1. Malabsorption Syndromes
Topic Review September, 2023
Presenter: Hamisi Mkindi-Reseident,PGY2-Semester 4
Supervisor: Dr.Hyasinta Jaka (MD,Mmed,MHPE,Ph.D)
Mwanza College of Health and Allied Sciences / ZHRC-Lake zone
& Catholic University of Health and Allied Sciences -Bugando
2. Pathophysiology
Digestion and Absorption of Nutrients
Digestion of food Absorption of digested
food
Presence of digestive
enzymes and bile in the
intestinal lumen
Availability of absorptive
mucosal surface
3. Pathophysiology
Presence of digestive
enzymes and bile in the
intestinal lumen
Availability of absorptive
mucosal surface
Digestion and Absorption of Nutrients
Maldigestion Malabsorption
Defects in digestion of
food
Defects in absorption of
digested food
Clinically, both are described as “Malabsorption”
4. Clinical Presentation
Malabsorption may involve:
– a broad range of nutrients i.e. panmalabsorption.
– only a single nutrient or a class of nutrients i.e.
specific malabsorption.
Symptoms and signs of the disease depend
on the deficiency of the nutrient(s) that is
malabsorbed.
5. Steatorrhea: bulky,
floating, malodorous
stool-difficult to flush.
Weight loss.
Flatulence.
Weakness and
fatigue.
Paresthesias.
Tetany.
Diffuse abdominal
pain.
Symptoms of anemia.
Bone aches.
Abnormal bruising.
Milk intolerance.
Night blindness.
Amenorrhea &
infertility.
Symptoms
7. Blood Screening Tests
– Hemoglobin: low.
– Serum levels of calcium, albumin, iron, vitamin
B12, folate, carotene, cholesterol:low.
– Prothrombin time (PT): prolonged.
Quantitative fecal fat:
- Patient should be on daily diet containing 80-100
gms of fat.
- Fecal fat estimated on 72 H collection.
- 6 grams or more of fat/day is abnormal.
Investigations
- May be due to: - Pancreatic
- Small intestinal
- Hepatobiliary disease
8. Investigations
D-xylose Absorption Test:
- Normally, afer oral digestion of 25 gm.
Xylose, at least 1/5 the amount (5 gm.)
passes in urine.
- If > 5gm. passes in urine: Maldigestion.
- If < 5gm. passes in urine: Malabsorption.
Small bowel biopsy
Tests for pancreatic structure and
function
10. Malabsorption Disorders - Investigations
Malabsorption suspected clinically
Quantitative Fecal Fat
D-Xylose absorption test
Disorders of the
intestinal mucosa
Positive Negative
Disorders of
digestion
11. Malabsorption Disorders - Classification
Disorders of transport in the intestinal mucosa
Generalized mucosal abnormalities:
– Celiac disease
– Tropical sprue
– Whipple’s disease
– Crohn’s disease
– Lymphoma
– Radiation enteritis
12. Family history positive in about 25% cases.
Characterized by an abnormal mucosa in the small intestine.
Induced by a component of the gluten protein (i.e. gliadin) of
wheat, barley, and some oats.
Local immune responses to the gluten component damage the
mucosa causing partial or subtotal villous atrophy.
Antibodies to gliadin are found in the peripheral blood.
Celiac Disease
13. Celiac Disease – Clinical Presentation
The disease usually presents in children under 2
years of age and within 6 months of starting cereals.
The child ceases to thrive and becomes irritable.
Less commonly the disorder manifests in adult life
and occasionally even in the elderly.
There is often association with other auto-immune
diseases like type 1 diabetes, auto-immune thyroid
disease, vitiligo, etc.
14. Celiac Disease – Clinical Presentation
Symptoms range from
mild anemia and
fatigue to florid
malabsorptive state
developing rapidly
over a period of
weeks.
Diarrhea/steatorrhea.
Weight loss.
Anemia.
Peripheral neuropathy.
Vitamin deficiency.
Edema.
Bone pain.
Tetany.
Clubbing.
Glossitis & stomatitis.
Amenorrhea & infertility.
15. Celiac Disease - Investigations
An abnormal small bowel biopsy and a
good clinical response to gluten free diet
are sufficient for the diagnosis.
Biopsy of the small bowel shows a
reduced height of the epithelial cells,
increased number of plasma cells in the
lamina propria and intraepithelial
lymphocytes.
16. Celiac Disease - Investigations
Normal small bowel Celiac Disease
17. Endomysial (EMA) and Tissue transglutaminase (t-TG)
antibodies (IgA for both) are highly sensitivite and specific for
the diagnosis of untreated celiac disease.
These antibodies can also be used as screening tests.
In the presence of a typical clinical picture and the presence of
these antibodies, a confirmatory small bowel biopsy may not
always be required.
Anti-reticulin antibodies (ARA) are also very sensitive but not
so specific, as they are seen in other gastrointestinal
conditions (e.g. Crohn’s disease).
Anti-gliadin antibodies (AGA) are less sensitive.
Celiac Disease - Investigations
18. Dermatitis herpetiform: itchy red papules on the extensor
surface of the body.
Celiac Disease - Complications
19. Lymphoma and carcinoma:
– T cell Lymphoma of the small intestine is a
recognized complication of celiac disease.
– There is also a higher risk of small bowel
carcinoma.
Ulcerative jejuno-ileitis:
– Patients develop multiple ulcers in the intestine
which may bleed or perforate.
Celiac Disease - Complications
20. Celiac Disease - Management
A gluten free diet must be taken indefinitely (this requires exclusion of
wheat, barley and oats and imposes severe restrictions which must be
fully explained to the patient).
Rice and corn based diets are allowed.
Mineral and vitamin supplements may be
required, especially in the beginning.
The skin lesions of dermatitis herpetiformis
improve with gluten free diet, but sometimes
dapsone may be needed.
Dietary adherence can be monitored by serial
tests for EMA.
A repeat intestinal biopsy should be performed
if clinical progress is suboptimal.
21. Tropical Sprue
Malabsorption due to small intestinal disease in a
patient in or from the tropics.
There has to be an absence of other intestinal
disease or parasites.
Its manifestations resemble those of celiac disease.
22. Tropical Sprue
The prevalence of tropical sprue is in certain well
defined tropical countries and localities such as West
Indies, Asia, Southern India, Sri Lanka, Malaysia and
Indonesia.
Its epidemiological pattern, including occasional
epidemics, suggests that an infective agent or agents
may be involved.
It is thought that this agent may be toxigenic E. coli
The small bowel histological changes closely
resemble Celiac disease, although partial villous
atrophy rather than subtotal villous is the usual
lesion.
23. Tropical Sprue – Clinical Features
Diarrhea
Abdominal distention
Anorexia
Fatigue
Weight loss
Edema
Glossitis & stomatitis
Anemia
In visitors to the tropics,
the onset of diarrhea
may be sudden and
accompanied by fever.
Remissions and
relapses may occur.
24. Dehydration and electrolyte deficiencies must be
corrected in severe diarrhea.
Tetracycline 1 g daily in divided doses for 28 days.
Folic acid and Vitamin B12 supplementation are given
as this relieves folate deficiency and improves
absorption.
The small bowel mucosa soon returns to normal.
Tropical Sprue – Management
25. Tropical Sprue – Management
Before treatment After treatment
Tropical Sprue: Small Bowel biopsy before and after antibiotic treatment
26. Due to exocrine pancreatic insufficiency.
Common causes are:
– Chronic pancreatitis.
– Cystic fibrosis.
– Carcinoma of pancreas.
Steatorrhea with Fecal fat > 7 g/ 24 hrs.
Management is with exogenous pancreatic enzyme
supplementation.
Pancreatic Insufficiency
27. Deficiency of enzyme Lactase in the brush border.
Lactose cannot be hydrolyzed and passes into the
colon where it is converted to short chain fatty acids,
H2 and CO2 which cause discomfort and diarrhea.
Patients complain of colic, abdominal distention,
increased flatus and sometimes diarrhea after
ingesting milk or milk products.
Lactose Intolerance
28. In primary lactase deficiency, the small bowel biopsy
is normal.
Secondary lactase deficiency can occur in small
bowel diseases like celiac disease, tropical sprue and
Crohn’s disease.
A lactose free or lactose restricted diet is
recommended depending on the severity of
symptoms.
Lactose Intolerance
29. Also known as:
– Contaminated bowel syndrome.
– Blind loop syndrome.
– Small intestine stasis syndrome.
It is an intestinal abnormality associated with
bacterial overgrowth in the small intestine and
causing steatorrhea and Vitamin B12 malabsorption.
These abnormalities improve with administration of
oral broad spectrum antibiotics.
Bacterial Overgrowth Syndrome
30. The bacterial overgrowth syndrome is caused by:
– Conditions that impair normal physiological
mechanisms controlling bacterial proliferation in the
intestine such as gastric acidity, intestinal motility and
antibodies to the bacteria in the intestinal juice.
– Structural abnormalities which deliver colonic bacteria
to the small intestine (fistulas), or which provide a
secluded haven away from the main peristaltic stream
(blind loops, diverticula etc).
Bacterial Overgrowth Syndrome
31. Bacterial Overgrowth Syndrome - Mechanism
Bacterial deconjugation of bile acids limiting micelle
formation and fat malabsorption.
Mucosal damage from bacterial toxins and toxin
effects of free bile acids leads to malabsorption of
fats, carbohydrates and proteins.
The bacteria also compete for nutrients like Vitamin
B12 leading to malabsorption.
32. Bacterial Overgrowth Syndrome - Clinical Features
Diarrhea and steatorrhea
Anemia because of Vitamin B12 deficiency
Weight loss
Muscle loss
Symptoms from the underlying intestinal lesions
35. Antibiotic therapy for 1 – 2 weeks:
– Tetracycline
– Amoxicillin/clavulinic acid
– Cephalosporins
– Metronidazole
– Ciprofloxacin
Patients may have to be retreated if symptoms recur
Correct any anatomical abnormality if possible
Bacterial Overgrowth Syndrome - Treatment
36. Malabsorption after gastric surgery
Malabsorption is multifactorial:
– Loss of stomach reservoir.
– Food reaches jejunum before bile is mixed with it.
– Stasis and bacterial overgrowth 2ry to vagotomy.
Billroth II surgery causes significant
malabsorption of Ca++ and Fe++.
There is diarrhea but usually steatorrhea is mild.
Treatment consists of antibiotics, antidiarrheals
and antiperistaltic agent.
38. Crohn’s Disease
Malabsorption occurs because of:
Extensive direct mucosal involvement.
Stricture formation and bacterial
overgrowth.
Fistula formation leading to bacterial
overgrowth.
Surgical resection of the small bowel.
39. Radiation can cause damage to:
– Small bowel :- Radiation enteritis
– Colon :- Radiation colitis
– Rectum :- Radiation proctitis
Radiation Enteritis
Radiation injury can be divided into:
– Acute phase – within days
• Mucosal injury – resolves as mucosa regenerates
– Chronic phase – after years
• Extensive direct mucosal involvement
• Stricture formation and bacterial overgrowth
• Fistula formation leading to bacterial overgrowth
40. Diagnosis
– Depends on careful history and typical radiological findings.
Management
– There is no specific treatment.
– Diarrhea in the acute phase is treated with antidiarrheals.
– Antibiotics may help if there is bacterial overgrowth.
– Dietary manipulations may improve nutrition.
Radiation Enteritis
41. Several types of lymphomas involve the
small bowel.
The most common are diffuse large cell
lymphoma and small non-cleaved lymphoma.
Malabsorption occurs because of bacterial
overgrowth and terminal ileal involvement.
Small Bowel Lymphoma
42. Small Bowel Resection
Resection of the small bowel, sometimes
extensive, may be necessary in Crohn’s
disease and bowel gangrene from vascular
insufficiency.
Ileal resection is associated with significant
consequences than jejunal resection.
There is severe diarrhea with fluid and
electrolyte loss.
43. Management
Parenteral fluids and nutrition may be necessary
initially.
Antidiarrheal medications as loperamide and
diphenoxylate are sometimes helpful.
Antisecretory medications (H2 Blockers and PPI) may
reduce gastric secretions.
Cholestyramine may help bind bile salts and prevent
their cathartic effects in the colon.
Some patients may require life long parenteral
nutrition.
Small Bowel Resection
44. An uncommon chronic bacterial infection with
multisystem involvement caused by a gram
positive organism Trophyrema whippelli.
There is infiltration of the intestinal mucosa
with foamy macrophages containing periodic
acid-Schiff (PAS) positive material.
Electron microscopy shows numerous
intracellular bacilliform bodies.
Whipple’s Disease
45. Whipple’s Disease
Low magnification view ( 2x) of the small bowel mucosa.
The lamina propria is expanded by aggregates and sheets
of foamy histiocytes.
High power view (40x)of the small bowel
mucosa demonstrated
sheets of foamy histiocytes in the lamina propria
PAS stain of the small bowel mucosa demonstrates numerous
round sickle shaped bacilli within histiocytes. The
appearance is characteristic of Whipples disease.
46. Antibiotic therapy provides an excellent
response in most patients:
- Penicillin
- Tetracycline
- Ampicillin
- Erythromycin
Whipple’s Disease – Management
- TMP-SMX - Chloramphenicol
Therapy must be taken for a long time
(months to years).
Relapses are common.
