A 28 Year Old Man Presents With Six Month History of Weight Loss, Abdominal discomfort and Diarrhea.

A 28-year-old male presented with a six-month history of weight loss of 8 kg, generalized abdominal discomfort and diarrhea. On examination he was pale and slim, but there were no other significant abnormalities.
Investigations are given below:

• Hb 9 g/dl
• WCC 4.6 109/l
• Platelets 200 109/l
• MCV 76 fl
• ESR 38 mm/h
• Sodium 141 mmol/l
• Potassium 4 mmol/l
• Urea 3 mmol/l
• Creatinine 68 mol/l
• Corrected calcium 2.02 mmol/l
• phosphate 0.8 mmol/l
• Alkaline phosphatase 190 iu/l
• Albumin 38 g/l
• IgA <0.1 g/l (NR 0.8–4.0 g/l)
• IgG 9.0 g/l (NR 7.0–18.0 g/l)
• IgM 0.6 g/l (NR 0.4–2.5 g/l)
• IgA anti-endomyosial antibody:  Absent 

What is the diagnosis?

a. Crohn’s disease.

b. Intestinal lymphangiectasia.

c. Coeliac disease.

d. Small bowel lymphoma.

e. Hypogammaglobulinaemia

Answer: c. Coeliac disease.

Discussion: Diarrhoea, weight loss, abdominal discomfort and isolated IgA deficiency are highly suggestive of coeliac disease. Anti-endomyosial antibodies are highly sensitive and specific for the diagnosis of coeliac disease. Antiendomyosial antibodies are IgA antibodies, therefore they will not be detected in patients with low IgA antibody levels. Since coeliac disease is also associated with IgA deficiency it is important to be aware of serum IgA levels before interpreting anti-endomyosial antibodies in patients with malabsorption