Z Rheumatol. 2017 Mar;76(2):166-169. doi: 10.1007/s00393-016-0247-3.
[].
[Article in German]
- 1
- ACURA-Rheumazentrum Baden-Baden, Rotenbachtalstr. 5, 76530, Baden-Baden, Deutschland. c.fiehn@acura-kliniken.com.
Abstract
A 58-year-old
patient presented with a severe, episodic panniculitis of the upper
legs. Necrosis of the fatty tissue and a suspected superinfection led to
amputation of one leg. The panniculitis was caused by a hereditary
deficiency of alpha-1 antitrypsin (AAT) due to a ZZ mutation of the AAT
gene. Neutrophilic panniculitis is found in 0.1% of patients with the ZZ
mutation and therefore is the rarest clinical manifestation of AAT
deficiency. With the exception of mild COPD, the patient had no other
typical clinical symptoms of AAT deficiency. Treatment with colchicum reduced the frequency and severity of the flares.
KEYWORDS:
Alpha-1 antitrypsin; Colchicin; Panniculitis
