Spontaneous Jejunal perforation in coeliac disease: diagnostic dilemma and navigating treatment beyond gluten-free diet in the absence of refractory disease

Abstract

Coeliac disease (CD) is relatively common in the West, affecting up to 1% undergoing serological screening and 0.6% histologically confirmed diagnosis of the population [1]. The pathophysiology involves a complex interplay between genetic susceptibility, environmental, and immunologic factors, resulting in chronic inflammation. 95% of people with CD exhibits the HLA-DQ2 and HLA-DQ8 genes which are crucial for presenting gluten-derived peptides to immune cells. The end result is activation of CD4+ T-helper cells in the lamina propria. These cells release inflammatory cytokines such as interferon-gamma that drive chronic inflammation and ultimately villous atrophy [2]. While treatment is mainly conservative and mandatory avoidance of gluten-containing diet, a small proportion fails to response to this measure, leading to progressive disease and refractory malabsorption. This is called the refractory CD (RCD). Diagnosis of this requires absolute proof that Gluten-Free Diet (GFD) has been adopted for at least 12 months, apart from exclusion of other potential causes that may mimic CD [3]. RCD is categorised into type 1 and type 2, based on the presence of aberrant intraepithelial lymphocytes, with the latter carrying a worse prognosis. Most cases of CD associated Ulcerative Jejunitis (UJ), a chronic immune-mediated deep ulceration within the jejunum is found coexisting with type 2 RCD. Very few presents with UJ alone with no RCD association.