Osteoprotegerin deficiency and aneurysm formation: Case report of iliac artery aneurysms in Juvenile Paget's disease

Abstract

Background: Juvenile Paget's disease (JPD, OMIM #239,000) is a rare heritable disorder of the skeleton usually caused by bi-allelic loss-of-function mutation(s) of the tumor necrosis factor receptor superfamily member, 11B gene (TNFRSF11B), resulting in deficiency of the encoded protein osteoprotegerin (OPG). Deficiency of this signaling molecule leads to osteoclast activation and accelerated bone turnover. Vascular complications of JPD include intracranial carotid artery and brachial artery aneurysms. Iliac artery aneurysms have not been described in these patients. Case presentation: We report an 18-year-old man with JPD and bilateral common iliac artery aneurysms discovered incidentally during endovascular treatment of an intracranial internal carotid artery aneurysm (iICA). CT imaging showed a fusiform right common iliac artery aneurysm measuring 2.1 cm, and a fusiform left common iliac artery aneurysm measuring 1.8 cm. To our knowledge, our case is the first report of JPD associated with iliac artery aneurysms. Conclusions: Our experience supports an emerging association between OPG deficiency and arterial aneurysms. JPD from OPG deficiency requires surveillance for aortic and peripheral vasculopathies.