Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease

作者：Brode Sarah K; Ling Simon C; Chapman Kenneth R^*

来源：Canadian Medical Association Journal, 2012, 184(12): 1365-1371.

DOI：10.1503/cmaj.111749

In Canada, primary care physicians provide care for 80%-90% of patients with asthma and chronic obstructive pulmonary disease (COPD).(1,2) Among these patients is a largely undetected and vulnerable minority who are genetically predisposed to rapidly and prematurely lose lung function because of the near absence of a protective glycoprotein, alpha-1 antitrypsin (also known as alpha(1), alpha-1 and alpha(1) antitrypsin). In North America, the prevalence of alpha-1 antitrypsin deficiency is about 1 per 3000 to 5000 people,(3,4) similar to that of cystic fibrosis.(5) Up to 5% of people with COPD are thought to have alpha-1 antitrypsin deficiency, yet only 4%-5% of those with a deficiency have been identified.(6,7) Even when the deficiency is diagnosed, there has typically been a delay of 5 to 10 years.(8)
In this review, we highlight the pathogenesis, clinical features, diagnosis and treatment of alpha-1 antitrypsin deficiency. The evidence used in this review is derived from a search of the available research literature and current guidelines (Box 1). Some management suggestions in this review are extrapolated from the literature on COPD, because the treatments have not been specifically studied for patients with alpha-1antitrypsin deficiency.

• 出版日期2012-9-4