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MALABSORPTION SYNDROMES IN PEDIATRICS POPULATION

The document discusses malabsorption in children, detailing its clinical entities, symptoms, and various underlying mechanisms affecting digestion and absorption. It highlights the different phases of nutrient processing, potential causes such as infections and diseases, and specific nutrient deficiencies, with an emphasis on conditions like celiac disease and tropical sprue. Additionally, it covers diagnostic methods, treatment options, and the significance of a gluten-free diet for managing malabsorption disorders.

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MALABSOPTION IN CHILDREN
๏‚ง Include numerous clinical entities that result in- 1) Chronic diarrhea 2) Abdominal distension 3) Failure to thrive
Maldigestion โ€ขDefective intraluminal hydrolysis of nutrients. โ€ขImpaired breakdown of nutrients. Carbohydrates Mono, di, oligosaccharides Proteins Amino acids , oligopeptides Fats Fatty acids , monoglycerides
Malabsorption : Defective mucosal uptake and transport of digested nutrients, vitamins, minerals. โ€ขMechanisms of malabsorption : โ€ข The integrated processes of digestion and absorption can be described in three phases: Luminal phase Mucosal phase Postabsorptive/Removal phase โ€ข Disturbances of absorptive process can take place in any of these three phases
โ€ข Luminal phase Dietary fats, proteins and carbohydrates are hydrolyzed and solubilized, largely by pancreatic and biliary secretions. Pancreatic insufficiencies Cystic fibrosis, Chronic pancreatitis Bile salt insufficiency Obstructive jaundice, bacterial overgrowth Rapid transit of food through gut Gastroenterostomy , partial gastrectomy Increased bile salt loss in faeces Crohns, ileal resection Lack of intrinsic factor Pernicious anemia Reduced gastric acid Atrophic gastritis
Mucosal phase: Final hydrolysis, uptake, processing and packaging โ€ข Epithelial transport defect Inflammation, Infections โ€ข Brush border defect Congenital/ Acquired disacharidase deficiency โ€ข Defect in epithelial transport Celiac disease Tropical sprue Lymphoma
Post- Absorptive/ Removal phase โ€ขDuring the removal phase, the absorbed nutrients enter the vascular or lymphatic circulation. Enterocyte processing affected โ€“ Abetalipoprotinemia Lymphatic obstructionโ€“ Intestinal lymphangectasia Abdominal lymphoma
When to suspect? โ€ข Progressive weight loss - Failure to thrive - Chronic diarrhea - Abdominal distension โ€ข Steatorrhea - Edema - Weakness, Malaise, Fatigue - Abdominal pain - Excessive flatus โ€ข Symptoms reflecting specific deficiences, such as bleeding tendency, muscle cramps, tetany, bone pains and parasthesias
CATEGORIZATION ASC WITH GENERALISED MUCOSAL DEFECT BASED ON PREDOMINANT NUTRIENT MALABSORBED
Malabsorption Disorders and Chronic Diarrhea Associated with Generalized Mucosal Defect Mucosal disorders Gluten-sensitive enteropathy (celiac disease) Cow's milk and other protein sensitive enteropathies Eosinophilic enteropathy Protein-losing enteropathy Lymphangiectasia (congenital and acquired) Disorders causing bowel mucosal inflammation, Crohn disease Congenital bowel mucosal defects Microvillous inclusion disease Tufting enteropathy Carbohydrate-deficient glycoprotein syndrome Enterocyte heparan sulfate deficiency Enteric an endocrinosis (NEUROG 3 mutation) Tricho-hepatic-enteric syndrome Immnunodeficiency disorders Congenital inmunodeficiency disorders Selective iminunoglobulin A deficiency (can be associated with Celiac disease) Severe combined immunodeficiency Agammaglobulinemia X-linked hypogammaglobulinemia Wiskott-Aldrich syndrome Common variable immunodeficiency disease Chronic granulomatous disease Acquired immune deficiency HIV infectionโ€‹ Immunosuppressive therapy and post-bone marrowโ€‹ transplantationโ€‹ Autoimmune enteropathyโ€‹ IPEX @mmune dysregulation, polyendocrinopathy, enteropathy.โ€‹ X-linked inheritance) IPEX-like syndromesโ€‹ Autoimmune polyglandular syndrome type 1โ€‹ Miscellaneousโ€‹ Immunoproliferative small intestinal chise aveโ€‹ Short bowel syndromeโ€‹ Blind loop syndromeโ€‹ Radiation enteritisโ€‹ Protein-calorie malnutritionโ€‹ Crohn diseaseโ€‹ Pseudoobstructionโ€‹
Malabsorptive Disorders With Generalized Mucosal Defects โ€ข Mucosal Disorders Celiac disease โ€“ gluten sensitive enteropathy Cow's milk and other protein- sensitive enteropathies Eosinophilic enteropathy โ€ข Protein losing enteropathy Lymphangiectasia ( congenital and acquired) Bowel mucosal inflammation Microvillous inclusion disease Immunodeficiency disorders Autoimmune enteropathy- IPEX Short bowel syndrome Blind loop syndrome Radiation enteritis Protein energy malnutrition
Specific Nutrient Malabsorptive Disorder โ€ข CARBOHYDRATE MALABSORPTION Lactose malabsorption Congenital lactase deficiency Congenital sucrase - isomaltase deficiency Glucose galactose malabsorption โ€ข FAT MALABSORPTION 2 Exocrine pancreatic insufficiency Bile acid synthetic defects Bile acid malabsorption ( terminal ileal disease) Cholestatic liver disease Chronic pancreatitis Abetalipoproteinemia Lymphangiectasia Cystic fibrosis Lipase/ colipase deficiency Protein- calories malnutrition
PROTEIN/ฮ‘ฮœฮ™ฮฮŸ ACID MALABSORPTION โ€ข Enterokinase deficiency โ€ข Hartnup disease (defect in free neutral amino acids) โ€ข Blue diaper syndrome (isolated tryptophan malabsorption) โ€ข Lowe syndrome (lysine and arginine malabsorption) MINERAL AND VITAMIN MALABSORPTION โ€ข Acrodermatitis enteropathica โ€ข Vitamin B12 malabsorption โ€ข Autoimmune pernicious anemia โ€ข Congenital chloride diarrhea โ€ข Congenital sodium absorption defect โ€ข Folate malabsorption โ€ข Vitamin D dependent rickets
DRUG INDUCED โ€ข Sulfasalazine: folic acid malabsorption โ€ข Cholestyramine: calcium and fat malabsorption โ€ข Anticonvulsant drugs such as phenytoin (causing vitamin D deficiency and folic acid and calcium malabsorption) โ€ข Gastric acid suppression: vitamin B12 โ€ข Methotrexate: mucosal injury โ€ข Laxatives Endocrine and metabolic disorders โ€ข Hyperthyroidism โ€ข Adrenal insufficiency โ€ข Diabetes mellitus โ€ข Hypoparathyroidism โ€ข Carcinoid syndrome
INDIAN SCENARIO ? โ€ขInfections: Giardiasis, Strongyloidiasis, Tuberculosis โ€ขCeliac sprue (Gluten sensitivity) โ€ขLactose intolerance โ€ขTropical sprue โ€ขChronic pancreatitis โ€ขLymphoma, Immunoproliferative small intestinal disease (IPSID)
CELIAC DISEASE (GLUTEN SENS ENTEROPATHY, CELIAC SPRUE, GEE'S Ds) โ€ข Immune-mediated systemic disorder elicited by GLUTEN and related PROLAMINES in genetically susceptible individuals โ€ข Characterised by: onset 9-18 months, F3: M1 โ€ข Malabsorption โ€ข Histological abnormalities of small bowel mucosa โ€ข Improvement in gluten free diet (clinical + histological) โ€ข Relapse on gluten โ€ข Strong associated with HLA-DQ2, DQ8 haplotype
Pathogenesis TRIGGERS โ€ข WHEAT GLUTEN โ†’ โ€ข RYE SECALIN โ€ข BARLEY HORDEIN GLIADINS โ€ข Single polypeptides-30-75k mw โ€ข Glutamine n proline rich โ€ข Alfa, Beta, Gamma, Omega subtypes. RICE, CORN, OATS - SAFE GLADINS GLUTENIN S GLOBULIN S ALBUMINS
โ€ข Inflammatory process-T cell mediated disruption of structure / function of mucosal lining malabsorption โ†’ โ€ขIL-15 activation by gluten peptides, triggers killing of enterocytes by lymphocytes โ€ข Blunting of villi โ€ขCrypt hypertrophy โ€ขLymphocytic infiltration
Clinical Spectrum of Celiac Disease SYMPTOMATIC โ€ข Frank malabsorption symptoms: chronic diarrhea, failure to thrive, weight loss โ€ข Extraintestinal manifestations: anemia, fatigue, hypertransaminasemia, neurologic disorders, short stature, dental enamel defects, arthralgia, aphthous stomatitis SILENT โ€ข No apparent symptoms in spite of histologic evidence of villous atrophy โ€ข In most cases identified by serologic screening in at-risk groups LATENT โ€ข Subjects who have a normal histology, but at some other time, before or after, have shown a gluten-dependent enteropathy POTENTIAL โ€ข Subjects with positive celiac disease serology but without evidence of altered jejunal histology โ€ข It might or might not be symptomatic
Peripheral edema Clubbing Smooth tongue Long eye lashes Delayed dentition
DIAGNOSIS โ€ข Gold std - ESPGHAN CRITERIA (European society of pediatric gastroent, hepatology and nutrition) โœ“ Flat mucosa of GIT โœ“ Unequivocal clinical response to gluten free diet Histological evaluation based on MARSH CRITERIA Marsh grade Histological features 0 Normal mucosa 1 Increased number of intra-epithelial lymphocytes, usually exceeding 20 per 100 enterocytes 2 Proliferation of the crypts of liberkuhn 3 Variable villous atrophy 3ะฐ Partial villous atrophy 3b Subtotal villous atrophy 3c Total villous atrophy
SEROLOGY โ€ข IgA ab to Tissue TRANSGLUTAMINASE (tTG): Sn, Sp 90-100%, ELISA, ideal โ€ข IgA ANTIENDOMYSIAL ANTIBODY - expensive D/D-Villous changes in developing country cow milk protein intolerance, tropical sprue, sev PEM, persistent GI infection So always confirm by SEROLOGY +BIOPSY ENDOSCOPY Scalloping of small bowel loops Cracked mud appearance of
COMPLICATIONS โ€ข Celiac crisis - severe dehydration, acidosis, shock โ€ข Malignancy - lymphoma, adenocarcinoma โ€ข Refractory sprue โ€ข Ulceration / stricture
TREATMENT โ€ข Lifelong strict adherence to GLUTEN FREE DIET (GFD) โ€ข CODEX Alimentarius guidelines suggests - <20ppm โ€ข Refractory - AZATHIOPRINE โ€ข Family role - special recipes from locally available brown rice, corn, dal, millets, ragi, soy flour, milk products meat products, fruits, vegetables, pulses. โ€ข Sensitize parents for growth charts, monitoring.
TROPICAL SPRUE โ€ข Chronic systemic infection acquired in endemic tropical areas with abnormal small bowel structure / function. โ€ข West indies, Cuba, India , Sri Lanka etc โ€ข Aetiology : persistent infection of small bowel by Klebsiella pneumoniae E coli Enterobacter cloacae โ€ข Starts as an acute episode of diarrhea โ†’ takes longer to subside โ†’ excess flatus, abdominal cramps followed by anorexia, weakness, FTT
โ€ข BLOOD: LOW levels of B12, A, E, D, K, folate, calcium โ€ขD-XYLOSE test is positive โ€ข Stearorrhea in 90% H2 breath test - POSITIVE (d/t bacterial overgrowth) โ€ข Barium meal - thickened small bowel โ€ข Biopsy - thick basement membrane, triglyceride accumulation near to surface epithelium [celiac - lipid droplets in enterocyte] โ€ข Injury to entire small bowel (not proximal as in celiac sprue) โ€ข No changes with GLUTEN FREE DIET TREATMENT โ€ข TETRACYCLINE/CO-TRIMOXAZOLE for 3-6months โ€ข Deficiency correction-B12, folic acid
D-XYLOSE TEST โ€ข Pentose sugar, passive diffusion in jejunum. โ€ข Not metabolized in body โ€ข Depends on mucosal integrity, absence of diarrhea โ€ข Independent of bile salts, pancreatic enzyme, disaccharidases โ€ข 8hr fast give 5g D-Xylose measure serum levels @ 1hr โ†’ โ†’ urine levels @ 5 hr Useful In: Celiac disease Tropical sprue Whipple's disease Crohns disease
โ€ข Fate of d-xylose in the body d-xylose consumed 50% absorbed in gut measure fraction of ingested dose excreted (>22%) measure blood level (>20 mg/dL) 25% excreted via kidney 25% released into general circulation 25% hepatic metabolism 50% excreted <20mg/dl in blood < 16% excretion in urine In abnormal intestinal absorptio n
SHORT BOWEL SYNDROME โ€ข Loss of >50% of the small bowel, with or without a portion of large intestine โ€ข At birth-200-250 cm โ€ข Adult-300-800cm โ€ข Generalised / specific nutrient malabsorption depending on bowel region Duodenum and Proximal jejunum Calcium Magnesium Phosphorus Iron Folic acid Throughout the small intestine Monoglycerides and fatty acids as miceller complexes Medium chain triglycerides directly into portal circulation Proximal 100-200 cm of small intestine Carbohydrates Protein Water- soluble vitamins Distal lleum Vitamin B12 Bile acids Colon Water Electrolytes
Causes of Short Bowel Syndrome CONGENITAL โ€ข Congenital short bowel syndrome โ€ข Multiple atresias โ€ข Gastroschisis BOWEL RESECTION โ€ข Necrotizing enterocolitis โ€ข Volvulus with or without malrotation โ€ข Long segment Hirschsprung disease โ€ข Meconium peritonitis โ€ข Crohn disease โ€ข Trauma
INTESTINAL ADAPTATION โ€ข Hormonal : increased gastrin, enteroglucagon โ€ข Nutrients: essential fatty acids, glutamine stimulate mucosal โ†’ hyperplasia โ€ข Growth factors: transforming growth factors (TGF) regulates proliferation and turnover
TREATMENT โ€ข Initial focus on fluid replenishment and correct electrolytes โ€ข After stabilization - BOWEL REHABILITATION โ€ข Continuous small volume enteral feeds, hydrolysed protein + mct oil For gut stimulation and mucosal growth, inc pancreaticobiliary flow โ€ข Concurrent parenteral support till max absorption is reached โ€ข Start ASAP to avoid oral aversion โ€ข 50% achieve enteral autonomy within 5yrs โ€ข H2 blockers till 1 year โ€ข Cholestyramine for explosive diarrhea + bile loss โ€ข Antibiotics to control bacterial overgrowth
Surgical Treatment โ€ข To slow intestinal transit, to increase mucosal surface area โ€ข Small bowel transplant Complications โ€ข Cather related (long term), thrombosis, cirrhosis โ€ข Sepsis โ€ข Vit deficiency โ€ข Steatorrhea hyperoxaluria renal stones โ†’ โ†’
BLIND LOOP SYNDROME โ€ข When the normal bacterial flora of the Small intestine proliferates abnormally to cause significant derangement to the normal physiological processes of digestion and absorption. โ€ข Mechanism to prevent overgrowth is lost (acidic ph, stagnation, obstruction, anamolies) โ€ข Achlorhydria, dysmotility, fistulae, and strictures, Chronic or high dose opioid therapy โ€ข Loss of appetite โ€ข Nausea โ€ข Flatulence โ€ข Diarrhea โ€ข Fullness after a meal โ€ข Fatty stools (steatorrhea) โ€ข Unintentional weight loss โ€ข Generalised weakness
โ€ข Vitamin B12 deficiency โ€ข Folate deficiency โ€ข Iron deficiency โ€ข Vitamin E deficiency TREATMENT Tetracyclin, Rifaximin, metronidazole Surgical management
INFLAMMATORY BOWEL DISEASE โ€ข CROHNS > ULCERATIVE COLITIS, small BOWEL is predominantly involved. โ€ข Significant weight loss, growth failure, malabsorption 85% in crohns โ†’ patients โ€ข Excessive levels of proinflammatory cytokines are implicated in causing anorexia โ€ขmultiple nutritional deficiencies + negative nitrogen balance โ€ข Optimizing nutritional status and growth are key priorities โ€ข Osteopenia / osteoporosis, low vit D, Bile acid malabsorption โ€ข Oral > enteral feeding (max weight gain)> parenteral
PROTEIN LOSING ENTEROPATHY โ€ข Loss of proteins into GI TRACT 1) INFLAMED MUCOSA/ULCERATION- infection, IBD, Celiac, tropical sprue 2) LYPHATIC OBSTRUCTION-1, 2 intestinal lymphangiectasia, CHF, Pericarditis 3) EPITHELIAL CELL DYSFUNCTION Congenital disorders of glycosylation, Enterocyte heparin sulfate deficiency LYPHATIC OBSTRUCTION โ†’ Increase Lymphatic pressure, stasis โ†’ lymph loss into GI tract including lymphocytes (lymphopenia), Ig, protein, lipids
INTESTINAL LYMPHANGECTASIA โ€ข Protein losing gastroenteropathy d/t dilatation of intestinal lymphatics n loss of lymphatic fluid into GI tract. โ€ข Hypoproteinemia, edema, immunological anomalies โ€ข Associated with Turner, Noonan syndrome โ€ข Manifest with ascites, peripheral edema and a low serum albumin. โ€ข Fecal alfa 1 antitrysin raised โ€ข Video capsule endoscopy โ€ข TREATMENT-restrict long chain fats, give protein and Medium chain triglycerides (MCTs) supplements MCT - no need of micelle formation, direct lymphatic absorption
WHIPPLE'S DISEASE Chronic systemic infection - TROPHERYMA WHIPPLEI โ€ข Diarrhea, โ€ข Abdominal pain, weight loss and joint pains, Malabsorption, steatorrhea โ€ข Lymphadenopathy + โ€ข Skin hyperpigmentation, and neurologic changes. โ€ข Doudenal biopsy - PAS-positive foamy macrophage inclusions โ€ข TREATMENT - IV CEFTRIAXONE/MEROPENAM - 14 days and - COTRIMOXAZOLE โ€“ 1 year
IMMUNODEFICIENCY DISORDERS โ€ข Selective Iga Deficiency โ€ข Agammaglobulinemia, โ€ข Wiskott-aldrich Syndrome โ€ข Common Variable Immunodeficiency Disease (CVID) โ€ข Severe Combined Immunodeficiency(SCID) โ€ข Chronic Granulomatous Disease Are complicated by Chronic Rotavirus Giardiasis Bacterial Overgrowth, Protein-losing Enteropathy Villous Atropy Secondary Disaccharidase Deficiency โ€ข HIV: Opportunistic infections by Cryptosporidium parvum, cytomegalovirus, Mycobacterium avium-intracellulare, Isospora belli โ€ข Cancer chemotherapy: damage the bowel mucosa, leading to secondary malabsorption of disaccharides such as lactose.
MICROVILLOUS INCLUSION DISEASE โ€ข AR โ€ข AT BIRTH - profuse watery secretory diarrhea โ€ข h/o polyhydramnios โ€ข Persistent diarrhea difficult fluid management fatal โ†’ โ€ข Microscopy - diffuse thinning of mucosa with hypoplastic villi โ€ข Electron microscopy - Apical cytoplasm contains electron dense secretory granules. โ€ข Octreotide, steroid can be tried
CARBOHYDRATE MALABSORPTION Enzyme: a amylase (Ptyalin) - Parotid Glands Action: Acts on starches to form maltose and glucose 3-9 polymers. Enzyme: a amylase (Ptyalin) - Parotid Glands Action: Digestion continues in the stomach for up to 1 hour. 30-40% starches converted to maltose and glucose polymers. Enzyme: a amylase (Pancreatic) Action: 50-80% starches converted to maltose and glucose polymers before passing beyond duodenum or upper jejunum. Enzyme: Lactase, Sucrase, Maltase and alfa dextrinase (Enterocytes lining the Villi) Action: Lactose (Lactase) Galactose + Glucose โ†’ Sucrose (Sucrase) Fructose + Glucose Maltose (Maltase) Glucose + Glucose โ†’ 3-9 Glucose polymers (a dextrinase) Glucose. โ†’
SYMPTOMS โ€ข Undigested disaccharides osmotic load attracts water โ†’ โ†’ โ†’ โ€ข Unabsorbed carbohydrates in large bowel bacterial fermentation โ†’ โ†’ H2, CO2, Methane Organic acids โ€ข EXCESSIVE FLATUS โ€ข BLOATING โ€ข DISTENSION PAIN LOOSE WATERY DIARRHEA ACIDIC pH OF STOOLS
DISSACHARIDES? โ€ข Enzymes in mature brush border epithelial cells converts di monosaccharides โ†’
LACTASE DEFICIENCY โ€ข Congenital lactase deficiency: very rare, <50 cases, LCT gene mutation โ€ข Primary adult type - lactate: โ€ข Physiologic decline in lactase activity that occurs following weaning in most mammals โ€ข Peak lactase activity from term to 3 yr, after which levels gradually decrease with age and has ETHNIC variability โ€ข Blacks > Asian > whites
โ€ข Secondary lactase deficiency โ€ข Seen in healthy individuals during episodes of acute illness โ€ข In acute GE, coeliac disease, Crohn's disease, ulcerative colitis chemotherapy, intestinal parasites โ€ข TEMPORARY
LACTOSE INTOLERANCE V/S MILK ALLERGY LACTOSE INTOLERANCE MILK ALLERGY A sensitivity An allergy Occurs in GI system Triggered by immune system A sensitivity to milk carbohydrates (lactose) A reaction to milk protein Rare in young children Generally impacts young children; may be outgrown lactose-free milk NO SYMPTOMS โ†’ SYMPTOMS +
TREATMENT โ€ข To limit the intake of lactose to a level that can be tolerated โ€ข Usually able to consume at least 12 grams of lactose per sitting โ€ข DAIRY that can be taken: Butter, Yogurt, Cheese โ€ข Substitutes: soy milk, almond milk, coconut milk โ€ข Commercially available: lactase enzyme, แบž-galactosidase
FRUCTOSE MALABSORPTION โ€ข Large quantity of juice rich in fructose, corn syrup, or natural fructose in fruit juices โ€ข Reduced levels GLUT-5 transporter on the surface of the intestinal brush- border membrane โ€ข Different from Hereditary fructose intolerance IEM, ALDOLASE B โ†’ deficiency, hypogycemia, convulsion, jaundice, hepatomegaly โ€ข TREATMENT - restriction, Xylose isomerase (fructose glucose) โ†’
TESTS FOR CARBOHYDRATES MALABSORPTION HYDROGEN BREATH TEST Simple, non-invasive, and is performed after a short period of fasting (12hrs) Principle: โ€ข malabsorbed sugar passes into colon โ€ข bacteria produce hydrogen gas โ€ขHโ‚‚ diffuses into blood and is excreted by lungs โ€ข Baseline reading lactose 25g take readings every 15, 30 or 60 minutes for โ†’ โ†’ two to three hours โ€ข If the level of hydrogen rises above 20 ppm lactose malabsorber โ†’ โ€ข Also used for fructose / sucrose malabsorption, small intestinal bacterial overgrowth โ€ข Drawback- 18% of people are hydrogen nonexcretors
FAT MALABSORPTION โ€ข Lipids - 90% triglycerides Problems associated with fat absorption โ€ข Not water soluble โ€ข Do not mix with intestinal contents โ€ข Form fat droplets LIPASE LINGUAL GASTRIC PANCREATIC
โ€ข MOST fat digestion occurs in DOUDENUM โ€ข BILE SALTS EMULSIFY fat droplets increase surface area for lipase โ†’ to act โ€ข Bile salts: synthesized from CHOLESTROL, secreted by liver, stored in GB, Secreted into duodenum
T
ABSORPTION OF VITAMINS VITAMINS A D E K
MECHANISMS OF FAT MALABSORPTION โ€ข Pancreatic insufficiency โ€ข Bile acid deficiency โ€ข Small intestinal bacterial overgrowth โ€ข Loss of absorptive surface area โ€ข Defective enterocyte function โ€ข Lymphatic disorders
CHRONIC PANCREATITIS โ€ข Pancreatic exocrine insufficiency โ€ข Destruction of acini n ducts by own proteolytic enzymes โ€ข Obstructive, Calcific type โ€ข Reduced secretion of digestive enzymes (LIPASES), bicarbonate โ€ข Malabsorption of fat due to loss/inactivation of pancreatic enzymes Leads to weight loss โ€ข Bulky, oily stool - STEATORRHEA โ€ข Fat soluble vitamin deficiency may occur in long-standing cases โ€ข Edema/hypoproteinemia โ€ข Due to malnutrition with decreased hepatic synthesis of albumin/serum proteins
Overview of Exocrine Pancreatic Insufficiency Symptoms MALABSORPTION OF LIPID SOLUBLE VITAMINS EXOCRINE PANCREATIC INSUFFICIENCY DEFICIENCY OF VIT B12 EXACERBATE MOTILITY DISORDERS OEDEMA WEIGHT LOSS ABDOMINAL DISTENSION STEATORRHEA DIARRHEA
INVESTIGATIONS in acute pancreatitis - โ€ข LIPASE > 130U โ€ข Hyperglycemia, hyperbilirubinemia, hypertriglyceridemia, hypocalcemia Bile salt deficiency: terminal ileum resection loss of bile salts in stool insufficient bile salts production Bacterial overgrowth: Deconjugation and loss of bile acids Gastric hypersecretion: Acid inactivation of pancreatic enzymes
ABDOMINAL XRAY: USG: atrophic, calcified or fibrotic (advanced stages)
CT CONTRAST: โ€ข dilatation of the main pancreatic duct, calcification, pseudocysts
ERCP
CYSTIC FIBROSIS โ€ข Multisystem disease, AR, most common lethal genetic disease in Caucasians โ€ข Cystic fibrosis transmembrane conductance regulator (CFTR) - chromosome 7 โ€ข Most common F508 deletion- genotype โ€ข Abnormality in CFTR blocks chloride transport, with inadequate hydration results in thick secretion of exocrine glands. Pancreatic insufficiency Pancreatic enzymes stay in ducts and are activated intraductally Autolysis of pancreas Inflammation, calcification, plugging of ducts, fibrosis Intestinal abnormality Meconium ileus (15% newborns with CF) Distal intestinal obstruction syndrome (DIOS) Rectal prolapse Recurrent Pancreatitis Shrunken, cystic pancreas
MALABSORPTION FAILURE TO THRIVE FAT SOLUBLE VITAMIN deficiency HYPOPROTEINEMIC EDEMA INCREASE LIVER ENZYMES BILIARY CIRRHOSIS PORTAL HYPERTENSION GIANT CELL HEPATITIS CHOLELITHIASIS BILE DUCT OBSTRUCTION ASSOCIATED LIVER DISEASE SPECTRUM (30%) MAINLY BILE DUCT ORIGIN
INVESTIGATIONS โ€ข SWEAT CHLORIDE TEST โ€ข ANC USG: Hyperechoic meconium, dilated small bowels, GB can't be seen properly TREATMENT โ€ข Proactive treatment of airway infection โ€ข Pulmonary rehab โ€ข10% N-Acetylcysteine enema โ€ข Liver transplantation โ€ข Cholecystectectomy
72-hour Fecal Fat Test Fat Absorption Fat input = 100 g/day Malabsorbed fat: Normal< 7 g/day
โ€ข Qualitative Fecal Fat Analysis - Fat analysis by microscopic examination 2 drops NS + Stool sample + 95% ethanol + SUDAN III Upto 100 globules and diameter less than 4 mm/hpf is normal Sudan staining of spot stool samples had a sensitivity of 78% and a specificity of 70% the detection of steatorrhea. GRADE NO OF FAT DROPLETS DIAMETER OF FAT DROPLETS MODERATE < 100 4-8 um SEVERE >100 6- 75um Grading of STAETORRHEA
QUANTITATIVE FECAL FAT ANALYSIS โ€ข Fecal Output Of Fat In Grams Per 24 Hours - GOLD STD โ€ข Patients should consume 70 to 120 g/day of dietary fat. โ€ข Estimation of daily stool weight for 3-5 days Fecal fat excretion โ€ข <7 g per day with a fat intake of 100 g - NORMAL โ€ข > 7g is pathological โ€ข >20 g in steatorrhea
Suspicion of exocrine pancreatic insufficency Perform fecal elastase-1 test Fecal elastase-1 concentration abnormal? Reanalyze the suspicion Immediate answer needed? Exocrine pancreatic insufficiency highly probable (E1 <100 ยตg/g normal pancreatic function unlikely, usually steatorrhea present) Long-term observation (fecal elastase-1 annually or when needed) Refer to specialized GI center (direct test possible) Assess the need for enzyme supplementation FECAL ELASTASE-1 - highly specific, non invasive - glycoprotein from pancreatic acinar - Reflects pancreatic secretion Normal>200 ug/g of stools Mild to Moderate โ€“ 100-200 Severe - < 100 No No Yes Yes
Fecal occult blood Inflammator y bowel disease, neoplasm Fecal pH, test for reducing sugar Sudan stain and estimation of fecal fat CHEMICAL EXAMINATION Carbohydrate malabsorptio n Fat malabsorption Liver disease Fecal urobilinogen Distinction between secretory and osmotic diarrhea Fecal osmotic gap MALDIGESTION (pancreatic insufficiency) MALABSORPTION (celiac sprue) FECAL FAT D- XYLOSE EXCREATION NORMAL JEJUNAL BIOPSY NORMAL ABNORMALLY FLAT
SERUM PROTEINS AS NUTRITIONAL MARKERS โ€ข ALBUMIN - as long half life (20days), doesn't reflect current status โ€ข PREALBUMIN (Transthyretin) โ€ข SOMATOMEDIN C โ€ข RETINOL-BINDING PROTEIN โ€ข TRANSFERRIN
SMALL BOWEL BIOPSY โ€ข Indicated When D-XYLOSE test is abnormal ie intestinal mucosal pathology โ€ข By endoscopy, CROSBY CAPSULE โ€ข USES : To study histology, microbiology Enzymatic/metabolic/immunologic studies CAPSULE ENDOSCOPY โ€ข Wireless miniature encapsulated video camera designed to image the entire small bowel. โ€ข Noninvasive, painless, ambulatory and disposable โ€ข Ingestible pill camera, 8-12 hrs, thousands of photos
ENDOSCPIC FINDINGS
NUTRITIONAL CONSEQUENCES IN MALBSORPTION โ€ข Always reduces the weight gain before it slows down growth rate โ€ข Loss of subcutaneous fat, muscle wasting โ€ข Vit k hemorraghic manifestation d/t impaired gamma โ†’ carboxylation (2,7,9,10) โ€ข Crohns and celiac ds: anorexia > malabsorption โ€ข Chronic inflammation, protein losing enteropathy low IGF- โ†’ 1 but NORMAL GH leading to growth failure โ€ข 13 vitamins A, D, E, K (fat soluble)
ANGULAR CHEILOSIS โ€ข DEFICIENCIES Vitamin B12 IRON FOLATE B complex vitamins
GLOSSITIS โ€ข DEFICIENCIES โ€ข Vitamin B12 โ€ข IRON โ€ข FOLATE โ€ข NIACIN
Acrodermatitis enteropathica โ€ข Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. โ€ข It is characterized by inflammation of the skin around bodily openings and the tips of fingers and toes, hair loss, and diarrhea.
PROGNOSIS โ€ข Prognosis primarily depends on the cause of malabsorption โ€ข Reasonably good in most cases, if medical and diet therapy is rigorously followed โ€ข Infectious causes if treated adequately have excellent. How Long is Therapy Necessary? Most causes of malabsorption, except infections require continuous supervision by a doctor and necessitate prolonged therapy.
TAKE HOME POINTS APPROACH TO SUSPECT MALABSORPTION โ€ข History, Dietary history โ€ข Physical exam โ€ข Routine "screening" labs โ€ข Stool analysis Selective tests based on above findings Hโ‚‚ breath tests, Celiac Abs, Abd imaging, PFT, ERCP/MRCP/EUS,Fecal al-AT Treat based on underlying disease or type of malabsorption
โ€ข Etiology of MALABSORPTON in tropical areas differs from that in temperate countries โ€ข Tropical sprue, tuberculosis a common cause of MAS in India โ€ข Celiac disease and inflammatory bowel disorders are emerging โ€ข Detailed history, physical examination mandatory โ€ข The order of testing and choice of a particular test should be individualized โ€ขEmphasis should be put on defining an underlying disease entity which then provides the basis for appropriate treatment.
REFERENCES โ€ข Nelson textbook of paediatrics 21th edition โ€ข Paediataric gastroenterology & hepatology - A RIYAZ
THANK YOU !

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MALABSORPTION SYNDROMES IN PEDIATRICS POPULATION

  • 1.
  • 2.
    ๏‚ง Include numerousclinical entities that result in- 1) Chronic diarrhea 2) Abdominal distension 3) Failure to thrive
  • 3.
    Maldigestion โ€ขDefective intraluminal hydrolysisof nutrients. โ€ขImpaired breakdown of nutrients. Carbohydrates Mono, di, oligosaccharides Proteins Amino acids , oligopeptides Fats Fatty acids , monoglycerides
  • 4.
    Malabsorption : Defectivemucosal uptake and transport of digested nutrients, vitamins, minerals. โ€ขMechanisms of malabsorption : โ€ข The integrated processes of digestion and absorption can be described in three phases: Luminal phase Mucosal phase Postabsorptive/Removal phase โ€ข Disturbances of absorptive process can take place in any of these three phases
  • 5.
    โ€ข Luminal phase Dietaryfats, proteins and carbohydrates are hydrolyzed and solubilized, largely by pancreatic and biliary secretions. Pancreatic insufficiencies Cystic fibrosis, Chronic pancreatitis Bile salt insufficiency Obstructive jaundice, bacterial overgrowth Rapid transit of food through gut Gastroenterostomy , partial gastrectomy Increased bile salt loss in faeces Crohns, ileal resection Lack of intrinsic factor Pernicious anemia Reduced gastric acid Atrophic gastritis
  • 6.
    Mucosal phase: Final hydrolysis,uptake, processing and packaging โ€ข Epithelial transport defect Inflammation, Infections โ€ข Brush border defect Congenital/ Acquired disacharidase deficiency โ€ข Defect in epithelial transport Celiac disease Tropical sprue Lymphoma
  • 7.
    Post- Absorptive/ Removalphase โ€ขDuring the removal phase, the absorbed nutrients enter the vascular or lymphatic circulation. Enterocyte processing affected โ€“ Abetalipoprotinemia Lymphatic obstructionโ€“ Intestinal lymphangectasia Abdominal lymphoma
  • 8.
    When to suspect? โ€ขProgressive weight loss - Failure to thrive - Chronic diarrhea - Abdominal distension โ€ข Steatorrhea - Edema - Weakness, Malaise, Fatigue - Abdominal pain - Excessive flatus โ€ข Symptoms reflecting specific deficiences, such as bleeding tendency, muscle cramps, tetany, bone pains and parasthesias
  • 9.
    CATEGORIZATION ASC WITH GENERALISED MUCOSALDEFECT BASED ON PREDOMINANT NUTRIENT MALABSORBED
  • 10.
    Malabsorption Disorders andChronic Diarrhea Associated with Generalized Mucosal Defect Mucosal disorders Gluten-sensitive enteropathy (celiac disease) Cow's milk and other protein sensitive enteropathies Eosinophilic enteropathy Protein-losing enteropathy Lymphangiectasia (congenital and acquired) Disorders causing bowel mucosal inflammation, Crohn disease Congenital bowel mucosal defects Microvillous inclusion disease Tufting enteropathy Carbohydrate-deficient glycoprotein syndrome Enterocyte heparan sulfate deficiency Enteric an endocrinosis (NEUROG 3 mutation) Tricho-hepatic-enteric syndrome Immnunodeficiency disorders Congenital inmunodeficiency disorders Selective iminunoglobulin A deficiency (can be associated with Celiac disease) Severe combined immunodeficiency Agammaglobulinemia X-linked hypogammaglobulinemia Wiskott-Aldrich syndrome Common variable immunodeficiency disease Chronic granulomatous disease Acquired immune deficiency HIV infectionโ€‹ Immunosuppressive therapy and post-bone marrowโ€‹ transplantationโ€‹ Autoimmune enteropathyโ€‹ IPEX @mmune dysregulation, polyendocrinopathy, enteropathy.โ€‹ X-linked inheritance) IPEX-like syndromesโ€‹ Autoimmune polyglandular syndrome type 1โ€‹ Miscellaneousโ€‹ Immunoproliferative small intestinal chise aveโ€‹ Short bowel syndromeโ€‹ Blind loop syndromeโ€‹ Radiation enteritisโ€‹ Protein-calorie malnutritionโ€‹ Crohn diseaseโ€‹ Pseudoobstructionโ€‹
  • 11.
    Malabsorptive Disorders WithGeneralized Mucosal Defects โ€ข Mucosal Disorders Celiac disease โ€“ gluten sensitive enteropathy Cow's milk and other protein- sensitive enteropathies Eosinophilic enteropathy โ€ข Protein losing enteropathy Lymphangiectasia ( congenital and acquired) Bowel mucosal inflammation Microvillous inclusion disease Immunodeficiency disorders Autoimmune enteropathy- IPEX Short bowel syndrome Blind loop syndrome Radiation enteritis Protein energy malnutrition
  • 12.
    Specific Nutrient MalabsorptiveDisorder โ€ข CARBOHYDRATE MALABSORPTION Lactose malabsorption Congenital lactase deficiency Congenital sucrase - isomaltase deficiency Glucose galactose malabsorption โ€ข FAT MALABSORPTION 2 Exocrine pancreatic insufficiency Bile acid synthetic defects Bile acid malabsorption ( terminal ileal disease) Cholestatic liver disease Chronic pancreatitis Abetalipoproteinemia Lymphangiectasia Cystic fibrosis Lipase/ colipase deficiency Protein- calories malnutrition
  • 13.
    PROTEIN/ฮ‘ฮœฮ™ฮฮŸ ACID MALABSORPTION โ€ขEnterokinase deficiency โ€ข Hartnup disease (defect in free neutral amino acids) โ€ข Blue diaper syndrome (isolated tryptophan malabsorption) โ€ข Lowe syndrome (lysine and arginine malabsorption) MINERAL AND VITAMIN MALABSORPTION โ€ข Acrodermatitis enteropathica โ€ข Vitamin B12 malabsorption โ€ข Autoimmune pernicious anemia โ€ข Congenital chloride diarrhea โ€ข Congenital sodium absorption defect โ€ข Folate malabsorption โ€ข Vitamin D dependent rickets
  • 14.
    DRUG INDUCED โ€ข Sulfasalazine:folic acid malabsorption โ€ข Cholestyramine: calcium and fat malabsorption โ€ข Anticonvulsant drugs such as phenytoin (causing vitamin D deficiency and folic acid and calcium malabsorption) โ€ข Gastric acid suppression: vitamin B12 โ€ข Methotrexate: mucosal injury โ€ข Laxatives Endocrine and metabolic disorders โ€ข Hyperthyroidism โ€ข Adrenal insufficiency โ€ข Diabetes mellitus โ€ข Hypoparathyroidism โ€ข Carcinoid syndrome
  • 15.
    INDIAN SCENARIO ? โ€ขInfections:Giardiasis, Strongyloidiasis, Tuberculosis โ€ขCeliac sprue (Gluten sensitivity) โ€ขLactose intolerance โ€ขTropical sprue โ€ขChronic pancreatitis โ€ขLymphoma, Immunoproliferative small intestinal disease (IPSID)
  • 16.
    CELIAC DISEASE (GLUTENSENS ENTEROPATHY, CELIAC SPRUE, GEE'S Ds) โ€ข Immune-mediated systemic disorder elicited by GLUTEN and related PROLAMINES in genetically susceptible individuals โ€ข Characterised by: onset 9-18 months, F3: M1 โ€ข Malabsorption โ€ข Histological abnormalities of small bowel mucosa โ€ข Improvement in gluten free diet (clinical + histological) โ€ข Relapse on gluten โ€ข Strong associated with HLA-DQ2, DQ8 haplotype
  • 17.
    Pathogenesis TRIGGERS โ€ข WHEAT GLUTEN โ†’ โ€ขRYE SECALIN โ€ข BARLEY HORDEIN GLIADINS โ€ข Single polypeptides-30-75k mw โ€ข Glutamine n proline rich โ€ข Alfa, Beta, Gamma, Omega subtypes. RICE, CORN, OATS - SAFE GLADINS GLUTENIN S GLOBULIN S ALBUMINS
  • 18.
    โ€ข Inflammatory process-Tcell mediated disruption of structure / function of mucosal lining malabsorption โ†’ โ€ขIL-15 activation by gluten peptides, triggers killing of enterocytes by lymphocytes โ€ข Blunting of villi โ€ขCrypt hypertrophy โ€ขLymphocytic infiltration
  • 19.
    Clinical Spectrum ofCeliac Disease SYMPTOMATIC โ€ข Frank malabsorption symptoms: chronic diarrhea, failure to thrive, weight loss โ€ข Extraintestinal manifestations: anemia, fatigue, hypertransaminasemia, neurologic disorders, short stature, dental enamel defects, arthralgia, aphthous stomatitis SILENT โ€ข No apparent symptoms in spite of histologic evidence of villous atrophy โ€ข In most cases identified by serologic screening in at-risk groups LATENT โ€ข Subjects who have a normal histology, but at some other time, before or after, have shown a gluten-dependent enteropathy POTENTIAL โ€ข Subjects with positive celiac disease serology but without evidence of altered jejunal histology โ€ข It might or might not be symptomatic
  • 20.
  • 21.
    DIAGNOSIS โ€ข Gold std- ESPGHAN CRITERIA (European society of pediatric gastroent, hepatology and nutrition) โœ“ Flat mucosa of GIT โœ“ Unequivocal clinical response to gluten free diet Histological evaluation based on MARSH CRITERIA Marsh grade Histological features 0 Normal mucosa 1 Increased number of intra-epithelial lymphocytes, usually exceeding 20 per 100 enterocytes 2 Proliferation of the crypts of liberkuhn 3 Variable villous atrophy 3ะฐ Partial villous atrophy 3b Subtotal villous atrophy 3c Total villous atrophy
  • 22.
    SEROLOGY โ€ข IgA abto Tissue TRANSGLUTAMINASE (tTG): Sn, Sp 90-100%, ELISA, ideal โ€ข IgA ANTIENDOMYSIAL ANTIBODY - expensive D/D-Villous changes in developing country cow milk protein intolerance, tropical sprue, sev PEM, persistent GI infection So always confirm by SEROLOGY +BIOPSY ENDOSCOPY Scalloping of small bowel loops Cracked mud appearance of
  • 24.
    COMPLICATIONS โ€ข Celiac crisis- severe dehydration, acidosis, shock โ€ข Malignancy - lymphoma, adenocarcinoma โ€ข Refractory sprue โ€ข Ulceration / stricture
  • 25.
    TREATMENT โ€ข Lifelong strictadherence to GLUTEN FREE DIET (GFD) โ€ข CODEX Alimentarius guidelines suggests - <20ppm โ€ข Refractory - AZATHIOPRINE โ€ข Family role - special recipes from locally available brown rice, corn, dal, millets, ragi, soy flour, milk products meat products, fruits, vegetables, pulses. โ€ข Sensitize parents for growth charts, monitoring.
  • 26.
    TROPICAL SPRUE โ€ข Chronicsystemic infection acquired in endemic tropical areas with abnormal small bowel structure / function. โ€ข West indies, Cuba, India , Sri Lanka etc โ€ข Aetiology : persistent infection of small bowel by Klebsiella pneumoniae E coli Enterobacter cloacae โ€ข Starts as an acute episode of diarrhea โ†’ takes longer to subside โ†’ excess flatus, abdominal cramps followed by anorexia, weakness, FTT
  • 27.
    โ€ข BLOOD: LOWlevels of B12, A, E, D, K, folate, calcium โ€ขD-XYLOSE test is positive โ€ข Stearorrhea in 90% H2 breath test - POSITIVE (d/t bacterial overgrowth) โ€ข Barium meal - thickened small bowel โ€ข Biopsy - thick basement membrane, triglyceride accumulation near to surface epithelium [celiac - lipid droplets in enterocyte] โ€ข Injury to entire small bowel (not proximal as in celiac sprue) โ€ข No changes with GLUTEN FREE DIET TREATMENT โ€ข TETRACYCLINE/CO-TRIMOXAZOLE for 3-6months โ€ข Deficiency correction-B12, folic acid
  • 28.
    D-XYLOSE TEST โ€ข Pentosesugar, passive diffusion in jejunum. โ€ข Not metabolized in body โ€ข Depends on mucosal integrity, absence of diarrhea โ€ข Independent of bile salts, pancreatic enzyme, disaccharidases โ€ข 8hr fast give 5g D-Xylose measure serum levels @ 1hr โ†’ โ†’ urine levels @ 5 hr Useful In: Celiac disease Tropical sprue Whipple's disease Crohns disease
  • 29.
    โ€ข Fate ofd-xylose in the body d-xylose consumed 50% absorbed in gut measure fraction of ingested dose excreted (>22%) measure blood level (>20 mg/dL) 25% excreted via kidney 25% released into general circulation 25% hepatic metabolism 50% excreted <20mg/dl in blood < 16% excretion in urine In abnormal intestinal absorptio n
  • 30.
    SHORT BOWEL SYNDROME โ€ขLoss of >50% of the small bowel, with or without a portion of large intestine โ€ข At birth-200-250 cm โ€ข Adult-300-800cm โ€ข Generalised / specific nutrient malabsorption depending on bowel region Duodenum and Proximal jejunum Calcium Magnesium Phosphorus Iron Folic acid Throughout the small intestine Monoglycerides and fatty acids as miceller complexes Medium chain triglycerides directly into portal circulation Proximal 100-200 cm of small intestine Carbohydrates Protein Water- soluble vitamins Distal lleum Vitamin B12 Bile acids Colon Water Electrolytes
  • 31.
    Causes of ShortBowel Syndrome CONGENITAL โ€ข Congenital short bowel syndrome โ€ข Multiple atresias โ€ข Gastroschisis BOWEL RESECTION โ€ข Necrotizing enterocolitis โ€ข Volvulus with or without malrotation โ€ข Long segment Hirschsprung disease โ€ข Meconium peritonitis โ€ข Crohn disease โ€ข Trauma
  • 32.
    INTESTINAL ADAPTATION โ€ข Hormonal: increased gastrin, enteroglucagon โ€ข Nutrients: essential fatty acids, glutamine stimulate mucosal โ†’ hyperplasia โ€ข Growth factors: transforming growth factors (TGF) regulates proliferation and turnover
  • 33.
    TREATMENT โ€ข Initial focuson fluid replenishment and correct electrolytes โ€ข After stabilization - BOWEL REHABILITATION โ€ข Continuous small volume enteral feeds, hydrolysed protein + mct oil For gut stimulation and mucosal growth, inc pancreaticobiliary flow โ€ข Concurrent parenteral support till max absorption is reached โ€ข Start ASAP to avoid oral aversion โ€ข 50% achieve enteral autonomy within 5yrs โ€ข H2 blockers till 1 year โ€ข Cholestyramine for explosive diarrhea + bile loss โ€ข Antibiotics to control bacterial overgrowth
  • 34.
    Surgical Treatment โ€ข Toslow intestinal transit, to increase mucosal surface area โ€ข Small bowel transplant Complications โ€ข Cather related (long term), thrombosis, cirrhosis โ€ข Sepsis โ€ข Vit deficiency โ€ข Steatorrhea hyperoxaluria renal stones โ†’ โ†’
  • 35.
    BLIND LOOP SYNDROME โ€ขWhen the normal bacterial flora of the Small intestine proliferates abnormally to cause significant derangement to the normal physiological processes of digestion and absorption. โ€ข Mechanism to prevent overgrowth is lost (acidic ph, stagnation, obstruction, anamolies) โ€ข Achlorhydria, dysmotility, fistulae, and strictures, Chronic or high dose opioid therapy โ€ข Loss of appetite โ€ข Nausea โ€ข Flatulence โ€ข Diarrhea โ€ข Fullness after a meal โ€ข Fatty stools (steatorrhea) โ€ข Unintentional weight loss โ€ข Generalised weakness
  • 36.
    โ€ข Vitamin B12deficiency โ€ข Folate deficiency โ€ข Iron deficiency โ€ข Vitamin E deficiency TREATMENT Tetracyclin, Rifaximin, metronidazole Surgical management
  • 37.
    INFLAMMATORY BOWEL DISEASE โ€ขCROHNS > ULCERATIVE COLITIS, small BOWEL is predominantly involved. โ€ข Significant weight loss, growth failure, malabsorption 85% in crohns โ†’ patients โ€ข Excessive levels of proinflammatory cytokines are implicated in causing anorexia โ€ขmultiple nutritional deficiencies + negative nitrogen balance โ€ข Optimizing nutritional status and growth are key priorities โ€ข Osteopenia / osteoporosis, low vit D, Bile acid malabsorption โ€ข Oral > enteral feeding (max weight gain)> parenteral
  • 38.
    PROTEIN LOSING ENTEROPATHY โ€ขLoss of proteins into GI TRACT 1) INFLAMED MUCOSA/ULCERATION- infection, IBD, Celiac, tropical sprue 2) LYPHATIC OBSTRUCTION-1, 2 intestinal lymphangiectasia, CHF, Pericarditis 3) EPITHELIAL CELL DYSFUNCTION Congenital disorders of glycosylation, Enterocyte heparin sulfate deficiency LYPHATIC OBSTRUCTION โ†’ Increase Lymphatic pressure, stasis โ†’ lymph loss into GI tract including lymphocytes (lymphopenia), Ig, protein, lipids
  • 39.
    INTESTINAL LYMPHANGECTASIA โ€ข Proteinlosing gastroenteropathy d/t dilatation of intestinal lymphatics n loss of lymphatic fluid into GI tract. โ€ข Hypoproteinemia, edema, immunological anomalies โ€ข Associated with Turner, Noonan syndrome โ€ข Manifest with ascites, peripheral edema and a low serum albumin. โ€ข Fecal alfa 1 antitrysin raised โ€ข Video capsule endoscopy โ€ข TREATMENT-restrict long chain fats, give protein and Medium chain triglycerides (MCTs) supplements MCT - no need of micelle formation, direct lymphatic absorption
  • 40.
    WHIPPLE'S DISEASE Chronic systemicinfection - TROPHERYMA WHIPPLEI โ€ข Diarrhea, โ€ข Abdominal pain, weight loss and joint pains, Malabsorption, steatorrhea โ€ข Lymphadenopathy + โ€ข Skin hyperpigmentation, and neurologic changes. โ€ข Doudenal biopsy - PAS-positive foamy macrophage inclusions โ€ข TREATMENT - IV CEFTRIAXONE/MEROPENAM - 14 days and - COTRIMOXAZOLE โ€“ 1 year
  • 41.
    IMMUNODEFICIENCY DISORDERS โ€ข SelectiveIga Deficiency โ€ข Agammaglobulinemia, โ€ข Wiskott-aldrich Syndrome โ€ข Common Variable Immunodeficiency Disease (CVID) โ€ข Severe Combined Immunodeficiency(SCID) โ€ข Chronic Granulomatous Disease Are complicated by Chronic Rotavirus Giardiasis Bacterial Overgrowth, Protein-losing Enteropathy Villous Atropy Secondary Disaccharidase Deficiency โ€ข HIV: Opportunistic infections by Cryptosporidium parvum, cytomegalovirus, Mycobacterium avium-intracellulare, Isospora belli โ€ข Cancer chemotherapy: damage the bowel mucosa, leading to secondary malabsorption of disaccharides such as lactose.
  • 42.
    MICROVILLOUS INCLUSION DISEASE โ€ขAR โ€ข AT BIRTH - profuse watery secretory diarrhea โ€ข h/o polyhydramnios โ€ข Persistent diarrhea difficult fluid management fatal โ†’ โ€ข Microscopy - diffuse thinning of mucosa with hypoplastic villi โ€ข Electron microscopy - Apical cytoplasm contains electron dense secretory granules. โ€ข Octreotide, steroid can be tried
  • 43.
    CARBOHYDRATE MALABSORPTION Enzyme: aamylase (Ptyalin) - Parotid Glands Action: Acts on starches to form maltose and glucose 3-9 polymers. Enzyme: a amylase (Ptyalin) - Parotid Glands Action: Digestion continues in the stomach for up to 1 hour. 30-40% starches converted to maltose and glucose polymers. Enzyme: a amylase (Pancreatic) Action: 50-80% starches converted to maltose and glucose polymers before passing beyond duodenum or upper jejunum. Enzyme: Lactase, Sucrase, Maltase and alfa dextrinase (Enterocytes lining the Villi) Action: Lactose (Lactase) Galactose + Glucose โ†’ Sucrose (Sucrase) Fructose + Glucose Maltose (Maltase) Glucose + Glucose โ†’ 3-9 Glucose polymers (a dextrinase) Glucose. โ†’
  • 44.
    SYMPTOMS โ€ข Undigested disaccharidesosmotic load attracts water โ†’ โ†’ โ†’ โ€ข Unabsorbed carbohydrates in large bowel bacterial fermentation โ†’ โ†’ H2, CO2, Methane Organic acids โ€ข EXCESSIVE FLATUS โ€ข BLOATING โ€ข DISTENSION PAIN LOOSE WATERY DIARRHEA ACIDIC pH OF STOOLS
  • 45.
    DISSACHARIDES? โ€ข Enzymes inmature brush border epithelial cells converts di monosaccharides โ†’
  • 46.
    LACTASE DEFICIENCY โ€ข Congenitallactase deficiency: very rare, <50 cases, LCT gene mutation โ€ข Primary adult type - lactate: โ€ข Physiologic decline in lactase activity that occurs following weaning in most mammals โ€ข Peak lactase activity from term to 3 yr, after which levels gradually decrease with age and has ETHNIC variability โ€ข Blacks > Asian > whites
  • 47.
    โ€ข Secondary lactasedeficiency โ€ข Seen in healthy individuals during episodes of acute illness โ€ข In acute GE, coeliac disease, Crohn's disease, ulcerative colitis chemotherapy, intestinal parasites โ€ข TEMPORARY
  • 48.
    LACTOSE INTOLERANCE V/SMILK ALLERGY LACTOSE INTOLERANCE MILK ALLERGY A sensitivity An allergy Occurs in GI system Triggered by immune system A sensitivity to milk carbohydrates (lactose) A reaction to milk protein Rare in young children Generally impacts young children; may be outgrown lactose-free milk NO SYMPTOMS โ†’ SYMPTOMS +
  • 49.
    TREATMENT โ€ข To limitthe intake of lactose to a level that can be tolerated โ€ข Usually able to consume at least 12 grams of lactose per sitting โ€ข DAIRY that can be taken: Butter, Yogurt, Cheese โ€ข Substitutes: soy milk, almond milk, coconut milk โ€ข Commercially available: lactase enzyme, แบž-galactosidase
  • 50.
    FRUCTOSE MALABSORPTION โ€ข Largequantity of juice rich in fructose, corn syrup, or natural fructose in fruit juices โ€ข Reduced levels GLUT-5 transporter on the surface of the intestinal brush- border membrane โ€ข Different from Hereditary fructose intolerance IEM, ALDOLASE B โ†’ deficiency, hypogycemia, convulsion, jaundice, hepatomegaly โ€ข TREATMENT - restriction, Xylose isomerase (fructose glucose) โ†’
  • 51.
    TESTS FOR CARBOHYDRATESMALABSORPTION HYDROGEN BREATH TEST Simple, non-invasive, and is performed after a short period of fasting (12hrs) Principle: โ€ข malabsorbed sugar passes into colon โ€ข bacteria produce hydrogen gas โ€ขHโ‚‚ diffuses into blood and is excreted by lungs โ€ข Baseline reading lactose 25g take readings every 15, 30 or 60 minutes for โ†’ โ†’ two to three hours โ€ข If the level of hydrogen rises above 20 ppm lactose malabsorber โ†’ โ€ข Also used for fructose / sucrose malabsorption, small intestinal bacterial overgrowth โ€ข Drawback- 18% of people are hydrogen nonexcretors
  • 53.
    FAT MALABSORPTION โ€ข Lipids- 90% triglycerides Problems associated with fat absorption โ€ข Not water soluble โ€ข Do not mix with intestinal contents โ€ข Form fat droplets LIPASE LINGUAL GASTRIC PANCREATIC
  • 54.
    โ€ข MOST fatdigestion occurs in DOUDENUM โ€ข BILE SALTS EMULSIFY fat droplets increase surface area for lipase โ†’ to act โ€ข Bile salts: synthesized from CHOLESTROL, secreted by liver, stored in GB, Secreted into duodenum
  • 56.
  • 57.
  • 58.
    MECHANISMS OF FATMALABSORPTION โ€ข Pancreatic insufficiency โ€ข Bile acid deficiency โ€ข Small intestinal bacterial overgrowth โ€ข Loss of absorptive surface area โ€ข Defective enterocyte function โ€ข Lymphatic disorders
  • 59.
    CHRONIC PANCREATITIS โ€ข Pancreaticexocrine insufficiency โ€ข Destruction of acini n ducts by own proteolytic enzymes โ€ข Obstructive, Calcific type โ€ข Reduced secretion of digestive enzymes (LIPASES), bicarbonate โ€ข Malabsorption of fat due to loss/inactivation of pancreatic enzymes Leads to weight loss โ€ข Bulky, oily stool - STEATORRHEA โ€ข Fat soluble vitamin deficiency may occur in long-standing cases โ€ข Edema/hypoproteinemia โ€ข Due to malnutrition with decreased hepatic synthesis of albumin/serum proteins
  • 60.
    Overview of ExocrinePancreatic Insufficiency Symptoms MALABSORPTION OF LIPID SOLUBLE VITAMINS EXOCRINE PANCREATIC INSUFFICIENCY DEFICIENCY OF VIT B12 EXACERBATE MOTILITY DISORDERS OEDEMA WEIGHT LOSS ABDOMINAL DISTENSION STEATORRHEA DIARRHEA
  • 61.
    INVESTIGATIONS in acutepancreatitis - โ€ข LIPASE > 130U โ€ข Hyperglycemia, hyperbilirubinemia, hypertriglyceridemia, hypocalcemia Bile salt deficiency: terminal ileum resection loss of bile salts in stool insufficient bile salts production Bacterial overgrowth: Deconjugation and loss of bile acids Gastric hypersecretion: Acid inactivation of pancreatic enzymes
  • 62.
    ABDOMINAL XRAY: USG: atrophic, calcifiedor fibrotic (advanced stages)
  • 63.
    CT CONTRAST: โ€ข dilatationof the main pancreatic duct, calcification, pseudocysts
  • 64.
  • 65.
    CYSTIC FIBROSIS โ€ข Multisystemdisease, AR, most common lethal genetic disease in Caucasians โ€ข Cystic fibrosis transmembrane conductance regulator (CFTR) - chromosome 7 โ€ข Most common F508 deletion- genotype โ€ข Abnormality in CFTR blocks chloride transport, with inadequate hydration results in thick secretion of exocrine glands. Pancreatic insufficiency Pancreatic enzymes stay in ducts and are activated intraductally Autolysis of pancreas Inflammation, calcification, plugging of ducts, fibrosis Intestinal abnormality Meconium ileus (15% newborns with CF) Distal intestinal obstruction syndrome (DIOS) Rectal prolapse Recurrent Pancreatitis Shrunken, cystic pancreas
  • 66.
    MALABSORPTION FAILURE TO THRIVE FATSOLUBLE VITAMIN deficiency HYPOPROTEINEMIC EDEMA INCREASE LIVER ENZYMES BILIARY CIRRHOSIS PORTAL HYPERTENSION GIANT CELL HEPATITIS CHOLELITHIASIS BILE DUCT OBSTRUCTION ASSOCIATED LIVER DISEASE SPECTRUM (30%) MAINLY BILE DUCT ORIGIN
  • 67.
    INVESTIGATIONS โ€ข SWEAT CHLORIDETEST โ€ข ANC USG: Hyperechoic meconium, dilated small bowels, GB can't be seen properly TREATMENT โ€ข Proactive treatment of airway infection โ€ข Pulmonary rehab โ€ข10% N-Acetylcysteine enema โ€ข Liver transplantation โ€ข Cholecystectectomy
  • 68.
    72-hour Fecal FatTest Fat Absorption Fat input = 100 g/day Malabsorbed fat: Normal< 7 g/day
  • 69.
    โ€ข Qualitative FecalFat Analysis - Fat analysis by microscopic examination 2 drops NS + Stool sample + 95% ethanol + SUDAN III Upto 100 globules and diameter less than 4 mm/hpf is normal Sudan staining of spot stool samples had a sensitivity of 78% and a specificity of 70% the detection of steatorrhea. GRADE NO OF FAT DROPLETS DIAMETER OF FAT DROPLETS MODERATE < 100 4-8 um SEVERE >100 6- 75um Grading of STAETORRHEA
  • 70.
    QUANTITATIVE FECAL FATANALYSIS โ€ข Fecal Output Of Fat In Grams Per 24 Hours - GOLD STD โ€ข Patients should consume 70 to 120 g/day of dietary fat. โ€ข Estimation of daily stool weight for 3-5 days Fecal fat excretion โ€ข <7 g per day with a fat intake of 100 g - NORMAL โ€ข > 7g is pathological โ€ข >20 g in steatorrhea
  • 71.
    Suspicion of exocrine pancreaticinsufficency Perform fecal elastase-1 test Fecal elastase-1 concentration abnormal? Reanalyze the suspicion Immediate answer needed? Exocrine pancreatic insufficiency highly probable (E1 <100 ยตg/g normal pancreatic function unlikely, usually steatorrhea present) Long-term observation (fecal elastase-1 annually or when needed) Refer to specialized GI center (direct test possible) Assess the need for enzyme supplementation FECAL ELASTASE-1 - highly specific, non invasive - glycoprotein from pancreatic acinar - Reflects pancreatic secretion Normal>200 ug/g of stools Mild to Moderate โ€“ 100-200 Severe - < 100 No No Yes Yes
  • 72.
    Fecal occult blood Inflammator y bowel disease, neoplasm FecalpH, test for reducing sugar Sudan stain and estimation of fecal fat CHEMICAL EXAMINATION Carbohydrate malabsorptio n Fat malabsorption Liver disease Fecal urobilinogen Distinction between secretory and osmotic diarrhea Fecal osmotic gap MALDIGESTION (pancreatic insufficiency) MALABSORPTION (celiac sprue) FECAL FAT D- XYLOSE EXCREATION NORMAL JEJUNAL BIOPSY NORMAL ABNORMALLY FLAT
  • 73.
    SERUM PROTEINS ASNUTRITIONAL MARKERS โ€ข ALBUMIN - as long half life (20days), doesn't reflect current status โ€ข PREALBUMIN (Transthyretin) โ€ข SOMATOMEDIN C โ€ข RETINOL-BINDING PROTEIN โ€ข TRANSFERRIN
  • 74.
    SMALL BOWEL BIOPSY โ€ขIndicated When D-XYLOSE test is abnormal ie intestinal mucosal pathology โ€ข By endoscopy, CROSBY CAPSULE โ€ข USES : To study histology, microbiology Enzymatic/metabolic/immunologic studies CAPSULE ENDOSCOPY โ€ข Wireless miniature encapsulated video camera designed to image the entire small bowel. โ€ข Noninvasive, painless, ambulatory and disposable โ€ข Ingestible pill camera, 8-12 hrs, thousands of photos
  • 75.
  • 76.
    NUTRITIONAL CONSEQUENCES INMALBSORPTION โ€ข Always reduces the weight gain before it slows down growth rate โ€ข Loss of subcutaneous fat, muscle wasting โ€ข Vit k hemorraghic manifestation d/t impaired gamma โ†’ carboxylation (2,7,9,10) โ€ข Crohns and celiac ds: anorexia > malabsorption โ€ข Chronic inflammation, protein losing enteropathy low IGF- โ†’ 1 but NORMAL GH leading to growth failure โ€ข 13 vitamins A, D, E, K (fat soluble)
  • 77.
    ANGULAR CHEILOSIS โ€ข DEFICIENCIES VitaminB12 IRON FOLATE B complex vitamins
  • 78.
    GLOSSITIS โ€ข DEFICIENCIES โ€ข VitaminB12 โ€ข IRON โ€ข FOLATE โ€ข NIACIN
  • 79.
    Acrodermatitis enteropathica โ€ข Acrodermatitisenteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. โ€ข It is characterized by inflammation of the skin around bodily openings and the tips of fingers and toes, hair loss, and diarrhea.
  • 80.
    PROGNOSIS โ€ข Prognosis primarilydepends on the cause of malabsorption โ€ข Reasonably good in most cases, if medical and diet therapy is rigorously followed โ€ข Infectious causes if treated adequately have excellent. How Long is Therapy Necessary? Most causes of malabsorption, except infections require continuous supervision by a doctor and necessitate prolonged therapy.
  • 81.
    TAKE HOME POINTS APPROACHTO SUSPECT MALABSORPTION โ€ข History, Dietary history โ€ข Physical exam โ€ข Routine "screening" labs โ€ข Stool analysis Selective tests based on above findings Hโ‚‚ breath tests, Celiac Abs, Abd imaging, PFT, ERCP/MRCP/EUS,Fecal al-AT Treat based on underlying disease or type of malabsorption
  • 82.
    โ€ข Etiology ofMALABSORPTON in tropical areas differs from that in temperate countries โ€ข Tropical sprue, tuberculosis a common cause of MAS in India โ€ข Celiac disease and inflammatory bowel disorders are emerging โ€ข Detailed history, physical examination mandatory โ€ข The order of testing and choice of a particular test should be individualized โ€ขEmphasis should be put on defining an underlying disease entity which then provides the basis for appropriate treatment.
  • 83.
    REFERENCES โ€ข Nelson textbookof paediatrics 21th edition โ€ข Paediataric gastroenterology & hepatology - A RIYAZ
  • 84.