Alpha-1 Antitrypsin Deficiency (A1AD)

What is A1AD?

Alpha-1 Antitrypsin Deficiency (A1AD) is an inherited condition characterized by low blood levels of the protein Alpha-1 Antitrysin (A1AT). The deficiency of this protein can lead to lung and liver disease as well as skin problems. A1AD is estimated to be found in 1 in 1,500-3,000 individuals of European ancestry. This condition is less prevalent in Asian and Black populations.

What are the symptoms of A1AD?

The onset and severity of the symptoms of A1AD vary by the individual and areas affected. This condition can cause disease and damage in the lungs, liver and skin. Lung disease: The symptoms of A1AD lung disease usually appear between the ages of 20 and 50. These symptoms include:

Shortness of breath
Wheezing
Activity intolerance and fatigue
Repeated respiratory infections
Unintentional weight loss
Rapid heart rate upon standing
Development of the advanced lung disease known as Emphysema. This advanced disease leads to difficulty breathing, harsh/hacking cough and barrel-shaped chest.

Liver disease: Approximately 10 percent of all infants and 15 percent of all adults with A1AD develop liver disease. These symptoms include:

Swollen/distended abdomen
Yellowing of skin and eyes (jaundice)
Elevated liver enzymes
Dark urine
Swollen hands and feet
Chronic itching
Development of cirrhosis
Increased risk of liver cancer

Skin problems: A rare symptom of A1AD is the skin condition known as panniculitis. Symptoms of this include:

Hard, painful lumps under the skin
Skin lesions

What causes A1AD?

A1AD is caused by an inherited mutation of a gene known as SERPINA 1. This gene is responsible for the proper production of the protein Alpha-1 Antitrypsin. This protein protects the body from an enzyme known as neutrophil elastase. This enzyme is released by white blood cells to fight infection. Without enough A1AT this enzyme can attack normal body tissues such as the lungs. Abnormal A1AT protein becomes trapped in the liver leading to liver damage.

What are the treatment options for A1AD?

A1AD has no cure. Treatment is currently directed at the related lung disease. These treatment options include:

Medications known as inhaled bronchodilators and steroids to open airways
Flu and pneumonia vaccines to help prevent lung infections
Early diagnosis and treatment of lung infections
Supplemental oxygen
Lung rehabilitation to assist in increased lung function
Lung transplant if the individual is a candidate

For those individuals with liver and/or skin disease related to A1AD, treatment currently involves referral to and treatment by doctors that specialize in these areas affected. There is currently research being done on A1AT protein replacement as well as healthy gene replacement.