A rare disease a day: Fibromuscular dysplasia

In honor of rare disease day, I am using my Monday-Friday posts to raise awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease , Batten disease , Hurler Syndrome, Charcot-Marie-Tooth today is the turn of Fibromuscular dysplasia.

Fibromuscular dysplasia (FMD), is a non-atherosclerotic, non-inflammatory vascular disease that causes abnormal growth within the wall of an artery. The most common arteries affected are the renal and carotid arteries yetFMD has been found in nearly every arterial bed in the body. FMD has been pathologically categorized into three types. Medial fibroplasia is the most common followed by Intimal and adventitial forms. The disease  affects predominantly middle-aged women, but also people of all ages The prevalence of FMD is unknown and may be under diagnosed. The etiology of FMD is not a single identifier such as genetics but has multiple underlying factors.

Symptoms of FMD are  dependent on the vascular bed(s) affected, many times FMD is discovered when imaging studies are performed for other reasons. Renal FMD causes presents as hypertension and bruits audible over the abdomen or flanks with aneurysms, dissections, or occlusion of the renal artery common. Patients with FMD in the carotid arteries have symptoms such as headaches (mostly migraine), pulsatile tinnitus, dizziness, and neck pain. Symptoms secondary to a stroke may also be detected.

While there is no known cure for FMD, treatment focuses on relieving symptoms e.g. in renal FMD blood pressure control is important, in patients with FMD in the carotid arteries aspririn, anticoagulants are used. FMD needs to be managed to control the disease and prevent strokes, nerve damage or death.

A brief analysis of the literature in PubMed suggests lots of case reports and retrospective analyses but not a great deal of basic molecular or other biology studies. Perhaps this would be a great opportunity for a systems type of approach that encompasses genetic, metabolic and proteomic data from actual patients to provide more insights into the disease.

The Fibromuscular Dysplasia Society of America funds research activities, provides patient support, and education for patients and the healthcare community. They also funded a patient registry. Other sources of useful information for patients and carers include FMD Chat.


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