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Seronegative refractory celiac disease complicated by severe malnutrition, duodenal ulceration, and thromboembolic events in a young male: a case report

Year: 2025

Type: article

Abstract: Introduction and importance: Refractory celiac disease (RCD) is a rare and severe form of celiac disease (CD) marked by persistent villous atrophy and malabsorption despite strict adherence to a gluten-free diet. The seronegative variant lacks classical serologic markers, complicating diagnosis and delaying treatment. This delay may result in life-threatening complications, including ulceration, severe malnutrition, thromboembolism, and even substance dependence due to chronic pain. Case presentation: We present the case of a 15-year-old male with a 10-year-long history of gastrointestinal complaints, progressive weight loss, and failure to thrive. Initially diagnosed with seronegative CD via duodenal biopsy despite negative serology, he later developed persistent symptoms and mucosal damage despite dietary compliance, fulfilling the criteria for RCD type I. Complications included severe protein-energy malnutrition (body mass index 10 kg/m 2 ), a large duodenal ulcer, thrombi in the femoral and iliac veins, bilateral pulmonary embolism, and opioid dependence secondary to chronic abdominal pain. Imaging and endoscopy confirmed duodenal ulceration and thromboembolic events, while histopathology reaffirmed total villous atrophy. The patient was managed through a multidisciplinary approach involving nutritional rehabilitation, Helicobacter pylori eradication, anticoagulation, multimodal pain therapy, and psychiatric support. Clinical discussion: This case underscores the necessity for clinicians to maintain a high index of suspicion for refractory and seronegative CD in patients with persistent gastrointestinal symptoms and malnutrition, even in the absence of serologic evidence. Comprehensive workup, including biopsy, imaging, and nutritional assessment, is critical. Conclusion: Multidisciplinary interventions are essential for preventing systemic complications and improving outcomes in this complex and often overlooked disease phenotype.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000003817