A rare case of familial carotid body tumor in a patient with bilateral fibromuscular dysplasia.

Abstract

Carotid body tumors (CBTs) are neuroendocrine tumors that arise due to mutations of respiratory cycle enzymes. Fibromuscular dysplasia (FMD) is a disease that causes narrowing of medium-sized arteries. There is no documented link between CBT and FMD. In this article, we report a case of a patient with bilateral carotid FMD and familial CBT, including one in an identical twin who underwent successful surgical excision of the CBT. We describe specific considerations in the management of CBT in patients with concomitant carotid FMD. Also, we review the literature about the genetics of familial CBT and its possible relationship to the etiology of FMD.