3. Clinical manifestations
Steatorrhea (bulky, light colored stools)
Diarrhea
TG’s
Fats, CHO, Water
Weight loss; muscle wasting Fats, Proteins, CHO
Anemia
Iron, B12, folate
Paresthesias, tetany, Calcium, Vit D
Bone pain pathological fractures, deformities Calc
Bleeding tendencies Vitamin K
Edema Proteins
4. Laboratory findings
Increase in fecal fats
Decreased albumin and proteins
Decreased Ca, Iron, B12, red cell folate
Prolonged prothrombin time
Abnormal D-Xylose absorption
Decreased Vitamin A, carotene levels
5. Normal digestion
Intraluminal phase: Nutrients are hydrolyzed
and solubilized
fats: monoglycerides and fatty acid
proteins: di- and tri-peptides, amino acids
CHO: di- and mono-saccharides
6. Defects in intra-luminal phase
Decreased pancreatic enzymes
Chronic pancreatitis, cystic fibrosis, Z-E syndrome
Insufficient bile salts
Biliary obstruction
Resection and /or diseases of terminal ileum
Bacterial overgrowth
Produce significant steatorrhea. Protein and CHO
digestion is affected less
8. Defects in mucosal phase
Deficiency of brush border enzymes
Lactase
Short bowel syndrome
Malabsorption of all nutrients; fats, CHO, and
proteins
9. Absorptive phase
Majority of nutrients are directly absorbed from
epithelial cells into blood stream
Chylomicrons and lipoproteins are absorbed through
lymphatics; lymphatic obstruction can impair their
absorption
Leads to steatorrhea and protein losing enteropathy
10. Labs
Routine blood tests in
malabsorption
Microcytic anemia (iron deficiency)
Macrocytic anemia(folate or B12 deficiency)
Increased prothrombin time (vit. K def)
Hypoalbunemia
Hypocalcemia and Vit. D def
Deficiencies of zinc, phosphate, and magnesium
11. Case presentation
Ms. Sakina is 22years of age and came to her
physician with complaints of weakness, easy
fatiguability and body aches and pains.
She passes 2-3 loosely formed, pale and bulky stools
per day, and has abdominal bloating for the last six
months.
She has a reasonable appetite; has no food fads; and
belongs to middle socioeconomic class.
12. No past H/O abdominal complaints.
No associated fever or constitutional symptoms.
No H/O abdominal surgery or radiation therapy.
One elder sister has related symptoms.
13. Differential diagnosis
What is the possible cause?
Malabsorption
Intra-luminal phase defects?
Mucosal phase defects?
Absorptive phase defects?
14. Physical findings
Ms. Sakina was found to be pale. Her BMI was 19.6.
She neither had edema nor any skin bruises. She had
bone tenderness and a positive Chvostek’s sign.
The abdomen was distended, soft, non tender, with
no organomegaly; it was hyper-resonant on
percussion.
Can you make a diagnosis now?
16. What is this history, physical examination, and lab
data suggestive of?
Malabsorption due to ?
Further lab tests are needed to find a possible
cause
17. Establishing the cause
Small intestinal biopsy
Normal histology with well formed
villous pattern almost excludes diffuse
small intestinal mucosal disease
Biopsy is usually abnormal in
Celiac
disease
Tropical sprue
Whipple’s disease
18.
19.
20. Establishing the cause
Small intestinal radiography is usually diagnostic
in diseases with a gross anatomical abnormality as
jejunal diverticulosis precipitating bacterial
overgrowth, diffuse Crohn’s disease, and lymphoma.
Hydrogen breath test
Pancreatic imaging
Plain X-rays, USG, CT scan, and ERCP
21.
22. Usual causes of generalized
malabsorption
Post infectious malabsorption / tropical sprue
Celiac disease (Non-tropical sprue)
Bacterial overgrowth
Diverticulosis, blind loops, hypo motile states
Short gut syndrome
Immunodeficiency
Pancreatic diseases
23. Ms. Sakina had a normal Plain X-ray of abdomen.
Her abdominal USG was also normal.
A small bowel enema was done and it did not reveal
any abnormality.
Hydrogen breath test after 50 gm lactose was also
unremarkable.
24. Duodenal biopsy from D2 revealed a blunting and
shortening of villous pattern and infiltration of lamina
propria with plasma cells and lymphocytes.
Antibodies against gliadin, reticulin, and
endomysium were present.
Diagnosis?
COELIAC DISEASE
25. Ms. Sakina was treated with a short course of steroids
and was advised strict gluten free diet. Her symptoms
improved dramatically and steroids were withdrawn,
after tapering, in six weeks
Four months later, the duodenal biopsy was found to
be normal.
26. Alternative scenarios
If the abdominal USG shows calcification in the
region of pancreas and D-xylose test is abnormal?
Ms. Sakina has a past H/O Hodgkin’s Lymphoma and
H/O abdominal radiation?
Duodenal biopsy shows villous atrophy but antibody
screen is negative
27. Alternative scenarios
Small bowel enema shows jejunal diverticulosis and
hydrogen breath test is positive?
Small bowel enema is normal but hydrogen breath
test is positive?
Ms. Sakina has normal lab tests, USG abdomen, and
Barium followthrough?
28. Take home message
In a case of chronic diarrhea first establish the
presence of malabsorption and if present the
work up the cause of malabsorption