What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (pronounced "alfa-one anti-trip-sin") is a genetic disease than can cause lung and liver problems. Often called Alpha-1, this condition is caused by low levels of a protein in the blood called alpha-1 antitrypsin (AAT).
Normally, the AAT protein is made in the liver and then released into the blood stream. AAT is most important in the lungs and the liver. Its role is to protect against enzymes that break down cells. When AAT is low or missing, the elastic tissue in these organs becomes damaged and can't work as well. This causes lung and liver disease and sometimes other health problems.
Signs and Symptoms
Alpha-1 lung disease is usually the first symptom. It is most often misdiagnosed as asthma. It tends to show up when people are in their 20s or 30s, but symptoms can develop at any age. Liver disease affects a smaller percentage of people with Alpha-1. The risk of liver problems increases over time. Other factors — both genetic and environmental — often play a role in whether someone develops lung or liver disease.
Signs and symptoms of Alpha-1 lung disease:
- Difficulty breathing or wheezing
- Chronic cough
- Excess phlegm (mucus)
- Frequent lung or sinus infections
- Asthma that can't be treated completely, even with medicine
- Bronchiectasis (chronic inflammation of the lungs) without a known cause
- Emphysema or chronic obstructive pulmonary disease (COPD)
Signs and symptoms of Alpha-1 liver disease:
- High liver enzymes on lab testing
- Yellow or bronze color of the skin or eyes (jaundice)
- Hardening of the liver due to build-up of scar tissue (cirrhosis)
- Liver cancer
- Unexplained liver disease at any age
There are also two rare conditions associated with Alpha-1. Necrotizing panniculitis is a treatable skin condition in which painful, red lumps appear on the thighs that can develop into ulcers and dead tissue. Anti-proteinase 3-positive vasculitis (or C-ANCA) is an inflammation of blood vessels or lymph nodes.