Fibromuscular dysplasia (FMD) is a rare vasculopathy for which limited data are available particularly from Europe. Our aim was to study the clinical characteristics of a regional cohort of carotid fibromuscular dysplasia patients to assess their clinical outcomes and the rate of vascular complications.
A retrospective cohort study of all cases of carotid/cerebrovascular FMD presenting to our regional vascular service (catchment population approximately 2 million), between 1998-2020. Imaging reports and patient case notes were screened using the keywords “FMD”, “Fibromuscular Dysplasia” and “carotid”. From case-note and imaging review, all relevant clinical data were extracted, and the anatomical extent of vascular disease recorded.
Eighty-six patients with a diagnosis of cerebrovascular fibromuscular dysplasia were identified on imaging (31 CTA, 46 MRA, 9 DSA) by a neurovascular radiologist. The mean age was 64 years, 78(90%) patients were female. and 45/59 (75%) were Caucasian. Presenting clinical syndromes were: Stroke/TIA in 54(63%) patients, symptomatic intracranial aneurysm in 6(10%) and other neurological symptoms (headache/migraine, tinnitus) in 14(16%), with 11(13%) presenting incidentally. Six patients (7%) had a positive family history of FMD (2 patients) or other cerebrovascular event (4 patients: carotid dissection, intracerebral bleed or stroke). Eight patients (9%) had a known or suspected hereditary connective tissue disorder (2 Ehlers-Danlos syndrome). Involved vessels were as follows: Carotid (mainly extracranial) in 79 (92%), vertebral 19(22%) and a combination of these in 15(17%) patients. 58(67%) patients had bilateral disease. Cerebrovascular complications were observed in 35(41%) patients as follows: carotid dissection, 11(23%), carotid stenosis or occlusion 8(9%), carotid aneurysm 8(9%), cerebral aneurysm 9(11%), vertebral aneurysm/dissection 2(2%), carotid-cavernous fistula 2(2%). Of the 22 patients who had extracranial imaging, 14(60%) had FMD affecting other beds – renal artery in 8(36%) patients, other visceral arteries in 4(18%), aorta in 2(9%). In addition, 4(18%) patients had aneurysm or dissection affecting renal, splenic and lower limb arteries. Overall, 67(80%) patients had FMD affecting more than one vessel and 50 (58%) had multi-site FMD (>/= 2 vascular beds involved). 59(68%) patients were managed conservatively on close surveillance. 19(21%) patients required carotid/cerebrovascular intervention and 9(10%) required vascular intervention at other sites. Recurrent cerebrovascular events (stroke/TIA, symptomatic Berry aneurysm) were seen in 20(23%) patients. Overall mortality was 7% over a median follow-up period of 47 months.
Carotid FMD patients have a high rate of multisite involvement, extracerebral vascular complications and evidence of hereditary vasculopathy, requiring careful screening and surveillance.

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