Gastrointestinal Manifestations of CLOVES Syndrome

Joëlle St-Pierre; Anirudh Mirakhur; Nauzer Forbes

doi:10.14309/crj.0000000000001050

Gastrointestinal Manifestations of CLOVES Syndrome

ACG Case Rep J. 2023 May 10;10(5):e01050. doi: 10.14309/crj.0000000000001050. eCollection 2023 May.

Authors

Joëlle St-Pierre¹, Anirudh Mirakhur², Nauzer Forbes^{1

3}

Affiliations

¹ Division of Gastroenterology and Hepatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
² Department of Radiology, University of Calgary, Calgary, Alberta, Canada.
³ Department of Community Health Sciences, 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.

Keywords: CLOVES; bleeding; colonoscopy.

Publication types

Case Reports