α1-Antitrypsin Deficiency Panniculitis
α1-Antitrypsin deficiency panniculitis (A1ADP) is a rare form of panniculitis that affects children and adults. Clinical and histologic features, precipitating factors, and treatments are discussed.
The case reported here demonstrates many important features of A1ADP. First, our patient linked the onset of her symptoms to her fall down the stairs and her resulting injury of the right lower extremity. Another reviewer found that 6 of
18 cases of A1ADP were precipitated by trauma,8 and an investigator reported the case of a patient who had subclinical 1-antitrypsin deficiency and who developed panniculitis after trauma induced by cryosurgery.9
Second, our case demonstrates the typical clinical characteristics of A1ADP, including location on the proximal area of the lower extremities and axilla
and drainage of serous fluid. Lesions of this disease begin as tender, erythematous, indurated subcutaneous nodules that may be widely disseminated on the trunk or extremities. These lesions spontaneously ulcerate and drain oily, serosanguineous fluid.1 As reported in a review, 16 patients developed such lesions predominantly on the trunk and proximal area of the extremities.8
Third, our patient was diagnosed with a secondarily infected hematoma and cellulitis; repeated trials of antibiotics failed. Antibacterial treatment is completely ineffective in the management of A1ADP. Failure of multiple trials of oral antibiotics
and intravenous antibiotics exemplifies the difficulties encountered in making the diagnosis of A1ADP.
Integral to the diagnosis of our patient’s condition was the right axillary skin biopsy and laboratory evaluation of serum α1-antitrypsin level. Foci of fat necrosis adjacent to large areas of normal fat and acute lobular panniculitis with a large number of neutrophils are characteristic findings.
Other histologic findings should be addressed. Geller and Su3 described the earliest histopathologic findings of A1ADP as splaying of neutrophils between collagen bundles in the reticular dermis. Degeneration of collagen within the dermis, progressive dermal necrosis, and subsequent involvement of fibrous septa and subcutaneous fat are additional features of A1ADP. Therefore, histologic examination is an important diagnostic tool.
The cornerstone of the diagnosis in our patient’s case was the finding of a low level of α1-antitrypsin (37.0 mg/dL) and P1 typing of ZZ. Given the availability of the assay and the prolonged diagnostic challenge marked by multiple unsuccessful trials of antibiotics, running the assay earlier in the workup may be beneficial in cases with a high index of suspicion.
Treatment of A1ADP should include avoidance of trauma and surgical debridements—frequent precipitating factors of panniculitis.10 Dapsone, seemingly the treatment of choice, has been anecdotally effective in a number of cases of A1ADP.
For homozygous patients who have severe forms of the disease and who present with severe emphysema and liver failure, supplemental infusion of exogenous α1 protease inhibitor concentrate has been suggested as the most important therapeutic possibility.9
A1ADP is difficult to diagnose but should be considered when a patient with recurrent painful indurated plaques presents after sustaining a localized trauma.
