Don’t fight Alpha-1 antitrypsin deficiency alone.
Find your community on the free RareGuru App.Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis). Lung (pulmonary) problems almost always occur in adults, whereas liver and skin problems may occur in adults and children. The age symptoms begin and severity of symptoms can vary depending on how much working alpha-1 antitrypsin protein (AAT) a person has. Symptoms may include shortness of breath and wheezing, repeated infections of the lungs and liver, yellow skin, feeling overly tired (fatigue), rapid heartbeat when standing, vision problems, and weight loss. However, some people with AATD do not have any problems.
AATD is caused by changes (pathogenic variants, also called mutations) in the _SERPINA1 _gene and it is inherited in a codominant manner. The genetic changes cause too little or no working alpha-1 antitrypsin protein (AAT) to be made. AAT is made in the liver cells and sent through the bloodstream to the lungs where it helps protect the lungs from damage. Having low levels of AAT (or no AAT) may allow the lungs to become damaged. A build-up of abnormal AAT can cause liver damage. Diagnosis may be suspected by finding low levels of AAT in the blood and confirmed by genetic testing. Treatment may include infusions of AAT. Other treatment depends on the type and severity of the person's medical problems, but may include bronchodilators to open airways, antibiotics for upper respiratory tract infections, and in severe cases, lung transplantation or liver transplantation.
Source: GARD Last updated on 05-01-20
Alpha-1 antitrypsin deficiency (AATD) is caused by changes (pathogenic variants, also known as mutations) in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT). One of the jobs of AAT is to protect the body from another protein called neutrophil elastase. Neutrophil elastase is an enzyme that helps the body fight infections, but it can also attack healthy tissues (especially the lungs), if not controlled by AAT.
Genetic changes that cause AAT may mean that the body's liver cells make too little or no AAT, or make a form (variant) of AAT that does not work well (abnormal AAT). This allows neutrophil elastase to destroy lung tissue, causing lung disease.
In addition, abnormal AAT can build up in the liver and cause damage to the liver, especially in people who have two copies of the specific genetic variant called allele Z (sometimes written as PI*ZZ). Liver problems do not occur in people who do not make any detectable AAT, for example when a person has two null alleles of the SERPINA1 gene.
The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals.
Last updated on 05-01-20
Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people who have symptoms of liver disease at any age, or who have symptoms of lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age.
Confirming the diagnosis involves a blood test showing a low level the alpha-1 antitrypsin protein (AAT) in the blood, and either:
or
Specialists involved in the diagnosis may include primary care doctors, lung specialists (pulmonologists), and/or liver specialists (hepatologists ).
Last updated on 05-01-20
In general, the treatment of medical problems associated with alpha-1 antitrypsin deficiency (AATD) includes the standard medical therapies and supportive care for the specific medical problem. However, there is one special therapy available to some people with AATD who have lung problems called augmentation therapy (sometimes called replacement therapy).
Augmentation therapy aims to increase the blood level of alpha-1 antitrypsin protein (AAT) by adding purified, human AAT directly into the person's blood through intravenous (IV) infusion. The goal is to prevent the progression of lung disease. Skin problems usually get better as well. Augmentation therapy does not affect liver disease associated with AATD.
Augmentation therapy is indicated only when people with AATD:
Other treatments depend on symptoms but may include:
Routine recommendations to avoid medical complications include:
Last updated on 05-01-20
Alpha-1 Foundation Genetic Counseling Center. The Call Center offers information and resources to individuals, family members and medical professionals on the genetics of Alpha-1 and provides information on testing options. Contact 800-785-3177 to ask a genetic counselor questions about alpha 1 antitrypsin deficiency.
Last updated on 04-27-20
Sandhaus RA, Turino G, Brantly ML, et al. The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Chronic Obstr Pulm Dis (Miami). 2016; 3(3):668-682.
Last updated on 04-27-20
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