Alpha-1 antitrypsin deficiency is most often associated with lung disease. It is also associated with liver disease and some rare conditions.

Alpha-1 lung disease tends to show up when people are in their 20s or 30s, but symptoms may develop at any age. Many people who have Alpha-1 never experience symptoms or significant lung impairment.

Signs and symptoms of Alpha-1 lung disease include:

• Shortness of breath, with or without exercise
• Wheezing, excess phlegm (mucus), or a persistent cough
• Fatigue
• Recurrent lung or sinus infections
• Emphysema or chronic obstructive pulmonary disease (COPD)
• Asthma with airflow obstruction that is not completely reversible after treatment with bronchodilators
• Abnormal lung function tests with or without known risk factors (like smoking or environmental exposures)
• Bronchiectasis, a chronic inflammation of the lungs, without a known cause

Liver disease affects a small percentage of people with Alpha-1. Other factors – both genetic and environmental – often play a role in whether someone develops liver disease. Although liver complications can occur at any age, the risk increases over time. Men have a greater chance of developing liver disease than women.

Signs and symptoms of Alpha-1 liver disease include:

• Elevated liver enzymes (determined by lab testing)
• Jaundice – a yellow or bronze color of the skin or eyes
• Cirrhosis – hardening of the liver due to build-up of scar tissue
• Hepatocellular carcinoma – a type of liver cancer
• Unexplained liver disease in newborns, children, adults, and especially the elderly

Other, less common conditions associated with Alpha-1 are:

• Necrotizing panniculitis – a treatable skin condition in which painful, red lumps appear on the thighs that can develop ulcerations and eventually death of skin cells (or "necrotizing")
• Vasculitis – a inflammation of blood vessels or lymph nodes, specifically called anti-proteinase 3-positive vasculitis (or C-ANCA)

If you have signs or symptoms of Alpha-1, a DNA test can tell you whether they are being caused by the two most common genetic changes related to Alpha-1. With this information you can begin appropriate screening, make informed treatment decisions, modify lifestyle or occupational exposures, identify at-risk family members, and make informed family planning decisions.