Celiac disease

Today we discussed malabsorption, and one of its causes, celiac disease. A few key points:

Clinical features of malabsorption:
Chronic diarrhea (esp. steatorrhea)
Weight loss despite adequate intake
Deficiency of fat-soluble vitamins: (ADEK); vit D deficiency may lead to hypocalcemia, vit K deficiency may lead to high INR
Hypocalcemia
B12 and folate deficiency
Iron deficiency
Hypoalbuminemia

Celiac disease is an autoimmune disease involving the small bowel, precipitated by intake of gluten. This autoimmune reaction leads to chronic small bowel inflammation.

Long term complications include small bowel adenocarcinoma and small bowel T-cell lymphoma

Celiac was traditionally thought of as a malabsorption syndrome of children, but it is increasingly recognized in adults, even the elderly. A common way patients come to clinical attention is iron deficiency anemia that does not respond to oral iron supplementation (because the etiology is malobsorption).

Diagnosis:

Gold standard for diagnosis is small bowel biopsy showing villous atrophy.

Serologic tests are also available that have different performance characteristics:
Endomesial IgA antibodies are near 100% specific (remember to check IgA levels, as many patients with celiac disease have low IgA levels)
Tissue transglutaminase antibodies have sensitivity of over 90%, and this is the screening test
Gliadin antibodes are less sensitive and specific (~80% Sn and Sp)

Therapy:
Gluten-free diet
Treat nutritional deficiencies
Celiac disease is associated with hyposplenism; patients should receive the pneumococcal vaccine
Bone loss is common; patients should have a DEXA scan and treatment as appropriate

Monitoring:
Symptoms should improve with gluten-free diet
Serology can be used to monitor response; antibody titers correspond to degree of inflammation.
Non-response should raise suspicion of small bowel lymphoma or non-adherence to gluten-free diet

Link:

Click here for a NEJM review on celiac disease