Cystic Adventitial Disease With Familial Predisposition: A Case Study

Abstract

<jats:p> Cystic adventitial disease is a cause of nonatherosclerotic intermittent claudication. The diagnosis should be most frequently considered in middle-aged men without significant cardiovascular risk factors. The etiology of a cystic adventitial disease is not known, but direct communication between a joint and a cyst is considered to be the source of the disease. Patients affected by cystic adventitial disease frequently present with either claudication or swelling, involving the lower extremities. A characteristic popliteal cyst appearance is seen on noninvasive imaging that confirms the underlying diagnosis. A familial history of cystic adventitial disease requiring surgical intervention in multiple first-degree relatives indicates the need for further research into the possibility of a familial predisposition associated with the condition. In this report, the etiology, pathology, symptoms, diagnosis, and treatment methods are discussed. </jats:p>

Cystic adventitial disease of the popliteal vein and artery in siblings

“…Our limited experience in a sibling pair is insufficient to support any etiology or pathophysiology described in this paper for CAD. However, there exists rare cases described in literature J o u r n a l P r e -p r o o f describing a young male with aCAD who first and second-degree relatives with the disease as well (11). Although there is no reported evidence of genetic predisposition to the disease, perhaps a high degree of suspicion is warranted when family members present with similar symptoms.…”

“…However, another report also described a young male with aCAD who had had first- and second-degree relatives with the disease. 11 Although no evidence has been reported of a genetic predisposition to the disease, perhaps a high degree of suspicion is warranted when family members present with similar symptoms.…”