Arterial Fibromuscular Dysplasia Associated With Severe α₁-Antitrypsin Deficiency

To elucidate the putative arteriopathy associated with α₁-antitrypsin (α₁-AT) deficiency. We retrospectively studied the frequency of occurrence of fibromuscular dysplasia (FMD) in patients with α₁-AT deficiency in whom a postmortem examination had been done during a 10-year period at the Mayo Clinic. The medical records of all patients in whom an autopsy was done at the Mayo Clinic between 1983 and 1992 were reviewed to identify all those with a diagnosis of α₁-AT deficiency or FMD. Arterial FMD was found in 2 of 6 patients with α₁-AT deficiency (33.3%; 95% confidence interval, 4.3 to 77.7%) in comparison with 23 of 6,690 patients without α₁-AT deficiency (03%; 95% confidence interval, 0.2 to 0.5%). In both patients with α₁-AT deficiency and FMD, the arterial media was thickened and composed of irregular arrays of muscular and connective tissue fibers in a background of mucoid ground substance. These findings provide further evidence for an underlying arteriopathy in patients with α₁-AT deficiency and suggest that FMD may be a nonspecific disorder.