Refractory celiac disease is a rare subtype of celiac disease typified by a lack of resolution of symptoms despite 6-12 months of a strict gluten-free diet, and in the absence of other factors that may affect disease response or the presence of malignancy.
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Epidemiology
Precise figures for the prevalence and incidence of the refractory form of celiac disease are lacking. Data from small cohort studies of patients with celiac disease suggests that the prevalence in celiac populations is no greater than 1.5% 1. Women are more likely to be affected, reflecting the predilection for celiac disease itself in women 1. Most cases are seen in the over 50 years old age group, and it is very rare in the sub-30 years old group.
Clinical presentation
Diarrhea, abdominal pain and weight loss are the most frequently seen symptoms in a refractory celiac disease presentation. Other manifestations include sequelae of hypovitaminoses, anemia and lethargy. Venous thromboembolism and concurrent additional autoimmune conditions are common.
Radiographic features
Gastrointestinal findings of low specificity, such as mural thickening of the small bowel or mesenteric nodal enlargement, may be found in half of refractory celiac disease cases 1. Other appearances associated with celiac disease, such as atrophy of the spleen or cavitating mesenteric lymph node syndrome, are rare in the refractory form.
Treatment and prognosis
Most treatment is experimental, and it is difficult to develop effective therapies when the condition is so rare.