Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is an inherited condition resulting in low levels of the alpha-1 antitrypsin due to the body's inability to make enough of this protein.

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what is alpha-1 antitrypsin deficiency?: Learn what defines what is Alpha-1 antitrypsin deficiency and what its general consequences are.
fast facts: Get a quick overview of alpha-1 antitrypsin deficiency through statistics and bite-sized facts.
symptoms: Learn about the symptoms of alpha-1 antitrypsin deficiency, how to recognize them, and what to do if you experience them.
lifestyle impacts: Find out how alpha-1 antitrypsin deficiency impacts your lifestyle.
what can I do?: Discover management and treatment strategies for alpha-1 antitrypsin deficiency
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what is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency causes the liver to produce abnormal alpha-1 antitrypsin with molecules that are a different shape. This abnormal alpha-1 anti-trypsin gets “stuck” in the cells of the liver, where it accumulates, disturbs cell function, and ultimately leads to liver fibrosis. Failure of alpha-1 antitrypsin to leave the liver leads to a decreased amount of the protein in blood and in other parts of the body, so its activity is low where it is needed (for example, in the lungs). Most people who are diagnosed with alpha-1 antitrypsin deficiency present with significant lung disease in adulthood. A small number of those diagnosed with alpha-1 antitrypsin deficiency are identified in childhood as a result of abnormalities within the liver.

what is alpha-1 antitrypsin?

Alpha-1 antitrypsin is a protein produced in the liver to protect the lungs from enzymes produced by inflammatory cells, such as neutrophil-elastase. These enzymes are aimed at killing bacteria but can also cause damage to the liver and lung tissue if not properly controlled.

fast facts

Alpha-1 antitrypsin deficiency is most common in people of European descent but can be present in people of all racial backgrounds.
15% of individuals with alpha-1 antitrypsin deficiency will develop liver damage due to liver scarring.
Sometimes individuals are misdiagnosed with asthma instead of alpha-1 antitrypsin deficiency.

symptoms

Symptoms of alpha-1 antitrypsin deficiency most often present in one of three ways:

As an infant:
- jaundice and abdominal swelling caused by inflammation and obstruction of the liver cells.
As a child or adult of any age:
- increased liver enzymes when blood work is drawn for an unrelated reason.
- liver cirrhosis including jaundice, ascites, and variceal hemorrhage.

lifestyle impacts

Many people with alpha-1 antitrypsin deficiency may have few or no symptoms. However, early diagnosis of this condition is crucial to prevent serious lung damage. Since alpha-1 antitrypsin deficiency affects the functioning of the lungs, individuals with this condition often find exercising more difficult due to shortness of breath.

what can I do?

prevention

Alpha-1 antitrypsin deficiency is a genetic condition and therefore cannot be prevented.

diagnosis

A diagnosis is established by demonstrating a very low level of alpha-1 antitrypsin in the blood and by identifying the abnormal protein in blood by specific testing. In healthy individuals the normal protein is called “M”. The abnormal protein is called “Z”.

Additional blood tests should be performed to evaluate liver function. In some cases, a liver biopsy may be needed. Breathing tests, chest x-ray and blood work may also be performed to assess lung function in those affected.

treatment

Mild liver disease may need no specific treatment. As liver disease progresses, many lifestyle adjustments can help to maintain liver function and reduce complications of liver disease associated with alpha-1 antitrypsin deficiency. Examples of therapies include:

Eating a high protein balanced diet
Supplementing with vitamins
Management of portal hypertension and screening for varices
Management of ascites

In rare instances where the disease progresses to liver failure, liver transplantation may be indicated as definitive treatment.