B. HLA-DQ2 – Explanation

Coeliac disease
Coeliac disease is caused by sensitivity to the protein gluten. Repeated exposure leads to villous
atrophy which in turn causes malabsorption. Conditions associated with coeliac disease include
dermatitis herpetiformis (a vesicular, pruritic skin eruption) and autoimmune disorders (type 1
diabetes mellitus and autoimmune hepatitis).
It is strongly associated with HLA-DQ2 (95% of patients) and HLA-B8 (80%) as well as HLA-DR3
and HLA-DR7 In 2009 NICE issued guidelines on the investigation of coeliac disease. They suggest
that the following patients should be screened for coeliac disease:

Complications

• anaemia: iron, folate and vitamin B12 deficiency (folate deficiency is more common than vitamin
  B12 deficiency in coeliac disease)
• hyposplenism
• osteoporosis
• lactose intolerance

• enteropathy-associated T-cell lymphoma of small intestine
• subfertility, unfavourable pregnancy outcomes
• rare: oesophageal cancer, other malignancies