Can flow cytometry be a key in the difficult diagnosis of coeliac disease?

Abstract

We present the clinical case of a 39-year-old woman with a medical history of juvenile idiopathic arthritis and uveitis, evaluated for abdominal pain and distension, difficulty gaining weight, and diarrhea. Blood tests were requested, including antibodies which were negative and common genetic markers, showing positivity for HLA DQ 7.5. A gastroscopy with duodenal biopsies revealed findings consistent with stage 3b of the modified Marsh classification. Due to diagnostic uncertainty, an IEL study was performed, showing a characteristic CD pattern, leading to the initiation of a strict gluten-free diet (GFD). During follow-up, the patient showed partial improvement, with persistent digestive symptoms. A repeat endoscopic study revealed persistent atrophy, but refractory disease type 2 was ruled out. During a flare of rheumatologic disease, Tocilizumab was initiated by Rheumatology, resulting in improvement of duodenal atrophy.