Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory disease of the arteries most commonly involving the kidneys (renal arteries) and neck (carotid arteries). The condition typically presents in women around age 40, but it can occur in all age groups and men. Hypertension is the most common presenting finding, although patients may have various symptoms, including headaches, dizziness, and strokes are possible in some cases. Renal artery involvement may lead to renal artery stenosis and subsequent elevated blood pressure and worsening kidney function. In addition to renal artery stenosis, FMD patients can also develop carotid artery dissections and stenosis, coronary artery dissections, and dissections/aneurysms/stenosis of other arteries.
There is no definite genetic etiology identified for FMD to date. There is evidence to support familial occurrence with AD inheritance in a small percentage of FMD patients. FMD may present with clinical features suggestive of other Mendelian vascular connective tissue disorders such as Ehlers Danlos syndrome vascular type. Genetics evaluation would help in assessing the individuals for other possible connective tissue etiology and recurrence risk counseling.
