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Classify malabsorption syndromes. Differentiate coeliac disease from tropical sprue.

Pathology · 2nd Professional — Para-Clinical

Definition

Malabsorption is defective absorption of one or more dietary constituents, resulting from impaired digestion (maldigestion), impaired mucosal absorption, or impaired transport from the gut.

Classification BY Mechanism

MechanismCauses
Defective intraluminal digestionChronic pancreatitis, cystic fibrosis, pancreatic carcinoma; bile salt deficiency from obstructive jaundice, ileal resection or bacterial overgrowth
Primary mucosal defectCoeliac disease, tropical sprue, Crohn disease, Whipple disease, lactase deficiency, abetalipoproteinaemia
Reduced absorptive surfaceExtensive resection (short bowel syndrome), gastrojejunostomy
Infection and infestationGiardiasis, intestinal tuberculosis, strongyloidiasis, HIV enteropathy
Lymphatic obstructionIntestinal lymphangiectasia, lymphoma, tuberculosis of mesenteric nodes — causes loss of fat and protein
Bacterial overgrowthBlind loops, strictures, diverticula, hypomotility — bacteria deconjugate bile salts and consume B12

Coeliac Disease and Tropical Sprue

FeatureCoeliac diseaseTropical sprue
CauseImmune reaction to gliadin in wheat, barley and ryeUnknown; probably an infective agent; follows residence in the tropics
GeneticsHLA-DQ2 (95%) and DQ8None
Site affectedProximal small bowel — duodenum and jejunumThe whole small bowel, including the ileum
HistologyVillous atrophy, crypt hyperplasia, increased intraepithelial lymphocytes; Marsh gradingSimilar but usually less severe
AntibodiesAnti-tissue transglutaminase, anti-endomysial (IgA)Absent
DeficienciesIron and folate (proximal)Folate and B12 (ileal involvement)
TreatmentLifelong gluten-free dietTetracycline and folic acid for 3–6 months
AssociationsDermatitis herpetiformis; type 1 diabetes; thyroid disease; enteropathy-associated T cell lymphoma; small bowel adenocarcinomaNone

CLINICAL PEARL

The site of involvement predicts the deficiency, and that distinguishes the two. Coeliac disease attacks the proximal bowel, where iron and folate are absorbed, so B12 is usually spared. Tropical sprue involves the ileum as well, so B12 is also deficient. Reasoning from anatomy answers the question without memorising it.

Clinical Features

  • Steatorrhoea — bulky, pale, greasy, offensive stools that float and are difficult to flush
  • Chronic diarrhoea, abdominal distension, flatulence, weight loss despite adequate intake; failure to thrive in children
  • Consequences of specific deficiencies — anaemia (iron, folate, B12); bone pain and tetany (calcium and vitamin D); bleeding (vitamin K); night blindness (vitamin A); oedema (protein); glossitis and cheilosis (B vitamins); neuropathy

Investigation and Applied Aspects

  • Confirm malabsorption — faecal fat estimation (over 7 g a day on a 100 g fat diet); D-xylose test distinguishes mucosal disease from pancreatic causes
  • Small bowel biopsy is the key investigation for mucosal disease, taken endoscopically from the second part of the duodenum
  • Serology for coeliac disease — anti-tissue transglutaminase, with total IgA measured alongside, since IgA deficiency gives false negatives
  • Test for giardia and for intestinal tuberculosis in India, both of which are common and treatable causes
  • Coeliac disease must be diagnosed before starting a gluten-free diet, since both the serology and the histology normalise on treatment and the opportunity is lost
  • Lactose intolerance is very common in Indian and East Asian adults, is a normal genetic state rather than a disease, and requires only dietary adjustment

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