Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that can
cause lung disease in adults and liver disease in adults and children.
Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence
varies by population. For example, in Scandinavia this disorder
affects 1 in 1,500 to 3,000 individuals, but it is less common in
Asian and black populations. In North America, alpha-1 antitrypsin
deficiency affects 1 in 5,000 to 7,000 people. However, it is estimated
that about 116 million people worldwide (and 1 in every 10 to 33
Americans) are Alpha-1 carriers. Alpha-1 is a recessive genetic
condition, meaning that a person needs to have two altered copies
of the Alpha-1 gene to have serious complications.
Alpha-1 cannot be cured, but if Alpha-1 is diagnosed early, treatment
can be easy and successful. With early detection people with Alpha-1
can live healthier, longer lives.
The first signs and symptoms of lung disease caused by alpha-1
antitrypsin deficiency usually appear between ages 20 and 50. The
earliest symptoms are shortness of breath following mild activity,
reduced ability to exercise, and wheezing. Other signs and symptoms
can include unintentional weight loss, recurring respiratory infections,
fatigue, rapid heartbeat upon standing, and vision abnormalities.
Advanced lung disease leads to emphysema, in which small air sacs
in the lungs (alveoli) are damaged. Characteristic features of emphysema
include difficulty breathing, a hacking cough, and a barrel-shaped
chest. Smoking or exposure to tobacco smoke accelerates the appearance
of symptoms and damage to the lungs.
About 10 percent of infants and 15 percent of adults with alpha-1
antitrypsin deficiency have liver damage. Signs of liver disease
can include a swollen abdomen, swollen feet or legs, and yellowing
of the skin and whites of the eyes (jaundice).
In rare cases, alpha-1 antitrypsin deficiency also causes a skin
condition known as panniculitis, which is characterized by hardened
skin with painful lumps or patches. Panniculitis varies in severity
and can occur at any age.
now offers a genetic test to detect Alpha-1 antitrypsin deficiency