Panniculitis is defined as inflammation of the subcutis. Alpha-1 antitrypsin deficiency (AATD) is clearly, although uncommonly, associated with panniculitis. Clinical manifestations of panniculitis associated with AATD include red, painful nodular lesions that often weep with an oily discharge and commonly occur on the thighs, buttocks, and areas of physical trauma. Some distinctive clinical features of the panniculitis associated with AATD include neutrophilic inflammation, mainly lobular involvement, and frequent ulceration with oily drainage. The pathophysiology of panniculitis in AATD presumably relates to unopposed elastase activity.
Clinical experience with panniculitis in AATD is limited. Since the first reported case in 1972 in a young woman, literature review indicates that through 2004, a total of 41 patients had been reported. A MEDLINE search to the present time indicates 3 additional patients reported, for a total of 44 reported individuals. With regard to prevalence, only 1 of the 1129 participants in the National Heart, Lung, and Blood Institute Registry reported panniculitis. Among patients with panniculitis, available series suggest that PI*SS or PI*ZZ individuals comprise up to 5% of the group.
Various therapies for panniculitis associated with AATD have been tried, including corticosteroids, doxycycline, dapsone, plasma exchange, liver transplantation, and intravenous pooled human plasma alpha-1 antiprotease. Although neither a systematic comparison of available treatments or even a large observational series with any one therapy is available, the small reported experience with augmentation therapy suggests that this can confer rapid and dramatic improvements in panniculitis in alpha-1 antitrypsin deficient individuals.