Give a notes including diagram, flowchart for malabsorption syndrome
malabsorption syndrome pathophysiology classification clinical features diagnosis treatment
malabsorption syndrome pathophysiology diagram
small intestine malabsorption villi absorption diagram celiac disease
Ganong's Review of Medical Physiology — "Various disease processes can impair absorption without a loss of intestinal length. The pattern of deficiencies that results is sometimes called the malabsorption syndrome."
┌─────────────────────────────────────────────────────────────┐
│ NORMAL DIGESTION & ABSORPTION │
│ │
│ LUMINAL PHASE MUCOSAL PHASE POST-MUCOSAL │
│ (Intraluminal) (Enterocyte) PHASE │
│ │
│ • Gastric acid • Brush border • Lymphatics │
│ secretion enzymes • Portal vein │
│ • Pancreatic • Active/passive • Chylomicron │
│ enzymes transport formation │
│ • Bile salts • Enterocyte • Systemic │
│ • Emulsification uptake circulation │
└─────────────────────────────────────────────────────────────┘
┌────────────────────────────────────────────────────────────────────────┐
│ CAUSES OF MALABSORPTION SYNDROME │
├────────────────┬───────────────────────────┬───────────────────────────┤
│ LUMINAL PHASE │ MUCOSAL PHASE │ POST-MUCOSAL PHASE │
│ (Pre-mucosal) │ (Enterocyte) │ (Transport) │
├────────────────┼───────────────────────────┼───────────────────────────┤
│ Pancreatic │ Celiac disease │ Intestinal lymphangiectasia│
│ insufficiency │ (villous atrophy) │ │
│ │ │ Lymphoma │
│ Chronic │ Tropical sprue │ │
│ pancreatitis │ │ Whipple's disease │
│ │ Crohn's disease │ │
│ Cystic fibrosis│ │ Abetalipoproteinemia │
│ │ Infectious enteritis │ (chylomicron defect) │
│ Zollinger- │ (Giardia, TB, │ │
│ Ellison syn. │ Cryptosporidium) │ Right heart failure │
│ (acid inact. │ │ (raised venous pressure) │
│ pancr. enzyme) │ Short bowel syndrome │ │
│ │ │ │
│ Bile salt │ Radiation enteritis │ │
│ deficiency │ │ │
│ (cholestasis, │ Autoimmune enteropathy │ │
│ ileal resec.) │ │ │
│ │ SIBO (mucosal damage + │ │
│ SIBO (bile │ bile salt deconjugation) │ │
│ salt deconj.) │ │ │
│ │ Eosinophilic │ │
│ Post-gastrect. │ gastroenteritis │ │
│ (rapid transit)│ │ │
│ │ HIV enteropathy │ │
│ Drugs │ │ │
│ (cholestyramine│ Microvillus inclusion │ │
│ neomycin) │ disease (neonatal) │ │
└────────────────┴───────────────────────────┴───────────────────────────┘
| Category | Examples |
|---|---|
| Infections (Bacteria) | M. avium intracellulare, M. tuberculosis |
| Protozoa | Giardia lamblia, Cryptosporidium, Cyclospora, Cystoisospora |
| Helminths | Strongyloides, Capillaria philippinensis |
| Mucosal diseases | Celiac disease, Tropical sprue, HIV enteropathy |
| Pancreatic insufficiency | Tropical pancreatitis, alcoholic pancreatitis |
| Lymphatic obstruction | Intestinal lymphangiectasia |
| Specific transport defects | Abetalipoproteinemia, glucose-galactose malabsorption |
┌─────────────────────────────────────────────────────────────────┐
│ MALABSORPTION PATHOPHYSIOLOGY │
└─────────────────────────────────────────────────────────────────┘
│
┌───────────────────┼──────────────────┐
▼ ▼ ▼
LUMINAL DEFECT MUCOSAL DEFECT LYMPHATIC/
VASCULAR DEFECT
│ │ │
↓ Digestion ↓ Absorption ↓ Transport
│ │ │
└───────────────────┴──────────────────┘
│
▼
┌───────────────────────────────┐
│ IMPAIRED NUTRIENT UPTAKE │
└───────────────────────────────┘
│
┌───────────────────┴──────────────────┐
▼ ▼
FAT MALABSORPTION CARBOHYDRATE &
• Steatorrhea PROTEIN MALABS.
• Fatty acid → colon • Osmotic diarrhea
• ↓ Fat-soluble vitamins • Fermentation → gas
(A, D, E, K) • Muscle wasting
• Oxalate kidney stones • Hypoproteinemia
• Bile acid loss → diarrhea • Edema
│ │
└───────────────────┬──────────────────┘
▼
┌──────────────────────────────────────┐
│ MICRONUTRIENT / VITAMIN DEFICIENCIES│
│ Iron → anemia │
│ B12/Folate → megaloblastic anemia │
│ Vitamin D/Ca²⁺ → osteomalacia │
│ Vitamin K → bleeding tendency │
│ Zinc → dermatitis │
└──────────────────────────────────────┘
GLUTEN ingestion
│
▼
Gluten peptides cross mucosa (increased permeability)
│
▼
Tissue transglutaminase (tTG) modifies gliadin peptides
│
▼
HLA-DQ2 / HLA-DQ8 antigen presentation to CD4+ T cells
│
▼
T cell-mediated immune response → cytokine release
│
▼
Intraepithelial lymphocytosis → Crypt hyperplasia → Villous atrophy
│
▼
↓ Absorptive surface area → MALABSORPTION

| Marsh Stage | Histology |
|---|---|
| 0 | Normal villi, no lymphocytes |
| I | ↑ Intraepithelial lymphocytes (>25/100 enterocytes) |
| II | + Crypt hyperplasia |
| IIIa | Partial villous atrophy |
| IIIb | Subtotal villous atrophy |
| IIIc | Total villous atrophy (flat mucosa) |
MALABSORPTION SYNDROME
│
┌──────────────────┼──────────────────┐
▼ ▼ ▼
GI SYMPTOMS NUTRITIONAL SYSTEMIC
DEFICIENCIES
• Diarrhea • Weight loss • Fatigue/weakness
• Steatorrhea • Muscle wasting • Growth failure
(pale, bulky, • Edema (children)
oily, floating, (hypoalbuminemia) • Peripheral edema
offensive) • Anemia • Tetany
• Abdominal (Fe, B12, folate) (↓ Ca²⁺, Mg²⁺)
bloating/pain • Bone pain / • Peripheral
• Flatulence fractures neuropathy
• Nausea (Vit D/Ca²⁺) (B12 deficiency)
• Borborygmi • Bleeding • Night blindness
(Vit K ↓) (Vit A ↓)
• Dermatitis • Glossitis
(Zinc, Vit A) • Angular stomatitis
• Amenorrhoea • Koilonychia
• Infertility • Cheilosis
SUSPECTED MALABSORPTION
(Chronic diarrhea + weight loss + nutritional deficiencies)
│
▼
┌─────────────────────────────────────────┐
│ STEP 1: CONFIRM MALABSORPTION │
│ • Stool fat test (72-hr fecal fat) │
│ Gold standard: >7 g/day on 100 g │
│ fat/day diet │
│ • Sudan stain (qualitative fat) │
│ • Serum albumin, prealbumin │
│ • CBC (anemia pattern) │
└─────────────────────────────────────────┘
│
▼ Fecal fat POSITIVE
┌─────────────────────────────────────────┐
│ STEP 2: LOCALIZE THE DEFECT │
│ │
│ Pancreatic? Mucosal? │
│ • CT/MRCP • Duodenal biopsy │
│ • Fecal elastase • tTG IgA + IgA │
│ • Secretin test (celiac) │
│ • Small bowel MRI/ │
│ SIBO? enterography │
│ • H₂ breath test │
│ (glucose/lactulose) │
│ • Jejunal aspirate │
│ culture (>10⁵/mL) │
│ │
│ Bile acid deficiency? │
│ • SeHCAT test │
│ • Serum C4, FGF19 │
└─────────────────────────────────────────┘
│
▼
┌─────────────────────────────────────────┐
│ STEP 3: SPECIFIC NUTRIENT LEVELS │
│ • Serum B12, folate, iron │
│ • Serum Ca²⁺, Vit D, Vit A, Vit K │
│ • Serum zinc, magnesium │
│ • PT/INR (Vit K) │
└─────────────────────────────────────────┘
│
▼
┌─────────────────────────────────────────┐
│ STEP 4: SPECIFIC TESTS │
│ • Stool O&P, PCR (Giardia) │
│ • Hydrogen breath test (lactose, │
│ fructose malabsorption) │
│ • Schilling test (B12 absorption) │
│ • VCE / balloon enteroscopy │
│ (if diagnosis elusive) │
└─────────────────────────────────────────┘
| Test | What it Detects | Normal Value |
|---|---|---|
| 72-hr fecal fat | Overall fat malabsorption | <7 g/day |
| Fecal elastase | Pancreatic exocrine insufficiency | >200 μg/g |
| H₂ breath test | SIBO, lactose/fructose malabsorption | <20 ppm rise |
| tTG IgA + total IgA | Celiac disease | Negative |
| D-xylose test | Mucosal absorptive capacity | >20 mg/dL at 1 hr |
| Duodenal biopsy | Villous atrophy (celiac, Whipple's) | Normal villi |
| Jejunal aspirate culture | SIBO | <10⁵ organisms/mL |
| Serum B12 / folate | Vitamin deficiency | B12 >200 pg/mL |
| SeHCAT | Bile acid malabsorption | Retention >15% |

MALABSORPTION — TREATMENT
│
├──────────────────────────────────────────────┐
▼ ▼
TREAT UNDERLYING CAUSE NUTRITIONAL SUPPORT
│
┌────┴─────────────────────────────────────────┐
│ │
▼ ▼
MUCOSAL DISEASE PANCREATIC INSUFFICIENCY
• Celiac disease: • Pancreatic enzyme
Gluten-free diet replacement therapy
(wheat, rye, (PERT) with meals
barley excluded) • PPI if acid inactivating
• Crohn's disease: enzymes
Steroids, biologics • Fat-soluble vitamin
• Tropical sprue: supplementation
Tetracycline +
folic acid BILE ACID DEFICIENCY
• Whipple's disease: • Ursodeoxycholic acid
Ceftriaxone → • Fat-soluble vitamins
TMP-SMX (long term)
SIBO
• Giardiasis: • Antibiotics
Metronidazole (rifaximin, metronidazole,
tetracycline)
• Treat predisposing
structural cause
▼
NUTRITIONAL SUPPORT
• Oral supplementation:
- Fat-soluble vitamins (A, D, E, K) as water-soluble derivatives
- Iron, B12 (parenteral if ileal disease), folate
- Calcium, magnesium, zinc
• Medium-chain triglycerides (MCT) if lymphatic obstruction
(bypasses lymphatics — directly to portal vein)
• Enteral nutrition if severe
• Parenteral nutrition (TPN) in short bowel syndrome
• Small bowel transplantation (for refractory short gut)
BILE ACID DIARRHEA:
• Cholestyramine (binds bile acids → prevents secretory
action on colonocytes)
| Condition | Key Feature | Specific Test | Treatment |
|---|---|---|---|
| Celiac disease | Villous atrophy, HLA-DQ2/DQ8 | tTG IgA, duodenal biopsy | Gluten-free diet |
| Tropical sprue | Common in tropics, responds to Abx | Jejunal biopsy, folate levels | Tetracycline + folate |
| Whipple's disease | T. whipplei, PAS+ macrophages | Small bowel biopsy | Ceftriaxone → TMP-SMX |
| Pancreatic insufficiency | Steatorrhea, no villous atrophy | Fecal elastase, CT pancreas | PERT |
| SIBO | H₂ breath test, structural abnormality | Breath test / aspirate | Rifaximin |
| Short bowel syndrome | Post-resection (>50% removed) | Clinical | TPN, transplant |
| Abetalipoproteinemia | ↓ Chylomicrons, acanthocytes | Blood smear, serum lipids | Fat-soluble vitamins |
| Lymphangiectasia | Protein-losing enteropathy | Biopsy, albumin | MCT diet, octreotide |
Malabsorption Syndrome
│
├── Megaloblastic anemia (B12/folate)
├── Iron deficiency anemia
├── Osteomalacia / osteoporosis (Vit D/Ca²⁺)
├── Bleeding diathesis (Vit K)
├── Peripheral neuropathy (B12)
├── Night blindness (Vit A)
├── Growth retardation (children)
├── Infertility / amenorrhoea
├── Hypoalbuminaemia → edema
├── Oxalate nephrolithiasis (fat malabs. → ↑ oxalate absorption)
├── Secondary immunodeficiency
└── Enteropathy-associated T-cell lymphoma (EATL)
(refractory celiac disease)