Home > D. Systemic pathology > Vascular anomalies > arterial fibromuscular dysplasia

arterial fibromuscular dysplasia

MIM.135580

Tuesday 25 May 2004

Definition: Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that.

Fibromuscular dysplasia is an arterial occlusive disease of children or young adults that produces stroke, hypertension, claudication or myocardial infarction. The carotid, cerebral, renal, mesenteric, coronary or iliac arteries may be affected.

Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that.

Localization

Renovascular hypertension is the most common manifestation of renal artery FMD.

Cervicocranial FMD can be complicated by dissection with headache, Horner’s syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage.

Angiography

Angiographic classification includes the multifocal type, with multiple stenoses and the ’string-of-beads’ appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions.

Multifocal stenoses with the ’string-of-beads’ appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches.

Microscopy

Histological classification discriminates three main subtypes, intimal (intimal-type multivessel FMD - 5% of cases), medial and perimedial, which may be associated in a single patient.

Etiology

The etiology of FMD is mainly unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases.

- von Recklinghausen neurofibromatosis (MIM.162200)
- hypertrophic cardiomyopathy (MIM.192600)
- alpha-1-antitrypsin deficeincy (alpha-1-AT deficiency)
- Grange syndrome
- multifocal infantile myofibromatosis (15455480)
- intrauterine cocaine exposure (17868884)

Differential diagnosis

- atherosclerotic stenoses
- arterial stenoses associated with

  • vascular Ehlers-Danlos
  • Williams syndrome
  • type 1 neurofibromatosis (NF1)

References

- Fibromuscular dysplasia. Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X. Orphanet J Rare Dis. 2007 Jun 7;2:28. Review. PMID: 17555581 [Free]

- Fibromuscular dysplasia in association with intrauterine cocaine exposure. Thomas KR, Thomas SP, Hewan-Lowe KO, Pestaner JP. Cardiovasc Pathol. 2007 Sep-Oct;16(5):313-6. PMID: 17868884

- Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X. Fibromuscular dysplasia. Orphanet J Rare Dis. 2007 Jun 7;2(1):28. PMID: 17555581

- Slovut DP, Olin JW. Fibromuscular dysplasia. N Engl J Med. 2004 Apr 29;350(18):1862-71. PMID: 15115832