Abstract
The genetic disease α(1)-antitrypsin deficiency is best known to cause an early onset of chronic obstructive pulmonary disease due to an increased activity of the proteolytic enzyme elastase, and to cause increased risk of liver cirrhosis due to misfolding and polymerization of α(1)-antitrypsin in the liver. Research within recent years is pointing towards α(1)-antitrypsin deficiency being more of a systemic disease, affecting organ systems beyond the lungs and liver. It is well-established that the extracellular matrix in tissues of the cardiovascular system is comprised of elastic fibers, suggesting that these could be affected by the increased elastase activity, thereby affecting the susceptibility to cardiovascular disease in individuals with α(1)-antitrypsin deficiency. This paper reviews the possible associations between α(1)-antitrypsin deficiency and cardiovascular disease and finds that α(1)-antitrypsin deficiency seems to be associated with lower systolic blood pressure, reduced risk of ischemic heart disease, increased risk of heart failure and increased risk of atrial fibrillation. In conclusion, the review found that α(1)-antitrypsin deficiency is likely associated with cardiovascular disease, most of which can be prevented or treated if diagnosed in affected patients.