Alpha-1 Antitrypsin Deficiency or Alpha-1 is a genetic (inherited) condition that may result in serious, chronic lung and/or liver disease at various ages in life (children and adults).  Disease is caused by an abnormal alpha1 protein that is mainly produced by the liver. Alpha-1 is diagnosed by a blood test.  The most alarming news? Current data suggest that less than 10% of those people living with Alpha-1 have been properly diagnosed.  

Alpha-1 is often misdiagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). How are the lungs affected?  The abnormal alpha-1 protein is trapped in the liver, causing a deficiency of the protein that would normally circulate in the blood and protect the lungs from many types of damage.  The main result may be emphysema (destruction of supporting structures/air sacs within the lung), even in adult, never smokers. Despite treatments, including protein replacement, adults may require a lung transplant due to severe emphysema.

Liver disorders are caused by the accumulation of the abnormal alpha-1 protein within the liver cells. The effects of such accumulation can range from abnormal liver function tests without symptoms to severe, symptomatic scarring (cirrhosis of the liver) and, rarely, liver cancer.  Children and adults may require a liver transplant if the liver is severely affected.

Important Facts about Alpha-1

• It is estimated that Alpha-1 affects 1 out every 2,500 people in the US. 

• It takes an average of three doctors and seven years from the time lung symptoms first appear before proper diagnosis is made.

• More than 12 million people have been diagnosed with COPD in the United States, and about 3 percent of them are predicted to have Alpha-1. (Another 12 million people with COPD don’t even know they have it, according to the National Heart, Lung & Blood Institute)

• About 10 to 15% of all liver transplant candidates have the Alpha-1 related genetic abnormalities.

• Alpha-1 is the most common genetic disease for which pediatric liver transplantation is done.

• An estimated 20 million people in the United States are undetected carriers of an abnormal gene that causes Alpha-1, and may pass the gene on to their children.

Common Signs and Symptoms of Alpha-1

Family history of lung disease or liver disease

Symptoms:

•    Shortness of breath

•    Wheezing or non-responsive asthma

•    Coughing with or without sputum (phlegm) production

•    Recurring respiratory infections

•    Rapid deterioration of lung function

•    Unexplained liver problems and /or elevated liver enzymes

For information on Alpha-1 testing, please click here to visit the Alpha-1 Foundation's webpage.