Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a condition which predisposes to emphysema and liver disease. It is inherited in an autosomal co-dominant fashion. 

Alpha-1 antitrypsin itself is a protease inhibitor produced in the liver. In the lungs this protects alveolar tissue from damage by neutrophil elastase. Its lack in the liver can result in cirrhosis.

A deficiency makes it likely COPD will develop in the third or fourth decade in smokers or fifth or sixth decade in non-smokers. The classical pattern of lung damage is panlobular emphysema in the lower lobes.

The severity of the deficiency depends on the alleles – ‘normal’ levels of alpha-1 antitrypsin occur with MM, with lower levels with SS and lower levels still with ZZ

Management involves avoidance of cigarette smoke and possibly lung/liver transplantation in end-stage disease. 

Small print gem: Panniculitis is associated with the ZZ form of alpha-1 antitrypsin deficiency. It is inflammation of fat under the skin and presents as a tender, ‘woody’ feeling area with nodules or lumps under the skin.

author profile image

Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry's standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book.

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)