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approach o malabsorption in children.pptx

Malabsorption syndromes encompass numerous clinical entities that result in chronic diarrhea, abdominal distention, and failure to thrive. [1] Clinical malabsorption can be broken down into several distinct conditions, both congenital and acquired, that affect one or more of the different steps in the intestinal hydrolysis and subsequent transport of nutrients.

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DISORDERS OF MALABSORPTION Presenter : Dr UDAY V
INTRODUCTION – OVERVIEW 1. Physiology of Digestion and Absorption 2. Approach to Malabsorption a. Etiology b. Approach to Malabsorption c. Tests for malabsorption 3. Malabsorption diseases a. Celiac Disease b. Abetalipoproteinemia c. Short bowel syndrome d. Bacterial overgrowth syndrome e. Tropical sprue f. Whipples disease g. Carbohydrate malabsorption h. Protein losing enteropathy
CARBOHYDRATE DIGESTION PROTEIN DIGESTION FAT DIGESTION MOUTH • Alpha amylase • Lingual lipase • R-binder protein STOMACH • Chief/ Peptic – Pepsinogen Triglycerides Phospholipids Cholesterol Cholesterol esters STOMACH • Salivary Amylase PANCREATIC Inactive proenzymes • Endopeptidases  Trypsinogen  Chymotrypsinogen  Proelastase • Exopeptidases  Procarboxypeptidase A  Procarboxypeptidase B LINGUAL Lipase- 10-30%- STOMACH Gastric Lipase- gastric chief cells PANCREATIC Lipase – Phospholipase A1/ A2 SMALL BOWEL • Pancreatic amylase • Lactase • Sucrase-isomaltase • Trehalase ENTEROCYTE • Microvilli of Duo/Jejunum • Aminopeptidases • Dipeptidases
Approach to malabsorption Clinical evaluation Features of Malabsorption & probable etiology Treatment of nutrient deficiencies and underlying cause Investigation Establish malabsorption, Identify Etiology
• MALABSORPTION – defective mucosal absorption • Charecterised by the triad of • Chronic diarrhea • Abdominal distension • Failure to thrive • MALDIGESTION – Defective luminal hydrolysis of nutrients
1. Disorders of intraluminal digestion 2. Disorders of transport in the intestinal mucosal cell 3. disorders of transport from mucosal cell 4. Systemic diseases associated with malabsorption 5. Drug causing malabsorption Classification and aetiology
Disorders of intraluminal digestion Pancreatic insufficiencies • Cystic fibrosis • Chronic pancreatitis • Carcinoma of pancreas Bile salt insufficiency • Obstructive jaundice • Bacterial overgrowth syndrome Rapid transit of food through gut • Gastroenterostomy • Partial gastrectomy Increased bile salt loss in faeces • Terminal ileal disease • Crohn’s disease • Terminal ileal resection Lack of intrinsic factor • Pernicious anaemia Disorders of transport in the intestinal mucosal cell Defect in brush border hydrolysis • Lactase deficiency Defect in epithelial transport • Celiac disease • Tropical sprue • Lymphoma Disorders of transport from mucosal cell Lymphatic obstruction • Abdominal lymphoma • Tuberculosis • Lymphadenitis ectasia Defect in epithelial processing • Abetalipoproteinemia Systemic diseases associated with malabsorption • Addison disease • Thyrotoxicosis • Hypothyroidism • Diabetes mellitus • Collagen vascular malabsorption Drugs causing wall absorption • Cochin and neomycin - precipitation of bile salts in gut, inhibition of lactase • Methotrexate- folic acid antagonist • Cholestyramine- binding bile salts • Laxatives
Diagnostic Approach : Steps Is the Diarrhea • Acute or Chronic ? • Functional or Organic? • Small bowel or Large bowel? • Volume and content of stool • Associated with malabsorption • Painful or Painless? • Associated with bleeding? • Inflammatory or Non-inflammatory? Increase in liquidity/fluidity/frequency of stool - >3 stools/day - Volume >200mL/day - Frequency is not the only criteria, instead type of stool is important.
Step 1 : Is the Diarrhea Acute or Chronic? TYPE DURATION Acute < 2 weeks Persistent 2-4 weeks Chronic >4 weeks
Step 2 : Is the Diarrhea Functional or Organic? Features Functional Organic Duration Long Short Constitutional symptoms Less marked Marked Weight loss No Yes Appetite Normal Decrease Nocturnal diarrhea No Yes Gastro-colic reflex Yes No Anxiety symptoms Yes No TODDLERS DIARRHEA- Functional diarrhea / Chronic nonspecific diarrhea of childhood in 1-5 years Not serious, child is well Recurrent episodes of frequent heterogenous, mucoid, foul smelling stools Normal physical growth Interspersed with periods of normal or hard stools
Step 3 : Is the Diarrhea Small bowel or Large bowel type? CLINICAL FEATURES SMALL BOWEL LARGE BOWEL Frequency Low to moderate < 4 High >4 Quantity Large Small Characteristics Watery, bulky, undigested Frothy/greasy Blood & mucus Pain abdomen May/may not preset Associated Tenesmus absent Present
Step 4 : Volume and contents OSMOTIC SECRETORY Volume of stools <200mL/24hours >200mL/24hours Purge Watery stools, explosive and lots of gas Watery non explosive and no gas Response to fasting Diarrhea stops Diarrhea continues Perianal redness Present Absent Pain Painless Painful Stool sodium <70 mEq/L >70 mEq/L Reducing substances Positive Negative Stool pH <5.5 >5.5 Osmotic gap >100 <50 Examples Laxatives- lactulose Lactase defeciency Cholera Harmone-producing tumors – VIPoma Gastrinoma
STOOL HISTORY ODOUR Fat malabsorption – putrefaction - Hydrogen sulphide VOLUME Normal – 10g/Kg Malabsorption – 1kg APPEARANCE Fat- Floating, meshy, oily or sticky, difficult to flush from the toilet Stool charecteristics Pasty & loose with cheesy odour Pancreatic malabsorption Loose with acidic smell Intestinal malabsorption Liquid acidic stools with flatus Fermentative diarrhoea Urine like or watery Chloride diarrhoea Mixed with blood /mucus Inflammatory bowel disease
Step 5 :Does the child have features of mucosal malabsorption? Carbohydrate malabsorption • Generalized weakness • Bloating • Flatulence • Abdominal discomfort Fat Malabsorption • Loss of body fat • Steatorrhea Protein Malabsorption • Loss of visceral and somatic protein • Edema Look for Features of Vitamin deficiency
Step 6 : Inflammatory OR Non-inflammatory? Non-inflammatory Tropical sprue Celiac disease Giardiasis Primary lymphangiectasia Abetalipoproteinemia Bacterial overgrowth Inflammatory Tuberculosis Crohn’s disease Ulcerative colitis IPSID Whipple’s disease Eosinophilic enteritis
Step 7 : Is the diarrhea associated with abdominal pain? Painless Tropical sprue Celiac disease Giardiasis Primary lymphangiectasia Painful Tuberculosis Crohn’s disease IPSID Whipple’s disease
Step 8 : Is the diarrhea associated with bleeding? No Blood Tropical sprue Celiac disease Giardiasis Immunodeficiency Primary lymphangiectasia Blood + Tuberculosis IBD
Stool HISTORY • Frequency, consistency, color, odour Family History • Consanguinity – AD-CF • Genetically determined conditions- CF/ PLD/ Abetalipoproteinemia Dietary History • Age at introduction of cow’s milk – CMPA • Cereals / types of cereals – Celiac disease • Fruits- Sucrase-isomaltase deficiency • Increased thirst and severe diarrhoea- Sugar intolerance • Appetite- Voracious- exocrine pancreatic insufficiency • Poor in celiac disease PERINATAL HISTORY • Onset from birth – CF/ Primary lactate deficiency
TESTS FOR FAT MALABSORPTION 72 HOURS STOOL FAT ESTIMATION Given high fat diet- 50g/day Statorrhoea - > 7% fat CLASSIC STEATOCRIT Stool + water > 2.1 % = Steatorrhoea > 10gm/day SUDAN 3 STAIN Qualitative orange globules > 100/HPF – severe steatorrhoea
TESTS FOR CARBOHYDRATE MALABSORPTION ORAL LACTOSE TEST Oral 50gram of Lactose < 20gm/dl increase in lactose concentration from baseline value at 30min – Abnormal REDUCING SUBSTANCES > 0.5% - abnormal Sucrose- non reducing STOOL PH Acidic < 5.5- carb malabsorption Nitrazine pH paper ORAL D-XYLOSE TEST After 8hours fast Oral 5gm of 10% D-Xylose Normal -Serum- 1hr- >30mg% Urine – 5hrs- 1gm
FECAL ALPHA-1 ANTITRYPSIN Excellent marker for Protein malabsorption Serum protein – not present in food N- 0.8mg/g Protein- losing enteropathy- > 2.6mg/g PERIPHERAL SMEAR Acanthocytes – Abetalipoproteinemia Lymphocytopenia - Lymphangiectasia Dimorphic anemia • MCHC – Celiac disease IMAGING Plain X-ray abdomen Barium meal Ultrasound CECT Abdomen BOWEL BIOPSY Histological changes of small bowel mucosa Enzymatic studies Metabolic, immunologic , microbiological studies
FEATURES MALABSORPTION MALDIGESTION Definition Defective mucosal absorption It is characterised by the triad 1. Chronic diarrhoea 2. Abdominal distension 3. Failure to thrive Defective luminal hydrolysis of nutrients Stool fat ++ +++ Stool volume ++++ ++ Fatty acid crystal +++ - Flatulence ++ - Anemia ++ - Hypoalbuminemia ++ - Examples Celiac disease CMPA Exocrine Pancreatic insufficiency Bacterial overgrowth- defective micelle formation
CELIAC DISEASE
DEFINITION : Celiac Disease Immune- mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals.
Epidemiology : Celiac Disease Prevalence – 1% World wide In which country? Rare in central Africa & East Asia Is it infectious? Frequent Rotavirus infections When to introduce Gluten ? Early gluten- Serology + When to introduce Gluten ? 4-12 months
Genetic Predisposition ? Celiac Disease Monozygotic twins concordance? 100% Which HLA? HLA DQ 2.5; HLA-DQ8; DQB1*02 genes What % of cases? DQ in 90% vs 40% general Is it common in relatives? 1st Degree? 7.5% 2nd Degree? 2.3%
Autoimmune Associations - Celiac Disease Type 1 diabetes 5% * Down syndrome 5-12% (6 times more prone) Turner syndrome 4-6% Williams syndrome Selective IgA deficiency First degree relatives of individuals with celiac disease Autoimmune thyroid disease, Addison disease, Sjogren syndrome, Rheumatoid arthritis, autoimmune cholangitis, autoimmune hepatitis, primary biliary cholangitis * Goodwin G. Type 1 Diabetes Mellitus and Celiac Disease: Distinct Autoimmune Disorders That Share Common Pathogenic Mechanisms. Horm Res Paediatr. 2019;92(5):285-292. doi: 10.1159/000503142. Epub 2019 Oct 8. PMID:
CLINICAL SPECTRUM SYMPTOMATIC Frank malabsorption symptoms and signs (e.g. chronic diarrhea, FTT, ) Extraintestinal symptoms & signs (e.g. anemia, fatigue, hypertransaminasemia, neurological disorders) SILENT / AYMPTOMATIC No apparent symptoms in spite of histologic evidence of villous atrophy Most cases identified by serologic screening – at risk groups LATENT Subjects who have a normal intestinal histology, but at some other time have shown a gluten-dependent enteropathy POTENTIAL Subjects with positive celiac disease serology but without evidence of altered intestinal histology. Patients may or may not have symptoms and signs of disease and may or may not develop a gluten-dependent enteropathy later. sympto ms serology biopsy + + + - + + +/- N N - + N
Gastrointestinal Manifestations (Classic) • Chronic or recurrent diarrhea • Abdominal distention • Anorexia • Failure to thrive or weight loss • Abdominal pain • Vomiting • Constipation • Irritability Most common age of presentation: 6-24 months Hypokalemia Hypoglycemia Sepsis Celiac crisis
Non-Gastrointestinal Manifestations (Non-Classic) • Dermatitis herpetiformis • Dental enamel hypoplasia of permanent teeth • Osteopenia/ osteoporosis • Short stature • Delayed puberty • Iron deficient anemia resistant to oral iron • Hepatitis • Arthritis • Epilepsy with occipital calcifications Most common age of presentation: older children to adult
Dermatological Manifestations • The risk for DH is increased by more than 100-fold among patients with celiac disease.  Dermatitis herpetiformis  Vitiligo  Alopecia areata  Psoriasis  Eczema  Urticaria  Acne
SUSPECTED CASE IgA & IgA tTG2 (tissue Transglutaminase) POSITIVE > 10 times Anti Endomysial antibody & HLA DQ2/ DQ8 Positive Gluten free diet < 10 times Duodenal biopsy (Marsh criteria) Marsh 0-1 Unclear cases Marsh 2 or 3 Celiac disease positive -> GFD NEGATIVE Not Celiac
ASYMPTOMATIC CASE- At Risk HLA DQ2/ DQ8 POSITIVE Ttg2 & IgA > 3 times Duodenal Biopsy < 3 times Anti Endomysial antibody Positive Duodenal Biopsy Negative Not Celiac NEGATIVE Not at Risk
TESTS Sensitivity Specificity Ig A- tTG 78% - 100% 90 – 100% Anti Endomysial Ab 86 – 100 % 97% - 100% Deaminated gliadin peptide DGP- IgA Less than 2 years Ig A deficiency Ig G tTG Less sensitive than Ig A type 1 in 40 Celiac disease . 1 in 400 General population Duodenal Biopsy About 2 – 3% patients with CD have HLA 95% - HLA DQ 2.5 5% - most HLA DQ8
C Consultation with a skilled dietitian E Education about the disease L Lifelong adherence to a gluten-free diet I Identification and treatment of nutritional deficiencies A Access to an advocacy group and health behaviour support C Continuous long-term follow-up by a multidisciplinary team TREATMENT : Celiac Disease
CELIAC DIET Use ONLY  Rice  Corn - ಜೋಳ  Maize - ಮೆಕ್ಕೆ ಜೋಳ  Buckwheat - ಹುರುಳಿ  Millet - ಸಿರಿಧಾನ್ಯ  Amaranth - ಹರಿವೆ ಸೋಪ್ಪು  Quinoa- ನವಣೆ ಅಕ್ಕಿ  Sorghum - ಬೇಳೆ  Soyabean -  Tapioca - ಮರಗೆಣಸಿನ  Bean  Nut flours
OBVIOUS SOURCES- To be AVOIDED  Bread  Cakes  Cereals  Cookies  Pasta  Noodles  Rolls
The CODEX Alimentarius Guidelines Gluten- free food item < 20ppm (equivalent to 20mg gluten in 1kg of product)
HIDDEN Gluten  Soups  Candy  Gravy and sauces  Herbal tea  Imitation meat and seafood  Salad dressings and marinades  Soya sauce
MONITORING RESPONSE 1. 70% within 2weeks – symptoms tTG reduced --- may take upto 2years 2. To do tTG – 3-6months then 6 monthly 3. Do check rise tTG - ? Taking gluten hidden gluten reassess diet 4. Annual check – Growth, nutrition, tTG, TSH, AST, ALT, Screen for micronutrient deficiency – Iron, Vitamin
DISORDERS OF CARBOHYDRATE DIGESTION LACTOSE INTOLERANCE INHERITED COMPLETE ABSENCE CHILDREN LOW ACTIVITY ADULTS ACQUIRED INTESTINAL DISEASES Sucrase- Isomaltase deficiency ABSORPTION Congenital glucose-galactose malabsorption
LACTOSE Osmotically active Diarrhea Fermented by intestinal bacteria Gases H2, CH4, CO2 etc Flatulance Lactic acid  pH
HYDROGEN BREATH TEST Increased H2 in the Breath ORAL LACTOSE TEST Oral 50gram of Lactose < 20gm/dl increase in lactose concentration from baseline value at 30min – Abnormal STOOL PH Acidic < 5.5- carb malabsorption Nitrazine pH paper AVOID Lactose containing diet Milk & milk products USE Yogurt/ curd Lactobacilli convert lactose to easily digestable lactic acid
• ABETALIPOPROTEINEMIA • Etiology The causative factor is mutations in the • Microsomal Triglyceride Transfer Protein Gene (MTTP) , • localized to chromosome 4q22-24.  Inherited metabolic disorder  With a heterogeneous clinical presentation  Estimated frequency of the disease is 1 in 10,00,000.  The name “abetalipoproteinemia” is derived from the typical lack of lipoproteins with beta-electrophoretic mobility on electrophoresis.  ApoB- 48 Chylomicrons , ApoB-100 VLDL  Bassen and kornzweig syndrome
• PATHOPHYSIOLOGY FAT SOLUBLE VITAMINS A, D, E, K
1st -2nd decade 1) Neurological Posterior column Neuropathy: • Loss of propioception • Romberg poisitive • Loss of Deep Tendon Reflexes** - First feature of ABL Pyramidal tracts: • Spastic gait Cerebellar Pathways: • Ataxia 2) Ocular: • Nyctalopia*** • Loss of colour vision*** First feature of ocular presentation in ABL 3) Rare Hepatic Steatosis Elevated Liver Treansaminases Cardiac Sudden cardiac death PRESENTATION History of consanguinity Infancy Gastrointestinal: (Pseudoceliac syndrome)- First feature of ABL • Fat malabsorption (Steatorrhoea, FTT) – almost all • Vomiting
HEMATOLOGICAL: • Full Blood count: Anaemia- First feature • Peripheral smear: Acanthocytosis – in almost all • ESR: low- Defective Rouleaux formation • Coagulation abnormalities BIOCHEMICAL: abnormal lipid profile – in almost all • Low levels of Apo-B, VLDL, CM, LDL and Cholesterol • Agarose electrophoresis: Absent beta-lipoprotein band ENDOSCOPIC EXAMINATION: • “gelee blanche” or “white hoar frosting” appearance • microscopy: lipid laden enterocytes The small bowel mucosa shows the characteristic clear enterocytes (due to lipid accumulation). Acanthocytosis in a patient with abetalipoproteinemia Agarose electrophoresis
Management guideline for patients with Abetalipoprot einemia Low fat diet: start with 5 grams/day, grade up as tolerated up to 20 grams/day MCT supplement: generally avoided EFA : vegetable oils Vitamin A: Dose: 100–400 IU/kg/day Route: oral Vitamin D: Dose: 800– 1200 IU/day Route: oral Vitamin E: Dose: 100-300 mg/kg/day Route: oral (intramuscular also available) Vitamin K: Dose: 5-35 mg per week Route: either oral or parenteral
SHORT BOWEL SYNDROME
SHORT BOWEL SYNDROME DEFINITION : Short-bowel syndrome is a disorder clinically defined by • Malabsorption • Diarrhea • Steatorrhea • Fluid and electrolyte disturbances • Malnutrition Due to functional or anatomical loss of extensive segments of small intestine so that absorptive capacity is severely compromised. Extensive segment – No defined length of remaining bowel is identified. Less than 200cm of viable small bowel or loss of 50% or more of the small intestine places the patient at risk for developing short bowel syndrome
CAUSES Surgical resection secondary to Necrotizing Enterocolitis 26% Gastroschisis 16% Congenital atresias 10% Volvulus 9% Intestinal aganglionosis 4% Others 18% 80% of the cases develop in neonatal period Incidence – 0.02 – 0.1% among all live births 0.5-2% - of all NICU admissions
Protein <3g/kg/day Lipids 25% of calories Carbohydrates 75% of calories Complications of parental Nutrition - IFLAD - Cirrhosis - Metabilic bone disorders - Renal dysfunction Complications from CVC Thrombosis Occlusion Dislocation Infection Sepsis STOMACH Hypergastrinemia Hyperacidity GER Vomiting Delayed gastric emptying GALL BLADDER Cholelithiasis LIVER IFALD Cirrhosis Cholestasis Fibrosis Steatosis PANCREAS Exocrine pancreatic insufficiency ILEAL RESECTION Malabsorption of Vitamin B12, Bile salts, fat soluble vitamins Malabsorption of carbohydrates, aminoacids and lipids Strictures Bacterial overgrowth Bowel dilatation and enteropathy Dysmotility of the small bowel Chronic diarrhea Renal Oxalate stones DUODENAL RESECTION Malabsorption of Iron, Calcium, B Vitamins COLONIC RESECTION Malabsorption of water & electrolytes Eosinophilic colitis Chronic diarrhea JEJUNAL RESECTION Dysmotility of the small bowel Bacterial overgrowth Bowel dilatation and enteropathy Dysmotility of the small bowel Chronic diarrhea
DIET Enteral nutrition should be started as soon as possible Small quantities of dilute formula – Q3H Mono and polysaccharides are better MCT – Better than LCTG DRUGS Antacids – prevent HCL induced injury (H2 blockers used for 1year postop) • Cholestyramine – Explosive watery diarrhea with loss of large quantity of bile • Antibiotics- BOGS SURGICAL Procedures to slow intestinal transit time Procedures to increase Mucosal surface area Small bowel Transplantation A
d- Lactic acidosis Colonic bacterial fermentation of malabsorbed carbohydrates d-Lactate absorbed into blood Excreted in urine normally Metabolic acidosis Neurological encephalopathy Nystagmus, opthalmoplegia, ataxia, confusion, inappropriate behaviour Sodium bicarbonate Antibiotics
BOGS REDUCED PERISTALSIS Autonomic Neuropathy Systemic sclerosis Diabetes STENOSIS Strictures Partial bowel obstruction Diverticula Intestinal Duplication COMMUNICATION Betweel SI & LI Fistula OTHERS PPI use Malabsorption Immunodefeciency PROXIMAL INTESTINAL BACTERIAL OVERGROWTH SYNDROME Small intestinal bacterial overgrowth syndrome (SIBO) is defined as • an increased number of non pathogenic bacteria • over 105 organisms in 1 millilitre of small intestine content
MANIFESTATIONS MECHANISM Diarrhoea, abdominal pain, and flatulence Weight loss, symptoms of iron deficiency anaemia, vitamin D deficiency, hypocalcaemia, and even osteoporosis Abdominal distension Bacteria actively participate in the fermentation process of disaccharides and lead to an excess of formed gases, which is associated with the feeling of distension and the presence of abdominal pain Steatorrhea Deconjugation of bile by intestinal bacteria D-xylose test – abnormal D- xylose is absorbed by the bacteria Schilling test – abnormal B12 absorbed by the bacteria Intestinal biopsy – normal Bacteria is non invasive
Lactulose Hydrogen Breath Test NORMAL Oral lactulose Not metabolized in small intestine (No enzymes) In Large intestine, bacteria ferments it to release Hydrogen Detected in breath BOGS Oral lactulose ‘Colonic bacteria shifted to small intestine’ Fermentation of lactulose Hydrogen will be detected Early and High
Gold standard Investigation – Jejunal aspirate culture  Normally – Sterile  BOGS- >10 5 CFU /ml of aspirate TREATMENT Recommendations for SIBO treatment include such antibiotics as: Rifaximin, Metronidazole, Amoxicillin with clavulanic acid, Clindamycin, Ciprofloxacin, and Trimethoprim with Sulfamethoxazole Cyclic regimen – 1-2weeks/month
DEFINITION  Malabsorption of two or more substances  In people in the tropics – West Indies, Cuba, Northern part of South America, Asian countries- India, Sri Lanka, Burma, Malaysia, Indonesia  Other known causes have been excluded  Tropical sprue is a malabsorption syndrome characterized by chronic diarrhea, weight loss, and malabsorption of nutrients.  It occurs in travelers to the tropical regions or the natives of the tropics. TROPICAL SPRUE
. EPIDEMIOLOGY The disease usually affects the indigenous population and travelers with a stay greater than 1 month in the endemic areas. It is rarely seen in visitors who stay for less than 2 weeks in these areas. The incidence is declining in India and Pakistan, likely secondary to improved hygiene and rampant use of antibiotics The disease is rarely seen in the African continent, China, and the Middle East. There have been only a few cases in the USA.
ETIOLOGY Bacterial Toxins Mycotoxin Corona virus Stem Cell damage of intestinal epithelial cells @the base of crypts Pan Small intestine (Distal > Proximal )
• Resident of an endemic area or have a history of travel, • Disease manifests a couple of years later after traveling to these areas • Watery and foul-smelling diarrhea. It is associated with bloating, crampy abdominal pain, and loud borborygmi • Steatorrhea • Signs and symptoms of anemia HISTORY • Glossitis, cheilitis, stomatitis, pedal edema, or protuberant abdomen • malnutrition, including anorexia, inability to concentrate, cold intolerance, fatigue and irritability, poor wound healing, and propensity for frequent infections. PHYSICAL EXAMINATION • CBC - Megaloblastic anemia and low vitamin B12 and folate levels • Stool testing should be done to rule out infection with Giardia, Entamoeba, Strongyloides, and Cryptosporidium. Serological testing should be done to exclude Celiac disease • Stool studies may show increased fat content. LAB INVESTIGATIONS
• Endoscopic evaluation will show changes in the duodenum and jejunum involving absent duodenal folds and the presence of scalloped folds and mucosal fissures. • Increased villous crypt depth, nuclear immaturity, enlarged epithelial cells, intraepithelial lymphocytic infiltrates, increased inflammatory cells in the lamina propria, and accumulation of lipid underneath the basement membrane. ENDOSCOPY • Combination therapy of Tetracycline 250 mg PO four times daily and oral folic acid 5 mg daily is given for 3 to 6 months. • In endemic areas and patients with a relapsing course, the treatment duration may be extended up to a year. • Severe dehydration, Electrolyte imbalance, and Symptomatic anemia –Needs hospitalisation TREATMENT • The prognosis of tropical sprue is usually good. • The response with treatment has been excellent in people who acquired it during travel to endemic regions, with rare or no recurrence. • The recurrence rate in residents of endemic regions is reported to be around 20%, with frequent relapses over the years. PROGNOSIS
ETIOLOGY Tropheryma whipplei gram-positive bacillus, periodic acid-Schiff- positive (PAS), and acid- fast negative EPIDEMIOLOGY Associated with the HLA B27 haplotype one to three in every one million people mean age of onset of symptoms is age 55 M:F = 4:1 PATHOPHYSIOLOGY It consists primarily of altered macrophage function and activation and an impaired type 1 T-cell response The organism is ingested by macrophages which can be observed PAS. The malabsorption seen is due to disruption of the normal villus function. CLINICAL FEATURES Gastrointestinal symptoms that resemble other malabsorption syndromes peripheral lymphadenopathy in about 50% of the cases. CVS- Pericarditis CNS – Nystagmus Oculomasticatory myoarrhythmias Eye- Uveitis Hyperpigmentation – light sensitive areas DIAGNOSIS PAS staining showing foamy macrophages i n a biopsy specimen of involved tissues PCR Detection of T. whippelii or detection of the specific 16S rRNA of the bacterium Immunohistochemic al staining with T. whippelii antibodies TREATMENT The usual duration for the initial phase is two weeks, followed by the maintenance phase with Trimethoprim 160 mg- Sulfamethoxazole 800 mg twice daily for twelve months
PROTEIN LOSING ENTEROPATHY DEFINITION Protein-losing enteropathy (PLE) is a condition in which excess loss of proteins occurs through the gastrointestinal tract due to different etiologies. It should be suspected in patients with low serum proteins and in whom other causes of hypoproteinemia have been ruled out. CAUSES 1. Primary erosive/ulcerative gastrointestinal disorders : inflammatory bowel diseases (both ulcerative colitis and crohn’s disease), gastrointestinal malignancies, any erosions or ulcers of stomach or duodenum, clostridium difficile colitis, carcinoid syndrome, graft vs. Host disease. 2. Non-erosive/non-ulcerative gastrointestinal disorders : topical sprue, celiac disease, menetrier’s disease, amyloidosis, cutaneous burns, eosinophilic gastroenteritis, bacterial overgrowth, intestinal parasitic infections, Whipple’s disease. 3. Disorders causing increased interstitial pressure or lymphatic obstruction Primary intestinal lymphangiectasia, right-sided heart failure, constrictive pericarditis, congenital heart disease, cirrhosis with portal hypertension gastropathy, hepatic venous outflow obstruction, and thoracic duct obstruction.
PATHOPHYSIOLOGY This condition occurs when the loss of proteins through the gastrointestinal tract exceeds the synthesis of proteins by the body, leading to hypoproteinemia. In conditions causing inflammation and erosions of the gastrointestinal tract, the mucosal permeability increases, leading to excessive leakage of serum proteins into the gut, and poor reabsorption. This state leads to hypoproteinemia. In diseases causing increased lymphatic pressure and lymphatic obstruction, there is an increased leak of lymph into the gastrointestinal tract and decreased absorption of chylomicrons, resulting in a deficiency of fat-soluble vitamins and protein loss. CLINICAL FEATURES Diarrhea, bloating, abdominal pain, etc Loss of immunoglobulins and lymphocytes - frequent infections Decreased oncotic pressure Peripheral edema (most common presenting symptom) Ascites and pleural effusions INVESTIGATION Low albumin and low globulins in their serum. Alpha 1 antitrypsin (a1at) intestinal clearance TREATMENT / MANAGEMENT Treating the underlying pathology is the mainstay of treatment. Diet rich in protein and medium chain triglycerides and low in fat is considered the best diet in this condition. Patients may require 2 to 3g/kg/day of protein. Replacement of micronutrients, electrolytes, and vitamin deficiencies should occur as appropriate. Octreotide has been considered beneficial in primary intestinal lymphangiectasia and menetrier disease by decreasing lymphatic pressure and reducing intestinal protein loss.
REFERENCES 1. A Riyaz , Textbook of Paediatric Gastroenterology & Hepatology, 4th Edition 2. Nelson Textbook of pediatrics, 21st Edition 3. Sonawane R. ABETALIPOPROTEINEMIA. Pediatr Oncall J. 2016;13: 1-8. doi: 10.7199/ped.oncall.2016.1 4. Siniewicz-Luzeńczyk K, Bik-Gawin A, Zeman K, Bąk-Romaniszyn L. Small intestinal bacterial overgrowth syndrome in children. Prz Gastroenterol. 2015;10(1):28-32. doi: 10.5114/pg.2014.47494. Epub 2015 Feb 6. PMID: 25960812; PMCID: PMC4411403. 5. Brar HS, Aloysius MM, Shah NJ. Tropical Sprue. [Updated 2023 Jan 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK567742 6. Nagra N, Dang S. Protein-Losing Enteropathy. [Updated 2023 Jun 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK542283/

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approach o malabsorption in children.pptx

  • 1.
  • 2.
    INTRODUCTION – OVERVIEW 1.Physiology of Digestion and Absorption 2. Approach to Malabsorption a. Etiology b. Approach to Malabsorption c. Tests for malabsorption 3. Malabsorption diseases a. Celiac Disease b. Abetalipoproteinemia c. Short bowel syndrome d. Bacterial overgrowth syndrome e. Tropical sprue f. Whipples disease g. Carbohydrate malabsorption h. Protein losing enteropathy
  • 3.
    CARBOHYDRATE DIGESTION PROTEINDIGESTION FAT DIGESTION MOUTH • Alpha amylase • Lingual lipase • R-binder protein STOMACH • Chief/ Peptic – Pepsinogen Triglycerides Phospholipids Cholesterol Cholesterol esters STOMACH • Salivary Amylase PANCREATIC Inactive proenzymes • Endopeptidases  Trypsinogen  Chymotrypsinogen  Proelastase • Exopeptidases  Procarboxypeptidase A  Procarboxypeptidase B LINGUAL Lipase- 10-30%- STOMACH Gastric Lipase- gastric chief cells PANCREATIC Lipase – Phospholipase A1/ A2 SMALL BOWEL • Pancreatic amylase • Lactase • Sucrase-isomaltase • Trehalase ENTEROCYTE • Microvilli of Duo/Jejunum • Aminopeptidases • Dipeptidases
  • 5.
    Approach to malabsorption Clinical evaluation Featuresof Malabsorption & probable etiology Treatment of nutrient deficiencies and underlying cause Investigation Establish malabsorption, Identify Etiology
  • 6.
    • MALABSORPTION –defective mucosal absorption • Charecterised by the triad of • Chronic diarrhea • Abdominal distension • Failure to thrive • MALDIGESTION – Defective luminal hydrolysis of nutrients
  • 7.
    1. Disorders ofintraluminal digestion 2. Disorders of transport in the intestinal mucosal cell 3. disorders of transport from mucosal cell 4. Systemic diseases associated with malabsorption 5. Drug causing malabsorption Classification and aetiology
  • 8.
    Disorders of intraluminaldigestion Pancreatic insufficiencies • Cystic fibrosis • Chronic pancreatitis • Carcinoma of pancreas Bile salt insufficiency • Obstructive jaundice • Bacterial overgrowth syndrome Rapid transit of food through gut • Gastroenterostomy • Partial gastrectomy Increased bile salt loss in faeces • Terminal ileal disease • Crohn’s disease • Terminal ileal resection Lack of intrinsic factor • Pernicious anaemia Disorders of transport in the intestinal mucosal cell Defect in brush border hydrolysis • Lactase deficiency Defect in epithelial transport • Celiac disease • Tropical sprue • Lymphoma Disorders of transport from mucosal cell Lymphatic obstruction • Abdominal lymphoma • Tuberculosis • Lymphadenitis ectasia Defect in epithelial processing • Abetalipoproteinemia Systemic diseases associated with malabsorption • Addison disease • Thyrotoxicosis • Hypothyroidism • Diabetes mellitus • Collagen vascular malabsorption Drugs causing wall absorption • Cochin and neomycin - precipitation of bile salts in gut, inhibition of lactase • Methotrexate- folic acid antagonist • Cholestyramine- binding bile salts • Laxatives
  • 9.
    Diagnostic Approach :Steps Is the Diarrhea • Acute or Chronic ? • Functional or Organic? • Small bowel or Large bowel? • Volume and content of stool • Associated with malabsorption • Painful or Painless? • Associated with bleeding? • Inflammatory or Non-inflammatory? Increase in liquidity/fluidity/frequency of stool - >3 stools/day - Volume >200mL/day - Frequency is not the only criteria, instead type of stool is important.
  • 10.
    Step 1 :Is the Diarrhea Acute or Chronic? TYPE DURATION Acute < 2 weeks Persistent 2-4 weeks Chronic >4 weeks
  • 11.
    Step 2 :Is the Diarrhea Functional or Organic? Features Functional Organic Duration Long Short Constitutional symptoms Less marked Marked Weight loss No Yes Appetite Normal Decrease Nocturnal diarrhea No Yes Gastro-colic reflex Yes No Anxiety symptoms Yes No TODDLERS DIARRHEA- Functional diarrhea / Chronic nonspecific diarrhea of childhood in 1-5 years Not serious, child is well Recurrent episodes of frequent heterogenous, mucoid, foul smelling stools Normal physical growth Interspersed with periods of normal or hard stools
  • 12.
    Step 3 :Is the Diarrhea Small bowel or Large bowel type? CLINICAL FEATURES SMALL BOWEL LARGE BOWEL Frequency Low to moderate < 4 High >4 Quantity Large Small Characteristics Watery, bulky, undigested Frothy/greasy Blood & mucus Pain abdomen May/may not preset Associated Tenesmus absent Present
  • 13.
    Step 4 :Volume and contents OSMOTIC SECRETORY Volume of stools <200mL/24hours >200mL/24hours Purge Watery stools, explosive and lots of gas Watery non explosive and no gas Response to fasting Diarrhea stops Diarrhea continues Perianal redness Present Absent Pain Painless Painful Stool sodium <70 mEq/L >70 mEq/L Reducing substances Positive Negative Stool pH <5.5 >5.5 Osmotic gap >100 <50 Examples Laxatives- lactulose Lactase defeciency Cholera Harmone-producing tumors – VIPoma Gastrinoma
  • 14.
    STOOL HISTORY ODOUR Fat malabsorption –putrefaction - Hydrogen sulphide VOLUME Normal – 10g/Kg Malabsorption – 1kg APPEARANCE Fat- Floating, meshy, oily or sticky, difficult to flush from the toilet Stool charecteristics Pasty & loose with cheesy odour Pancreatic malabsorption Loose with acidic smell Intestinal malabsorption Liquid acidic stools with flatus Fermentative diarrhoea Urine like or watery Chloride diarrhoea Mixed with blood /mucus Inflammatory bowel disease
  • 15.
    Step 5 :Doesthe child have features of mucosal malabsorption? Carbohydrate malabsorption • Generalized weakness • Bloating • Flatulence • Abdominal discomfort Fat Malabsorption • Loss of body fat • Steatorrhea Protein Malabsorption • Loss of visceral and somatic protein • Edema Look for Features of Vitamin deficiency
  • 16.
    Step 6 :Inflammatory OR Non-inflammatory? Non-inflammatory Tropical sprue Celiac disease Giardiasis Primary lymphangiectasia Abetalipoproteinemia Bacterial overgrowth Inflammatory Tuberculosis Crohn’s disease Ulcerative colitis IPSID Whipple’s disease Eosinophilic enteritis
  • 17.
    Step 7 :Is the diarrhea associated with abdominal pain? Painless Tropical sprue Celiac disease Giardiasis Primary lymphangiectasia Painful Tuberculosis Crohn’s disease IPSID Whipple’s disease
  • 18.
    Step 8 :Is the diarrhea associated with bleeding? No Blood Tropical sprue Celiac disease Giardiasis Immunodeficiency Primary lymphangiectasia Blood + Tuberculosis IBD
  • 19.
    Stool HISTORY • Frequency, consistency,color, odour Family History • Consanguinity – AD-CF • Genetically determined conditions- CF/ PLD/ Abetalipoproteinemia Dietary History • Age at introduction of cow’s milk – CMPA • Cereals / types of cereals – Celiac disease • Fruits- Sucrase-isomaltase deficiency • Increased thirst and severe diarrhoea- Sugar intolerance • Appetite- Voracious- exocrine pancreatic insufficiency • Poor in celiac disease PERINATAL HISTORY • Onset from birth – CF/ Primary lactate deficiency
  • 20.
    TESTS FOR FATMALABSORPTION 72 HOURS STOOL FAT ESTIMATION Given high fat diet- 50g/day Statorrhoea - > 7% fat CLASSIC STEATOCRIT Stool + water > 2.1 % = Steatorrhoea > 10gm/day SUDAN 3 STAIN Qualitative orange globules > 100/HPF – severe steatorrhoea
  • 21.
    TESTS FOR CARBOHYDRATEMALABSORPTION ORAL LACTOSE TEST Oral 50gram of Lactose < 20gm/dl increase in lactose concentration from baseline value at 30min – Abnormal REDUCING SUBSTANCES > 0.5% - abnormal Sucrose- non reducing STOOL PH Acidic < 5.5- carb malabsorption Nitrazine pH paper ORAL D-XYLOSE TEST After 8hours fast Oral 5gm of 10% D-Xylose Normal -Serum- 1hr- >30mg% Urine – 5hrs- 1gm
  • 22.
    FECAL ALPHA-1 ANTITRYPSIN Excellentmarker for Protein malabsorption Serum protein – not present in food N- 0.8mg/g Protein- losing enteropathy- > 2.6mg/g PERIPHERAL SMEAR Acanthocytes – Abetalipoproteinemia Lymphocytopenia - Lymphangiectasia Dimorphic anemia • MCHC – Celiac disease IMAGING Plain X-ray abdomen Barium meal Ultrasound CECT Abdomen BOWEL BIOPSY Histological changes of small bowel mucosa Enzymatic studies Metabolic, immunologic , microbiological studies
  • 23.
    FEATURES MALABSORPTION MALDIGESTION DefinitionDefective mucosal absorption It is characterised by the triad 1. Chronic diarrhoea 2. Abdominal distension 3. Failure to thrive Defective luminal hydrolysis of nutrients Stool fat ++ +++ Stool volume ++++ ++ Fatty acid crystal +++ - Flatulence ++ - Anemia ++ - Hypoalbuminemia ++ - Examples Celiac disease CMPA Exocrine Pancreatic insufficiency Bacterial overgrowth- defective micelle formation
  • 24.
  • 26.
    DEFINITION : CeliacDisease Immune- mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals.
  • 27.
    Epidemiology : CeliacDisease Prevalence – 1% World wide In which country? Rare in central Africa & East Asia Is it infectious? Frequent Rotavirus infections When to introduce Gluten ? Early gluten- Serology + When to introduce Gluten ? 4-12 months
  • 28.
    Genetic Predisposition ?Celiac Disease Monozygotic twins concordance? 100% Which HLA? HLA DQ 2.5; HLA-DQ8; DQB1*02 genes What % of cases? DQ in 90% vs 40% general Is it common in relatives? 1st Degree? 7.5% 2nd Degree? 2.3%
  • 29.
    Autoimmune Associations -Celiac Disease Type 1 diabetes 5% * Down syndrome 5-12% (6 times more prone) Turner syndrome 4-6% Williams syndrome Selective IgA deficiency First degree relatives of individuals with celiac disease Autoimmune thyroid disease, Addison disease, Sjogren syndrome, Rheumatoid arthritis, autoimmune cholangitis, autoimmune hepatitis, primary biliary cholangitis * Goodwin G. Type 1 Diabetes Mellitus and Celiac Disease: Distinct Autoimmune Disorders That Share Common Pathogenic Mechanisms. Horm Res Paediatr. 2019;92(5):285-292. doi: 10.1159/000503142. Epub 2019 Oct 8. PMID:
  • 31.
    CLINICAL SPECTRUM SYMPTOMATIC Frankmalabsorption symptoms and signs (e.g. chronic diarrhea, FTT, ) Extraintestinal symptoms & signs (e.g. anemia, fatigue, hypertransaminasemia, neurological disorders) SILENT / AYMPTOMATIC No apparent symptoms in spite of histologic evidence of villous atrophy Most cases identified by serologic screening – at risk groups LATENT Subjects who have a normal intestinal histology, but at some other time have shown a gluten-dependent enteropathy POTENTIAL Subjects with positive celiac disease serology but without evidence of altered intestinal histology. Patients may or may not have symptoms and signs of disease and may or may not develop a gluten-dependent enteropathy later. sympto ms serology biopsy + + + - + + +/- N N - + N
  • 32.
    Gastrointestinal Manifestations (Classic) •Chronic or recurrent diarrhea • Abdominal distention • Anorexia • Failure to thrive or weight loss • Abdominal pain • Vomiting • Constipation • Irritability Most common age of presentation: 6-24 months Hypokalemia Hypoglycemia Sepsis Celiac crisis
  • 33.
    Non-Gastrointestinal Manifestations (Non-Classic) •Dermatitis herpetiformis • Dental enamel hypoplasia of permanent teeth • Osteopenia/ osteoporosis • Short stature • Delayed puberty • Iron deficient anemia resistant to oral iron • Hepatitis • Arthritis • Epilepsy with occipital calcifications Most common age of presentation: older children to adult
  • 34.
    Dermatological Manifestations • Therisk for DH is increased by more than 100-fold among patients with celiac disease.  Dermatitis herpetiformis  Vitiligo  Alopecia areata  Psoriasis  Eczema  Urticaria  Acne
  • 35.
    SUSPECTED CASE IgA & IgAtTG2 (tissue Transglutaminase) POSITIVE > 10 times Anti Endomysial antibody & HLA DQ2/ DQ8 Positive Gluten free diet < 10 times Duodenal biopsy (Marsh criteria) Marsh 0-1 Unclear cases Marsh 2 or 3 Celiac disease positive -> GFD NEGATIVE Not Celiac
  • 36.
    ASYMPTOMATIC CASE- AtRisk HLA DQ2/ DQ8 POSITIVE Ttg2 & IgA > 3 times Duodenal Biopsy < 3 times Anti Endomysial antibody Positive Duodenal Biopsy Negative Not Celiac NEGATIVE Not at Risk
  • 38.
    TESTS Sensitivity Specificity IgA- tTG 78% - 100% 90 – 100% Anti Endomysial Ab 86 – 100 % 97% - 100% Deaminated gliadin peptide DGP- IgA Less than 2 years Ig A deficiency Ig G tTG Less sensitive than Ig A type 1 in 40 Celiac disease . 1 in 400 General population Duodenal Biopsy About 2 – 3% patients with CD have HLA 95% - HLA DQ 2.5 5% - most HLA DQ8
  • 39.
    C Consultation witha skilled dietitian E Education about the disease L Lifelong adherence to a gluten-free diet I Identification and treatment of nutritional deficiencies A Access to an advocacy group and health behaviour support C Continuous long-term follow-up by a multidisciplinary team TREATMENT : Celiac Disease
  • 40.
    CELIAC DIET Use ONLY Rice  Corn - ಜೋಳ  Maize - ಮೆಕ್ಕೆ ಜೋಳ  Buckwheat - ಹುರುಳಿ  Millet - ಸಿರಿಧಾನ್ಯ  Amaranth - ಹರಿವೆ ಸೋಪ್ಪು  Quinoa- ನವಣೆ ಅಕ್ಕಿ  Sorghum - ಬೇಳೆ  Soyabean -  Tapioca - ಮರಗೆಣಸಿನ  Bean  Nut flours
  • 41.
    OBVIOUS SOURCES- Tobe AVOIDED  Bread  Cakes  Cereals  Cookies  Pasta  Noodles  Rolls
  • 42.
    The CODEX AlimentariusGuidelines Gluten- free food item < 20ppm (equivalent to 20mg gluten in 1kg of product)
  • 43.
    HIDDEN Gluten  Soups Candy  Gravy and sauces  Herbal tea  Imitation meat and seafood  Salad dressings and marinades  Soya sauce
  • 44.
    MONITORING RESPONSE 1. 70%within 2weeks – symptoms tTG reduced --- may take upto 2years 2. To do tTG – 3-6months then 6 monthly 3. Do check rise tTG - ? Taking gluten hidden gluten reassess diet 4. Annual check – Growth, nutrition, tTG, TSH, AST, ALT, Screen for micronutrient deficiency – Iron, Vitamin
  • 45.
    DISORDERS OF CARBOHYDRATE DIGESTION LACTOSEINTOLERANCE INHERITED COMPLETE ABSENCE CHILDREN LOW ACTIVITY ADULTS ACQUIRED INTESTINAL DISEASES Sucrase- Isomaltase deficiency ABSORPTION Congenital glucose-galactose malabsorption
  • 46.
  • 47.
    HYDROGEN BREATH TEST Increased H2in the Breath ORAL LACTOSE TEST Oral 50gram of Lactose < 20gm/dl increase in lactose concentration from baseline value at 30min – Abnormal STOOL PH Acidic < 5.5- carb malabsorption Nitrazine pH paper AVOID Lactose containing diet Milk & milk products USE Yogurt/ curd Lactobacilli convert lactose to easily digestable lactic acid
  • 48.
    • ABETALIPOPROTEINEMIA • Etiology Thecausative factor is mutations in the • Microsomal Triglyceride Transfer Protein Gene (MTTP) , • localized to chromosome 4q22-24.  Inherited metabolic disorder  With a heterogeneous clinical presentation  Estimated frequency of the disease is 1 in 10,00,000.  The name “abetalipoproteinemia” is derived from the typical lack of lipoproteins with beta-electrophoretic mobility on electrophoresis.  ApoB- 48 Chylomicrons , ApoB-100 VLDL  Bassen and kornzweig syndrome
  • 49.
  • 50.
    1st -2nd decade1) Neurological Posterior column Neuropathy: • Loss of propioception • Romberg poisitive • Loss of Deep Tendon Reflexes** - First feature of ABL Pyramidal tracts: • Spastic gait Cerebellar Pathways: • Ataxia 2) Ocular: • Nyctalopia*** • Loss of colour vision*** First feature of ocular presentation in ABL 3) Rare Hepatic Steatosis Elevated Liver Treansaminases Cardiac Sudden cardiac death PRESENTATION History of consanguinity Infancy Gastrointestinal: (Pseudoceliac syndrome)- First feature of ABL • Fat malabsorption (Steatorrhoea, FTT) – almost all • Vomiting
  • 51.
    HEMATOLOGICAL: • FullBlood count: Anaemia- First feature • Peripheral smear: Acanthocytosis – in almost all • ESR: low- Defective Rouleaux formation • Coagulation abnormalities BIOCHEMICAL: abnormal lipid profile – in almost all • Low levels of Apo-B, VLDL, CM, LDL and Cholesterol • Agarose electrophoresis: Absent beta-lipoprotein band ENDOSCOPIC EXAMINATION: • “gelee blanche” or “white hoar frosting” appearance • microscopy: lipid laden enterocytes The small bowel mucosa shows the characteristic clear enterocytes (due to lipid accumulation). Acanthocytosis in a patient with abetalipoproteinemia Agarose electrophoresis
  • 52.
    Management guideline for patients with Abetalipoprot einemia Lowfat diet: start with 5 grams/day, grade up as tolerated up to 20 grams/day MCT supplement: generally avoided EFA : vegetable oils Vitamin A: Dose: 100–400 IU/kg/day Route: oral Vitamin D: Dose: 800– 1200 IU/day Route: oral Vitamin E: Dose: 100-300 mg/kg/day Route: oral (intramuscular also available) Vitamin K: Dose: 5-35 mg per week Route: either oral or parenteral
  • 53.
  • 54.
    SHORT BOWEL SYNDROME DEFINITION: Short-bowel syndrome is a disorder clinically defined by • Malabsorption • Diarrhea • Steatorrhea • Fluid and electrolyte disturbances • Malnutrition Due to functional or anatomical loss of extensive segments of small intestine so that absorptive capacity is severely compromised. Extensive segment – No defined length of remaining bowel is identified. Less than 200cm of viable small bowel or loss of 50% or more of the small intestine places the patient at risk for developing short bowel syndrome
  • 55.
    CAUSES Surgical resection secondary toNecrotizing Enterocolitis 26% Gastroschisis 16% Congenital atresias 10% Volvulus 9% Intestinal aganglionosis 4% Others 18% 80% of the cases develop in neonatal period Incidence – 0.02 – 0.1% among all live births 0.5-2% - of all NICU admissions
  • 56.
    Protein <3g/kg/day Lipids 25%of calories Carbohydrates 75% of calories Complications of parental Nutrition - IFLAD - Cirrhosis - Metabilic bone disorders - Renal dysfunction Complications from CVC Thrombosis Occlusion Dislocation Infection Sepsis STOMACH Hypergastrinemia Hyperacidity GER Vomiting Delayed gastric emptying GALL BLADDER Cholelithiasis LIVER IFALD Cirrhosis Cholestasis Fibrosis Steatosis PANCREAS Exocrine pancreatic insufficiency ILEAL RESECTION Malabsorption of Vitamin B12, Bile salts, fat soluble vitamins Malabsorption of carbohydrates, aminoacids and lipids Strictures Bacterial overgrowth Bowel dilatation and enteropathy Dysmotility of the small bowel Chronic diarrhea Renal Oxalate stones DUODENAL RESECTION Malabsorption of Iron, Calcium, B Vitamins COLONIC RESECTION Malabsorption of water & electrolytes Eosinophilic colitis Chronic diarrhea JEJUNAL RESECTION Dysmotility of the small bowel Bacterial overgrowth Bowel dilatation and enteropathy Dysmotility of the small bowel Chronic diarrhea
  • 57.
    DIET Enteral nutrition shouldbe started as soon as possible Small quantities of dilute formula – Q3H Mono and polysaccharides are better MCT – Better than LCTG DRUGS Antacids – prevent HCL induced injury (H2 blockers used for 1year postop) • Cholestyramine – Explosive watery diarrhea with loss of large quantity of bile • Antibiotics- BOGS SURGICAL Procedures to slow intestinal transit time Procedures to increase Mucosal surface area Small bowel Transplantation A
  • 58.
    d- Lactic acidosis Colonicbacterial fermentation of malabsorbed carbohydrates d-Lactate absorbed into blood Excreted in urine normally Metabolic acidosis Neurological encephalopathy Nystagmus, opthalmoplegia, ataxia, confusion, inappropriate behaviour Sodium bicarbonate Antibiotics
  • 59.
    BOGS REDUCED PERISTALSIS Autonomic Neuropathy Systemicsclerosis Diabetes STENOSIS Strictures Partial bowel obstruction Diverticula Intestinal Duplication COMMUNICATION Betweel SI & LI Fistula OTHERS PPI use Malabsorption Immunodefeciency PROXIMAL INTESTINAL BACTERIAL OVERGROWTH SYNDROME Small intestinal bacterial overgrowth syndrome (SIBO) is defined as • an increased number of non pathogenic bacteria • over 105 organisms in 1 millilitre of small intestine content
  • 60.
    MANIFESTATIONS MECHANISM Diarrhoea, abdominalpain, and flatulence Weight loss, symptoms of iron deficiency anaemia, vitamin D deficiency, hypocalcaemia, and even osteoporosis Abdominal distension Bacteria actively participate in the fermentation process of disaccharides and lead to an excess of formed gases, which is associated with the feeling of distension and the presence of abdominal pain Steatorrhea Deconjugation of bile by intestinal bacteria D-xylose test – abnormal D- xylose is absorbed by the bacteria Schilling test – abnormal B12 absorbed by the bacteria Intestinal biopsy – normal Bacteria is non invasive
  • 61.
    Lactulose Hydrogen BreathTest NORMAL Oral lactulose Not metabolized in small intestine (No enzymes) In Large intestine, bacteria ferments it to release Hydrogen Detected in breath BOGS Oral lactulose ‘Colonic bacteria shifted to small intestine’ Fermentation of lactulose Hydrogen will be detected Early and High
  • 62.
    Gold standard Investigation– Jejunal aspirate culture  Normally – Sterile  BOGS- >10 5 CFU /ml of aspirate TREATMENT Recommendations for SIBO treatment include such antibiotics as: Rifaximin, Metronidazole, Amoxicillin with clavulanic acid, Clindamycin, Ciprofloxacin, and Trimethoprim with Sulfamethoxazole Cyclic regimen – 1-2weeks/month
  • 63.
    DEFINITION  Malabsorption oftwo or more substances  In people in the tropics – West Indies, Cuba, Northern part of South America, Asian countries- India, Sri Lanka, Burma, Malaysia, Indonesia  Other known causes have been excluded  Tropical sprue is a malabsorption syndrome characterized by chronic diarrhea, weight loss, and malabsorption of nutrients.  It occurs in travelers to the tropical regions or the natives of the tropics. TROPICAL SPRUE
  • 64.
    . EPIDEMIOLOGY The disease usuallyaffects the indigenous population and travelers with a stay greater than 1 month in the endemic areas. It is rarely seen in visitors who stay for less than 2 weeks in these areas. The incidence is declining in India and Pakistan, likely secondary to improved hygiene and rampant use of antibiotics The disease is rarely seen in the African continent, China, and the Middle East. There have been only a few cases in the USA.
  • 65.
    ETIOLOGY Bacterial Toxins Mycotoxin Corona virus StemCell damage of intestinal epithelial cells @the base of crypts Pan Small intestine (Distal > Proximal )
  • 66.
    • Resident ofan endemic area or have a history of travel, • Disease manifests a couple of years later after traveling to these areas • Watery and foul-smelling diarrhea. It is associated with bloating, crampy abdominal pain, and loud borborygmi • Steatorrhea • Signs and symptoms of anemia HISTORY • Glossitis, cheilitis, stomatitis, pedal edema, or protuberant abdomen • malnutrition, including anorexia, inability to concentrate, cold intolerance, fatigue and irritability, poor wound healing, and propensity for frequent infections. PHYSICAL EXAMINATION • CBC - Megaloblastic anemia and low vitamin B12 and folate levels • Stool testing should be done to rule out infection with Giardia, Entamoeba, Strongyloides, and Cryptosporidium. Serological testing should be done to exclude Celiac disease • Stool studies may show increased fat content. LAB INVESTIGATIONS
  • 67.
    • Endoscopic evaluationwill show changes in the duodenum and jejunum involving absent duodenal folds and the presence of scalloped folds and mucosal fissures. • Increased villous crypt depth, nuclear immaturity, enlarged epithelial cells, intraepithelial lymphocytic infiltrates, increased inflammatory cells in the lamina propria, and accumulation of lipid underneath the basement membrane. ENDOSCOPY • Combination therapy of Tetracycline 250 mg PO four times daily and oral folic acid 5 mg daily is given for 3 to 6 months. • In endemic areas and patients with a relapsing course, the treatment duration may be extended up to a year. • Severe dehydration, Electrolyte imbalance, and Symptomatic anemia –Needs hospitalisation TREATMENT • The prognosis of tropical sprue is usually good. • The response with treatment has been excellent in people who acquired it during travel to endemic regions, with rare or no recurrence. • The recurrence rate in residents of endemic regions is reported to be around 20%, with frequent relapses over the years. PROGNOSIS
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    ETIOLOGY Tropheryma whipplei gram-positive bacillus, periodicacid-Schiff- positive (PAS), and acid- fast negative EPIDEMIOLOGY Associated with the HLA B27 haplotype one to three in every one million people mean age of onset of symptoms is age 55 M:F = 4:1 PATHOPHYSIOLOGY It consists primarily of altered macrophage function and activation and an impaired type 1 T-cell response The organism is ingested by macrophages which can be observed PAS. The malabsorption seen is due to disruption of the normal villus function. CLINICAL FEATURES Gastrointestinal symptoms that resemble other malabsorption syndromes peripheral lymphadenopathy in about 50% of the cases. CVS- Pericarditis CNS – Nystagmus Oculomasticatory myoarrhythmias Eye- Uveitis Hyperpigmentation – light sensitive areas DIAGNOSIS PAS staining showing foamy macrophages i n a biopsy specimen of involved tissues PCR Detection of T. whippelii or detection of the specific 16S rRNA of the bacterium Immunohistochemic al staining with T. whippelii antibodies TREATMENT The usual duration for the initial phase is two weeks, followed by the maintenance phase with Trimethoprim 160 mg- Sulfamethoxazole 800 mg twice daily for twelve months
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    PROTEIN LOSING ENTEROPATHY DEFINITIONProtein-losing enteropathy (PLE) is a condition in which excess loss of proteins occurs through the gastrointestinal tract due to different etiologies. It should be suspected in patients with low serum proteins and in whom other causes of hypoproteinemia have been ruled out. CAUSES 1. Primary erosive/ulcerative gastrointestinal disorders : inflammatory bowel diseases (both ulcerative colitis and crohn’s disease), gastrointestinal malignancies, any erosions or ulcers of stomach or duodenum, clostridium difficile colitis, carcinoid syndrome, graft vs. Host disease. 2. Non-erosive/non-ulcerative gastrointestinal disorders : topical sprue, celiac disease, menetrier’s disease, amyloidosis, cutaneous burns, eosinophilic gastroenteritis, bacterial overgrowth, intestinal parasitic infections, Whipple’s disease. 3. Disorders causing increased interstitial pressure or lymphatic obstruction Primary intestinal lymphangiectasia, right-sided heart failure, constrictive pericarditis, congenital heart disease, cirrhosis with portal hypertension gastropathy, hepatic venous outflow obstruction, and thoracic duct obstruction.
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    PATHOPHYSIOLOGY This conditionoccurs when the loss of proteins through the gastrointestinal tract exceeds the synthesis of proteins by the body, leading to hypoproteinemia. In conditions causing inflammation and erosions of the gastrointestinal tract, the mucosal permeability increases, leading to excessive leakage of serum proteins into the gut, and poor reabsorption. This state leads to hypoproteinemia. In diseases causing increased lymphatic pressure and lymphatic obstruction, there is an increased leak of lymph into the gastrointestinal tract and decreased absorption of chylomicrons, resulting in a deficiency of fat-soluble vitamins and protein loss. CLINICAL FEATURES Diarrhea, bloating, abdominal pain, etc Loss of immunoglobulins and lymphocytes - frequent infections Decreased oncotic pressure Peripheral edema (most common presenting symptom) Ascites and pleural effusions INVESTIGATION Low albumin and low globulins in their serum. Alpha 1 antitrypsin (a1at) intestinal clearance TREATMENT / MANAGEMENT Treating the underlying pathology is the mainstay of treatment. Diet rich in protein and medium chain triglycerides and low in fat is considered the best diet in this condition. Patients may require 2 to 3g/kg/day of protein. Replacement of micronutrients, electrolytes, and vitamin deficiencies should occur as appropriate. Octreotide has been considered beneficial in primary intestinal lymphangiectasia and menetrier disease by decreasing lymphatic pressure and reducing intestinal protein loss.
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    REFERENCES 1. A Riyaz, Textbook of Paediatric Gastroenterology & Hepatology, 4th Edition 2. Nelson Textbook of pediatrics, 21st Edition 3. Sonawane R. ABETALIPOPROTEINEMIA. Pediatr Oncall J. 2016;13: 1-8. doi: 10.7199/ped.oncall.2016.1 4. Siniewicz-Luzeńczyk K, Bik-Gawin A, Zeman K, Bąk-Romaniszyn L. Small intestinal bacterial overgrowth syndrome in children. Prz Gastroenterol. 2015;10(1):28-32. doi: 10.5114/pg.2014.47494. Epub 2015 Feb 6. PMID: 25960812; PMCID: PMC4411403. 5. Brar HS, Aloysius MM, Shah NJ. Tropical Sprue. [Updated 2023 Jan 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK567742 6. Nagra N, Dang S. Protein-Losing Enteropathy. [Updated 2023 Jun 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK542283/