What is the role of genetics in the pathophysiology of fibromuscular dysplasia (FMD)?

Updated: Jul 27, 2018
  • Author: James A Wilson, MD, MSc, FRCPC; Chief Editor: Helmi L Lutsep, MD  more...
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The increased incidence of FMD in women as compared with men suggests a possible hormonal or genetic influence. Some authors have proposed the sex difference to be related to immune system functioning, but overt inflammation, as is observed in most classic autoimmune diseases, is histologically lacking.

Many reports exist of familial occurrences of FMD, mostly in siblings. Some studies have even suggested that familial occurrence is relatively common. For example, Rushton in 1980 suggested familial occurrences in relatives of 12 out of 20 identified probands. [18] However, histologic proof was established in only the index cases, and vascular events such as early strokes and hypertension were used to identify the other affected family members. Most large series have reported that the great preponderance of FMD cases are sporadic. Bilateral renal FMD has been noted in a pair of identical twins. [19]

In case reports, FMD has been associated with mutations in collagen [20] , with cutis laxa [21] , and with alpha1-antitrypsin deficiency [22] . Associative links to neurofibromatosis, Alport syndrome, and pheochromocytoma have also been suggested. [2]

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