Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4 in 1,000 and the prevalence of cervicocranial FMD is about ... Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4 in 1,000 and the prevalence of cervicocranial FMD is about half of that. Histologic classification includes 3 main subtypes, intimal, medial, and perimedial, which may be associated in a single patient. 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 histologic lesions (summary by Plouin et al., 2007)
Early reports documented fibromuscular dysplasia in sibs but often did not examine earlier generations (Wood and Borges, 1963; Hansen et al., 1965; Halpern et al., 1965; Major et al., 1977).
Mettinger and Ericson (1982) reported observations ... Early reports documented fibromuscular dysplasia in sibs but often did not examine earlier generations (Wood and Borges, 1963; Hansen et al., 1965; Halpern et al., 1965; Major et al., 1977). Mettinger and Ericson (1982) reported observations on a genetic basis in relation to fibromuscular dysplasia leading to stroke. Among cases of fibromuscular dysplasia of arteries, particularly familial cases, von Recklinghausen neurofibromatosis (162200) should be suspected as an occasional 'cause' (Kousseff and Gilbert-Barness, 1989). Gatalica et al. (1992) described the case of a previously healthy 18-year-old black man with generalized fibromuscular dysplasia who developed dissection of the aorta beginning in the ascending aorta and extending into the abdominal aorta where complete occlusion below the origin of the renal arteries was found. The aneurysm had ruptured into the retroperitoneal space in the region of the right kidney. Tromp et al. (1993) demonstrated a point mutation in the gene for type III collagen (120180.0018) in this patient, who was later found to have Ehlers-Danlos syndrome type IV (130050). Fibromuscular dysplasia of arteries has also been observed in cutis laxa (219100). Safioleas et al. (2001) described the association of hypertrophic cardiomyopathy (see CMH1; 192600) and fibromuscular dysplasia of the superior mesenteric artery causing ischemic colitis. The patient was a 33-year-old man in whom cardiomyopathy had been diagnosed by echocardiography 3 years previously, after his father, who died suddenly, was found at autopsy to have had that disorder. He was asymptomatic but did have left ventricular hypertrophy on electrocardiography. Hospital admission was for diffuse abdominal pain with signs of peritoneal irritation. On exploratory laparotomy, gangrene of the small bowel, about 50 cm proximal to the ileocecal valve, was found. The pathologic specimen showed dysplasia of the superior mesenteric artery. Digital subtraction angiography of the celiac and mesenteric arteries showed a 'chain of beads' appearance typical of fibromuscular dysplasia. Safioleas et al. (2001) suggested that there may be a connection between hypertrophic cardiomyopathy and fibromuscular dysplasia of arteries since both have severe disorganization of the muscle fibers. Furthermore, they found a report of another case of the association (Scully et al., 1995).