Celiac disease

Vignette says a 34 year old female presents to the gastroenterology clinic with the history of chronic diarrhea, bloating, intermittent abdominal pain and unintentional weight loss over the duration of 6 months; She describes her stool as loose, foul smelling and difficult to flush; She also reports fatigue and generalized weakness; She was previously diagnosed iron deficiency anemia and takes iron supplements; She notes a recent onset of pruritic rash with vesicles on her elbows and knees; On physical examination, her BMI is 21 kg/m2; CBC shows microcytic anemia; Iron studies show ↓ferritin, ↑TIBC, ↓serum iron, ↓% saturation; Serology shows positive anti-tTG, anti endomysial and anti deamidated gliadin antibodies; Small bowel biopsy shows villous atrophy, intra epithelial lymphocytes and crypts hyperplasia; D-xylose test shows decreased D-xylose absorption; Diagnosis?

Diagnosis is Celiac disease.

Celiac disease is an autoimmune condition characterized by immune-driven inflammation of the small intestine in response to the ingestion of gluten diet (i.e. Intolerance to gluten diet).

Presents with chronic diarrhea, bloating, abdominal discomfort, dermatitis herpetiformis (pruritic vesicular rash on extensor surfaces), weight loss, vitamin and mineral deficiencies in adults; Associated with HLA-DQ2, HLA-DQ8.

Diagnosis:-

1. CBC shows microcytic anemia (as celiac disease is associated with IDA).

2. Iron studies show ↓ferritin, ↑TIBC, ↓serum iron, ↓% saturation.

3. Serology shows anti-tTG, anti endomysial and anti deamidated gliadin antibodies.

4. Biopsy shows villous atrophy, intra epithelial lymphocytes and crypts hyperplasia.

5. Stool examination with sudan stain detects fat in stools.

6. The D-xylose test is abnormal.

Management:-

1. Gluten free diet; Avoid food containing wheat, barley and rye.

2. Supplementation of vitamins and minerals to address deficiencies.

2. Dapsone is used to treat dermatitis herpetiformis.