Approach and Management of Malabsorption Syndromes in children
Dr. Raheel Ahmed MBBS, FCPS
Children Hospital, Chandka Medical College, Larkana
Etiology
Common causes
Coeliac Disease
Cystic Fibrosis
Post gastroenteritis syndrome
Bacterial overgrowth
Tuberculosis
HIV (immunodeficiency)
Giardiasis
Rare Causes
IBD;
Crohn’s disease (CD); Ulcerative colitis (UC)
Short Bowel Syndrome
CLD with cholestasis
Immunodeficiency syndromes
Intestinal lymphangiectasia
Abetalipoproteinemia
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Approach and Management of Malabsorption Syndromes in children.pptx
1. Approach and Management of
Malabsorption Syndromes in children
Dr. Raheel Ahmed MBBS, FCPS
Children Hospital, Chandka Medical College, Larkana
2. Outline
Introduction
Epidemiology
Physiology
Etiology and classification
History
Examination
Investigation
Important Diseases with Management
3. Question1
At 1 year of age, a boy was at the 50th percentile for height
and weight. At 2 years of age, he is at the 25th and 10th
percentiles respectively. Review of systems reveals
fussiness, loose stools, and possibly stomach aches all
beginning after the mother stopped breastfeeding the boy
and introduced table foods. Mother has consumed milk
products lifelong, but her son does not drink cow milk.
Which is the most likely cause of these symptoms
(A) toddler’s diarrhea
(B) lactose intolerance
(C) celiac disease
(D) cow milk protein allergy
(E) chronic giardiasis
4. Question 2
Who is at risk for celiac disease?
a. People with a second-degree relative who has
celiac disease
b. People who have lactose intolerance
c. People who have congenital diseases
d. People who have an autoimmune disease
5. Question 3
The most common congenital disorder associated with
exocrine pancreatic insufficiency is?
a. Shwachman- Diamond syndome
b. Johamson –Blizzad Syndome
c. Pearson- bone marow syndome
d. Isolated pancreatic defiiency
e. Cystic Fibrosis
7. Introduction
Maldigestion: impaired breakdown of nutrients to
absorbable split products.
Malabsorption: defective mucosal uptake and
transport of adequately digested nutrients including
vitamins and trace elements.
Malabsorption Syndrome (MAS): It is a clinical
term that encompass defects occurring during
digestion and absorption of food nutrients by GIT.
8. Introduction
A diagnostic problem, not a specific disease.
It is a state where there is inadequate digestion
and/or inadequate absorption across the intestinal
mucosa,
Related to digestive factors (e.g. pancreatic enzyme, bile)
and/or
absorptive factors (e.g. mucosal changes)
9. Epidermiology
It is common problem in TROPICS including
PAKISTAN.
Celiac disease is frequently reported as cause of
MAS in children as well as adults
Cystic fibrosis is the second most malabsorption
Syndrome
10. Normal Physiology
The integrated process of digestion and absorption can be
described in three phases:
1. Luminal Phase:
Dietary fat, protein and CHO are hydrolyzed and solubilized
depending largely on pancreatic and biliary secretion.
2. Mucosal Phase:
Final hydrolyzed and uptake of sacharides and peptides take place
from lumen into cells and
lipids taken up by epithelial cells are processed and package for
cellular export
3. Post absorptive phase:
Transported via lymphatics and portal circulation from epithelial cells
to other parts of body.
12. Etiology and Classification
Defects in Luminal Phase
A. Impaired hydrolysis
Digestive enzyme Deficiency Cystic fibrosis, Chronic Pancreatitis,
Shwachman-Diamond Syndrome,
Inadequate mixing of nutrinets, bile
and enzymes
Rapid intestinal transit,
Gastrojejunostomy,
Total/ partial gastrectomy
Failure to convert proenzyme to active Enterokinase trysinogen deficiency
B. Impaired micelle formation
Dec bile salt synthesis Cirrhosis
Impaired bile secretion Biliary atresia, chronic cholestasis
Impaired enetrohepatic circulation Ileal resection/ disease
Bile salt deconjugation Bacterial overgrowth
C. Impaired luminal processing
Dec intrinsic factor Pernicious enemia
Bacterial consumption of food Bacterial overgrowth
13. Mucosal Phase
A. Brush border hydrolysis
Congenital disacharidase defect Sucrase- isomaltase deficiency
Acquired disacharidase defect Lactase intolerance
B. Epithelial Transport
Nutrinet specific defect in transport Hartnup’s disease
Global Defect in transport Celiac disease,
C. Villus abnormalties
Congenital defect in villus structure Microvillus inclusion disease,
Reduced mucosal surface area Short bowel syndrome, malnutrition
Inflamation of villus Post-infectious diarrhea, coeliac disease,
Allergic enteropathy (CMP), whipple’s
disease, immunodeficiency syndromes,
autoimmune enteritis
Etiology
14. Post Absorptive Phase
Defective intracellular lipid transport Abetalipoproteinemia
Inadequate lymphatic circulation Intestinal lymphangiectasia,
mycobacterium infection
Abnormal water and electrolyte transport Giardiasis
Systemic Diseases associated with
Malabsorption
Addison’s Disease,
Thyrotoxicosis,
Hypothyroidism,
Diabetes Mellitus,
Etiology
18. Clinical Presentation
Mainly depends upon
underlying condition.
Common symptoms include:
Weight loss
Chronic diarrhea
Steatorrhea
Flatulence
Anoxia
Fatigue
Anemia
Bone fragility
Edema
Abdomen dissension
19. History
Chronology of symptoms
Age at onset of symptoms
Intractable diarrhea as neonate
congenital villus dysfunction
3-9 month severe diarrhea or
moderate diarrhea after 9 month
coeliac disease
IBD is very rare before 8 years
Weight
Birth weight, progress of weight,
current weight
Timing of when weight started to
diminish,
Rate of weight loss
20. Feeding
Initial feeding
Age at introduction of cow’s milk, CMP intolerance
Age at introduction of first solids,
Age at introduction of first cereals, type of cereals coeliac
Age at introduction of first fruits sucrase-isomaltase def
Appetite,
Poor feeding with irritability iron deficiency + celiac disase
Dietary resitrictions
To avoid diarrhea
History
21. Stool
Appearance, volume, fluidity, offensiveness,, frequency,
difficulty in flushing stools steatorrhoea or excessive gas
Loose bulky stool, associated blood crohns disease (CD)
Pale, greasy offensive diarrhea (fat loss)
Abdominal bloating, flatus, with diarrhea (carbohydrate loss)
Pasty yellowish offensive stool (pancreatic enzymes def)
Green stool with undigested peas and carrots (Toddler’s)
History
22. Symptoms of specific nutrition deficiencies
Pallor (iron, folic, B12)
Night- blindness (vit A)
Atexia (vit E)
Bruising, bleeding, hematoma (vit K)
Rashes (zinc and various vitamins)
Bone pain/ fracture (Ca and vit D)
Edema, muscle atrophy, amenorrhea (protein loss)
History
23. Specific diagnostic clue
Chest infection (cystic fibrosis, Disseminated TB)
Arthralgia and EN/EM rashes ( IBD; CD)
Travel (giardiasis)
Susceptibility to infections (immunodeficiency)
Family History
CF, coeliac disease, autoimmune disorder (DM1,thyroidism e.t.c)
Disacchridase deficiency, infestations
Past History
NEC as neonates, abdominal surgery
Drug History
History
27. Herpetiform clusters of
vesicles on an erythematous,
edamatous base with crusts
and postinflammatory
pigmentation on the upper
back and shoulder.
Dermatitis herpetiformis
28. Approach to Diagnosis
Algorithm is included in
syllabus
Suspicion of Malabsorption
Diarrhea
Nutritional deficiencies
Weight loss
Excessive food intake
Specific Tests for
Blood Tests Stool Tests Malabsorption
LFT,Albumin,PT
U/C/E
Coeliac disease serology
Minerals: Ca,Mg,Fe
CBC, ESR
HIV serology/ immunoglobulin
(presence of
malabsorbed
materials)
Sudan stain
for fat
Volume and
consistency of
stool
Reducing substances
Fecal leukocytes
(rule out inflammatory
process)
Vitamins level
72 hour fecal fat
d-xylose absorption
H2 breath test
Pancreatic
function tests
14C (13C) bile acid
breath tests
Schilling’s test
Diagnostic Tests
Small bowel biopsy
Small bowel culture
Small bowel/pancreatic x-rays
Screening Tests
29. Investigation
Stool
Pus cells (colonic disease,CD)
Eosinophils (CMP intolerance)
Occult blood (IBD)
Cysts or trophozytes (Giardiasis, worms)
Fat globulin (CF or SDS-maldigestion)
Fatty acid crystals (Coeliac disease, malabsortion)
pH, Reducing substances (CHO malabsorption)
Culture for Pathogens (Cryptosporidium, Yersina)
Bile acids (SBS with 40-80%ileal resection)
72hr feacal fat assessment
Faecal alpha-1-antitrypsin excretion test (FA1AT) PLE
This is raised in CD and coeliac disease, (but NOT in CF or CLD)
30. Blood
CBC with periphral smear
ESR (Chronic infection, IBD)
LFT (CLD, CD with PLE)
Urea, creatinine, Electrolytes
Coeliac disease serology: tTG Ig-A antibodies, EMA IgA
IBD serology screening tests: pANCAs, ASCA, anti-ompc
HIV serology
Immunoglobulin levels
HbF (SDS)
Vitamins Level
Minerals Level
31. Imaging
X-ray Chest (CF, TB)
X-ray Bone
Bowel contrast study
CT scan of liver and pancreas
Radiolabelled Tc albumin lymphatic scan (lymphangectasia)
Small bowel Biopsy
Gold standard test to diagnose villus injury
Biopsy can also determine mucosal enzyme deficiencies
32.
33. Others
Sweat chloride test
Breath Hydrogen Test
Hydrogen excretion ↑ in bacterial overgrowth, CHO malabsorption
D-xylose test
differentiates pancreatic from small intestinal malabsorpton.
D-xylose is normal in pancreatic disease.
Schilling Test
Urinary catecholamines and serotonin
Duodenal intubation
Gold standard for exocrine pancreatic function,
36. A genetic autoimmune disorder characterized by chronic inflammation of
the proximal small intestine mucosa
Permanent intolerance to gladins found in wheat, barley, rye and oats
(BROW).
Malabsorption of carbohydrates, protein, fat, vitamins, and minerals may
occur, resulting in diarrhea, flatulence, weight loss, and vitamin and
mineral deficiencies.
People who have a first-degree relative with celiac disease, people with
Down syndrome, and those with an autoimmune disease are at risk for
celiac disease.
Untreated celiac disease is associated with an increased incidence of
small bowel cancers and enteropathy-associated T-cell lymphoma
Celiac Disease
40. Nutrition therapy
o Only scientifically proven treatment for celiac disease is
to permanently eliminate gluten from the diet.
o corn and rice become substitute grain foods.
o Lactose intolerance secondary to celiac disease may be
temporary or permanent.
o Specific nutritional deficiencies are treated with
appropriate supplements including vitamins, iron,
calories.
o
Celiac Disease
42. Cystic fibrosis
Most common serious pulmonary genetic disease in children.
Multisymptom disorder affecting the exocrine glands (mucous
producing glands) of white children
Thick secretions in the pancreas block the ducts leading to
degeneration and fibrosis
Fibrosis prevents pancreatic enzymes from reaching the
duodenum (lipase, trypsin, amylase) which impairs digestion
and absorption of fats, proteins and to a lesser degree
carbohydrates
Result: excessive stool fat (steatorrhea) and protein
(azotorrhea)
43. DIAGNOSIS
Suspected
when the child is identified as FTT or suffers frequent repeated
URI
Positive family history aids in diagnosis
Chest xray reveals
atelectasis and obstructive emphysema
PFT’s indicate
abnormally small airway function in CF
Sweat test:
stimulate the production of sweat, collecting & measuring the
sweat electrolytes
NL SWEAT CHLORIDE: 5-35 mEq/L
CHLORIDE greater than 60 mEq/L up to 200 mEq/:: means
diagnosis of CF
Test is done on two separate occasions
44. DIAGNOSIS
Stool analysis for fat
DNA studies are helpful in the 70% of CF carriers;
prenatal testing not yet available
45. MANAGEMENT OF
GASTROINTESTINAL PROBLEMS
Replace pancreatic enzymes with meals and snacks
so that when the food reaches the duodenum will
have the appropriate enzymes
Use 1-5 with each meal
Comes in capsules, can sprinkle on food
Diet
High in calories (150% of recommended daily allowance)
Fat restriction not necessary
Multivitamins
Vit K
Salt supplements in hot weather
46. Question
At 1 year of age, a boy was at the 50th percentile for height
and weight. At 2 years of age, he is at the 25th and 10th
percentiles respectively. Review of systems reveals
fussiness, loose stools, and possibly stomach aches all
beginning after the mother stopped breastfeeding the boy
and introduced table foods. Mother has consumed milk
products lifelong, but her son does not drink cow milk.
Which is the most likely cause of these symptoms
(A) toddler’s diarrhea
(B) lactose intolerance
(C) celiac disease
(D) cow milk protein allergy
(E) chronic giardiasis
47. Answer
c. Celiac disease
Celiac disease, or gluten-sensitive enteropathy,
typically presents at 6 months to 2 years of age,
after the introduction of gluten into the diet.
48. Question
Who is at risk for celiac disease?
a. People with a second-degree relative who has
celiac disease
b. People who have lactose intolerance
c. People who have congenital diseases
d. People who have an autoimmune disease
49. Answer
d. People who have an autoimmune disease
Rationale: People who have a first-degree relative
with celiac disease, people with Down syndrome,
and those with an autoimmune disease are at risk
for celiac disease.
50. Question
The most common congenital disorder associated with
exocrine pancreatic insufficiency is?
a. Shwachman- Diamond syndome
b. Johamson –Blizzad Syndome
c. Pearson- bone marow syndome
d. Isolated pancreatic defiiency
e. Cystic Fibrosis