Gastrointestinal Manifestations of CLOVES Syndrome
Joëlle St-Pierre1, Anirudh Mirakhur2, Nauzer Forbes1,3
1Division of Gastroenterology and Hepatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
Abstract:
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies (CLOVES) is a recently recognized syndrome. It is caused by somatic mutations in the PIK3CA gene that regulates cell growth and division. Although gastrointestinal manifestations of other PIK3CA-associated disorders have been described, they have not been well-characterized in CLOVES syndrome. We present a case report of a 34-year-old man with an established diagnosis of CLOVES syndrome who underwent a diagnostic colonoscopy for hematochezia and colonic wall thickening on imaging. Colonoscopy revealed widespread variceal-like submucosal lesions. Computed tomography/angiography showed the absence of the inferior mesenteric vein, impairing venous drainage.
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