Alpha-1 Antitrypsin Panniculitis
Panniculitis is one of the rarest manifestations of Alpha-1 Antitrypsin Deficiency. Being an inflammation of the layer of fatty and fibrous tissue located just below the layers of the skin, which is manifested by the appearance of: necrotic areas, spontaneous suppuration of the skin in the absence of previous trauma and by the appearance of hard or soft nodules on the skin surface. The nodules are painful, hot, red, sensitive and subsequently lead to ulceration by draining the clear, yellow, oily and sterile culture fluid.
These inflammations can persist for months and can progress from an acute to a chronic phase.
Most often, panniculitis occurs as a nonspecific redness of the skin, caused by dilated blood vessels, such as sunburn or inflammation. Panniculitis can be annoying and painful and can even cause functional limitations.
The first case of panniculitis was published in 1972 by Warter and has since been recognized as a rare complication of Alpha-1 Antitrypsin deficiency, with an estimated prevalence of about 1 in 1.000.
At the level of the sexes there is an equal distribution among the affected individuals.
In order to make a proper histopathological diagnosis, deep excisional biopsies with a large amount of tissue are required. Necrosis of adipose tissue is common, as well as the presence of normal-appearing fat juxtaposed to inflammatory and necrotic panniculus. Fragmentation and loss of elastic tissue in areas of inflammation are frequently observed but vasculitis, except that resulting from necrosis, is infrequent. The prognosis in these patients is variable and partly dependent on the presence of other Alpha-1 Antitrypsin deficiency complications related to, such as cirrhosis or emphysema. The panniculitis can be lethal.
They have been tried for panniculitis a variety of therapies, including corticosteroids, antibiotics or cytostatics but these appear to be useless. Augmentation therapy with purified human alpha-1 antitrypsin appears to be a safe and effective solution. Several patients with Alpha-1 Antitrypsin deficiency who have developed panniculitis have already been successfully treated with substitution therapy.
Articles and presentations
Alpha-1 Antitrypsin Deficiency - Panniculitis - Presentation by Dr. Sabina Janciauskiene
Alpha-1 Antitrypsin Deficiency - associated panniculitis in the Journal of the American Academy of Dermatology
Alpha-1 Antitrypsin Deficiency may be more prevalent among patients presenting with panniculitis than previously thought. Patients with panniculitis and systemic illness show high mortality risk. Although most cases are associated with the severe ZZ-genotype, moderate genotypes may also predispose to panniculitis. Dapsone remains the most cost-effective therapeutic option, whereas intravenous AAT augmentation remains the most efficacious. Finally, glucocorticoids appear ineffective in this setting.
To read the article, access the page Alpha-1 Antitrypsin Deficiensy associated panniculitis.