Intestinal Malabsorption Syndromes😍

Intestinal Malabsorption Syndromes

• Hallmark: 
• Steatorrhea (fat malabsorption).
• Stools: Bulky, frothy, foul-smelling, difficult to flush.

Whipple's Disease:

• Gram-positive bacteria Tropheryma whipplei → Multi-system disorder

• A/w HLA-B27 positive and in middle-aged men.

• Mnemonic: Whipple → Whip cheyyum → Proper (Lamina Propria) aytt Pass (PAS) cheythillel

Features:

• Pass (PAS positive) the CAN (Carditis, arthritis, neurlogical manifestation) with foamy (macrophages) whipped (Whipplei) cream

• GI symptoms
• Malabsorption due to 
• diarrhoea, weight loss, steatorrhea, colicky abdominal pain

• Systemic symptoms
• chronic cough, fever, sweats, lymphadenopathy
• skin hyperpigmentation

• Cardiac involvement
• pleurisy, pericarditis, endocarditis

• CNS involvement
• ophthalmoplegia,
• reversible dementia, seizures,
• ataxia, facial myoclonus.

Jejunal biopsy

• Stunted Villi

• deposition of macrophages in lamina propria 

• Periodic acid-Schiff (PAS) granules [Diagnostic]

Treatmnet

• Induction - ceftriaxone

• Maintenance - cotrimoxazole

Foam cells (macrophages ingested organism).

• Differentiate from TB:
• Whipplei → PAS-positive Foam cells → negative for ZN stain negative
• TB → ZN positive Foam cells

Celiac Disease (Gluten-Sensitive Enteropathy)

Case Scenario: A 3-year-old girl presents with recurrent episodes of loose stools, failure to thrive, short stature and anemia. Duodenal biopsy reveals villous atrophy. What is the probable diagnosis?

• Also known as Gluten Sensitive Enteropathy

• A T-Cell mediated autoimmune disorder
• intolerance to wheat/rye/barley containing gluten occurs.

• Trigger Foods:
• BROW meal:
• Gluten-containing cereals: Barley, Rye, Oat, Wheat.

• Problematic Molecule: 
• Alpha-gliadin (within gluten).

• Genetic Association: 
• HLA DQ2 and DQ8 polymorphisms.

Pathogenesis:

• Involves CD4 T cells and CD8 T cells.

• B cells form antibodies.
• IgA type Antibodies
• Anti-gliadin.
• Anti-tissue transglutaminase (TTG).
• Anti-endomysial.

Affected Part:

• Primarily duodenum.
• 2nd part of the duodenum or proximal jejunum.
• Mnemonic: DD Disease - Duodenum affected, causing Diarrhea

Features

• Symptoms starting after weaning

• Failure to thrive (important in children)

• Intermittent diarrhea + abdominal bloating + fatigue

Clinical Findings:

• Diarrhea.

• Iron deficiency anemia (duodenum)
• Iron deficiency anemia > folate deficiency > vitamin B12 deficiency

• Short stature (Failure to thrive)

Associations

• Dermatitis herpetiformis (IgA antibodies associated with both).
• Subepidermal → Epidermal tissue transglutaminase → Itchy, excoriated papules → gluten-sensitive enteropathy → DQ2 and BA → Mainly extensor surfaces → Papillary tip microabscesses → Papillary tip immunofluorescence → Rx: Dapsone → Iodine & BROW aggravates condition → Oats is safest → Allowed: Maize, Rice

• Osteoporosis

• Type 1 diabetes mellitus (T1DM):
• 5% of T1DM patients have celiac disease

• Cancer Risk: 
• Enteropathy-associated T-cell lymphoma (EATL).
• Mnemonic: "Eat"ing gluten leads to "EAT" lymphoma

Investigations

• Latest ESPGHAN
• (European Society for Ped. Gastroent. Hepatology & Nutrition) guidelines 2019.

• Screening
• Anti TTG antibodies (IgA) → Best
• > 10 times ULN and Total IgA Normal
• Anti endomysial antibody
• Most specific
• if positive: Confirmatory
• NO ROLE HLA, DQ2 and DQ8 in diagnosis
• < 10 times ULN and Total IgA Normal
• UGI endoscopy → Duodenal biopsy
• Negative
• Total IgA Low
• IgG based tests
• Normal
• Keep child under follow up
• Alpha-gliadin antibodies

Endoscopy and Jejunal/Duodenal Biopsy:

• confirm diagnosis

• Perform before starting gluten-free diet
• Restart gluten for at least 6 weeks before serology or biopsy

Microscopic Findings

• Marsh Classification
• Villus atrophy.
• Crypt hyperplasia.
• Increased intraepithelial lymphocytes (esp. CD8 T cells).

• HLA-DQ2 or DQ8:
• HLA testing useful for ruling out celiac disease

Treatment:

• Strict gluten-free diet 
• avoid BROW;
• can consume rice, maize

• Steroids for severe cases.

• Dapsone for dermatitis herpetiformis.

Causes of Flat Intestinal Mucosa

1. Celiac disease

2. Tropical sprue

3. Giardiasis

4. Bacterial overgrowth

5. HIV enteropathy

• All cause villous atrophy → malabsorption

Environmental Enteropathy (Tropical Sprue):

• Cause: Associated with E. coli.
• Mnemonic: Environmental for E.coli

• Affected Part: Total intestine (duodenum, ileum, jejunum).
• Mnemonic: Tropical sprue for Total intestine*

• Anemias:
• Iron deficiency anemia
• Megaloblastic anemia 

• Treatment: Antibiotics.

• No cancer risk.

Cryptosporidium:

• Parasite.

• Identified as dot-like organisms.

• Location: Along the brush border (outside cells).

Giardia lamblia:

• "grand old angry man of the intestine (duodenum)".

• M/c parasitic infection worldwide.

• M/c parasite in stool.

• Common in duodenum.

• Small infectivity dose.

Clinical Features:

• Classical malabsorption (duodenal involvement)

• Fat malabsorption (steatorrhea)
• Bulky, frothy, foul-smelling stool

• Vitamin B12, folic acid, protein deficiencies

Lab Diagnosis:

• Sample: 3-day consecutive stool sample.

• Microscopy: Cyst and trophozoite forms seen.

• Trophozoite:
• 2 nuclei.
• 4 pairs of flagella (8 total).
• Pear-shaped / tennis racket shape (front view)
• Sickle-shaped (side view)
• Falling leaf motility.
• Floats in the lumen.

• Cyst:
• 1-4 nuclei.





 

• String test (Entero-Test):
• String into duodenum for microscopy.
• Put string to catch dadaji in duodenum

Duodenal biopsy:

• Organisms hang in lumen.

• Appear sickle-shaped.

Treatment:

• Drug of choice: Metronidazole.

• Tinidazole: single 2g dose.

Intestinal Ulcers

Ulcer Type	Shape	Pathogen
TB ulcer	• Transverse (horizontal)	Mycobacterium tuberculosis
Typhoid ulcer	• Longitudinal • Like a tie is worn longitudinally	Salmonella typhi
Amoebic ulcer	• Flask shaped  • (classic, undermine mucosa)	Entamoeba histolytica