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Testing for Genetic Disorders

Related Genetic Tests

Alpha-1 Antitrypsin Deficiency

Includes a personalized report, a letter for your doctor, and toll-free support

Price: $330.00

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ALPHA-1 ANTITRYPSIN DEFICIENCY

Signs & Symptoms: Alpha-1 Antitrypsin Deficiency

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. Current research shows that people with Alpha-1-related liver disease rarely also have lung disease, and vice versa.

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)