Pathology
Pathology/C/37
Malabsorption
吸収不良症候群
- タグ
- High-yield / ポイント
- Malabsorption = defective absorption of fats, vitamins, proteins, carbohydrates, electrolytes, minerals and water
- Most common presentation: chronic diarrhea; hallmark = steatorrhea (fatty diarrhea)
3 normal digestive functions that can be disturbed:
- Intraluminal digestion: enzymatic breakdown of proteins, carbohydrates, fats
- Mucosal absorption: absorption + transport of water, electrolytes, nutrients into the cell
- Nutrient delivery: transport from intestinal cells into the lymphatics
A) Defects in Intraluminal Digestion
- Osmotic diarrhea: excessive osmotic forces by luminal solutes; decreases with fasting
- Steatorrhea: excess undigested fat in stool; caused by inadequate pancreatic lipases or inadequate bile solubilization of fat
- Most common causes: pancreatic insufficiency (chronic alcoholism) and Crohn’s disease
B) Defects of Mucosal Absorption
Lactose Intolerance
- Deficiency of lactase enzyme (brush-border of enterocytes) → inability to digest lactose
- Inherited form (rare): milk intolerance in infants → diarrhea, weight loss, failure to thrive
- Acquired form (common in adults): should avoid milk products
A-beta-lipoproteinemia (Apolipoprotein-B deficiency)
- Apolipoprotein-B required for assembly of chylomicrons
- Deficiency → no chylomicrons → mucosal cells cannot export lipids (lipids stack up in enterocytes)
- Consequences: diarrhea, steatorrhea, systemic lipid membrane abnormalities
Celiac Disease (Gluten-sensitive enteropathy)
- Immunological sensitivity to gluten (wheat/related grains), especially the antigen gliadin
- Gliadin presented by APCs to CD4+ T-cells → immune response → CD8+ T-cells destroy intestinal epithelial cells → loss of villi → ↓ absorptive surface area
- Non-infectious cause of malabsorption from reduced small intestine surface
- Long-term risk: enteropathy-associated T-cell lymphoma or adenocarcinoma of small bowels
Tropical Sprue & Whipple Disease
- Associated with intestinal infections
- Intestinal mucosa contains many PAS-positive macrophages packed with rod-shaped bacilli
- Clinical: steatorrhea, weight loss, abdominal distention, anorexia
C) Clinical Features
General symptoms: weight loss, anorexia, abdominal distention, steatorrhea
Complications by system:
| System | Complication | Cause |
|---|---|---|
| Hematopoietic | Anemia | Iron, folate, or B12 deficiency |
| Hematopoietic | Bleeding | Vitamin K deficiency |
| Musculoskeletal | Osteopenia + tetany | Ca²⁺, Mg²⁺, vitamin D deficiency |
| Endocrine | Amenorrhea, impotence, infertility | Generalized malnutrition |
| Endocrine | Hyperparathyroidism | Protracted Ca²⁺ + vitamin K deficiency |
| Skin | Purpura, petechia | Vitamin K deficiency |
| Skin | Dermatitis, hyperkeratosis | Vitamin A, zinc, fatty acids, niacin deficiency |
| Nervous system | Peripheral neuropathy | Vitamin A + B12 deficiency |
💡 High-yield: Hallmark = steatorrhea. Celiac disease = gliadin antigen → CD8+ T-cells destroy villi; risk for T-cell lymphoma + small bowel ADC. Whipple = PAS+ macrophages with rod-shaped bacilli. A-beta-lipoproteinemia = no chylomicrons; lipids stack in enterocytes. Complications: anemia (Fe/B12/folate), bleeding (vit K), osteopenia (Ca/D), peripheral neuropathy (A/B12).