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Testing for Genetic Disorders

Related Genetic Tests

Alpha-1 Antitrypsin Deficiency

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ALPHA-1 ANTITRYPSIN DEFICIENCY

Who Should Consider Testing for Alpha-1 Antitrypsin Deficiency

About 116 million people worldwide are carriers for Alpha-1 Antitrypsin Deficiency. It's often called Alpha-1. Over 1 million people actually have Alpha-1 with severe medical complications. And, as many as 1 in every 10 to 33 people in the U.S. carry a gene change that can cause Alpha-1.

The majority of people who carry an Alpha-1 gene change do not know it. Many people who actually have medical complications from Alpha-1 do not know that Alpha-1 is the underlying cause.

Medical professionals, including the World Health Organization and the American Thoracic Society, agree that Alpha-1 is a largely unrecognized condition.

According to their medical guidelines, genetic testing is recommended for people with any of the following:

Siblings of a person known to have Alpha-1
Adults with signs or symptoms of Alpha-1 lung disease such as:
- Early-onset emphysema (45 years old or younger)
- Emphysema without a known cause or risk (such as smoking or occupational exposure)
- Chronic obstructive pulmonary disease (COPD)
- Asthma with airflow obstruction that is incompletely reversible after treatment with bronchodilators
- Abnormal lung function tests (persistent airflow obstruction) in people with no symptoms of Alpha-1 who have a known risk factor – like smoking or job exposures (agricultural products, mineral dust)
Unexplained liver disease – in newborns, children, adults, and especially the elderly
A skin condition called panniculitis

Genetic testing should be discussed and considered for people with:

A known family history of any of the above conditions
A known family member with Alpha-1
A partner known to have Alpha-1
Adolescents with abnormal lung function tests (persistent airflow obstruction)
Adults with lung complications such as:
- Bronchiectasis without a known cause
- Abnormal lung function tests (persistent airflow obstruction) in people with no symptoms of Alpha-1 who have NO known risk factors like smoking or job exposures
Anti-proteinase 3-positive vasculitis (or C-ANCA)
People who are at high risk for developing Alpha-1-related conditions because of their ancestry
People who are at high risk for developing Alpha-1-related conditions due to smoking or job exposures

Early signs and symptoms can include:

Shortness of breath (with or without exercise)
Wheezing, excess phlegm, or a persistent cough
Recurrent lung or sinus infections
Elevated liver enzymes (through lab testing)
Jaundice (a yellow or bronze color of the skin or eyes)

Alpha-1 can occur in people of all ethnic backgrounds, but is more common in people whose families originate from Europe.

Alpha-1 cannot be cured. But, especially if it is caught early, treatments and lifestyle modifications can slow progression or minimize the chance of developing lung and liver complications.

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