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

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

6. Introduction

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.

11. Normal Digestion and Absorption
Luminal processes Mucosal processes

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

17. 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

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

24. Examination
Specefic findings indicaes
specific disorders:
Edema  PLE,
Clubbing  CF, CD
Perianal And Circomoral
Rashes  Acrodermatitis
Eneropahica,

25. Angular Cheilosis
Deficiencies:
Vitamin B-12
Iron
Folate
B vitamins
Deficiencies of:
Vitamin B-12
Iron
Folate
Niacin
Glossitis
Red tongue with burning sensation
B-12 deficiency with hypersegmented PMNs

26. Zinc Deficiency
Acrodermatitis
Steatorrhea
Erythema Nodosum

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

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,

35. Coeliac Disease

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

37. Stereomicroscopic view of
small bowel biopsies:
Normal (below)
Celiac sprue (right)

38. Celiac Disease
Normal small bowel

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

41. Cystic Fibrosis

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

51. Answer
e. Cystic Fibrosis