Coeliac Disease (Gluten-sensitive Enteropathy)

Coeliac disease is an autoimmune condition caused by sensitivity to the protein gluten. It is thought to affect around 1% of the UK population. 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-DQ8 (80%).

Screen the following people:

Signs and symptoms	Conditions
• Chronic or intermittent diarrhoea
• Failure to thrive or faltering growth (in children)
• Persistent or unexplained gastrointestinal symptomsincluding nausea and vomiting
• Prolonged fatigue('tired all the time')
• Recurrent abdominal pain, cramping or distension
• Sudden or unexpected weight loss
• Unexplained iron-deficiency anaemia, or other unspecified anaemia	• Autoimmune thyroid disease
• Dermatitis herpetiformis
• Irritable bowel syndrome
• Type 1 diabetes
• First-degree relatives (parents, siblings or children) with coeliac disease

Complications

anaemia: iron, folate and vitamin B12 deficiency(folate deficiency is more common than vitamin B12 deficiency in coeliac disease)
hyposplenism
osteoporosis, osteomalacia
lactose intolerance
enteropathy-associated T-cell lymphoma of small intestine
subfertility, unfavourable pregnancy outcomes
rare: oesophageal cancer, other malignancies

Case Scenario

A 17-year-old presents with progressive abdominal pain and dyspnea for the last two weeks, with a mild cough and blood-streaked sputum for the last three days. They deny any fevers, joint pain, diarrhea, or vomiting, as well as any new medications or drug use. They have had a few itchy papulovesicular lesions over the elbows and knees over the last few months.

Physical examination shows diminished breath sounds in the lung bases, and a chest X-ray reveals diffuse bilateral fluffy opacities. CBC shows an Hb of 9.5 g, WBC 14 and platelet count of 320. Comprehensive metabolic panel is normal. Chest CT is as shown with BAL demonstrating a progressively bloody return with >30% hemosiderin laden-macrophages, consistent with diffuse alveolar hemorrhage (DAH). Autoimmune testing is negative for ANA, ds-DNA, ENA, ANCAs, anti-GBM, cryoglobulins and anti-phospholipid antibody panel. tTG-IgA is >250 U/ml. QuantiFERON-TB is negative.

The patient is started on high-dose intravenous methylprednisolone 1 g daily for three days.

What is the next best step in treating this patient with dyspnea and abdominal pain?

A. Gluten-free diet

B. Cyclophosphamide