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Alpha-1-antitrypsin



Why Get Tested

To help diagnose the cause of early onset emphysema and or liver dysfunction to establish the risk of emphysema and or liver disease due to alpha-1 antitrypsin deficiency and determine the likelihood that children might inherit the risk

When To Get Tested

When your infant or young child show signs of liver disease when you develop emphysema before age 40 when you have chronic obstructive pulmonary disease COPD or unexplained liver disease at any age when you have a close relative with alpha-1 antitrypsin deficiency

Sample Required

A blood sample drawn from a vein in your arm

Test Preparation Needed

None




Common Questions


Alpha-1 antitrypsin AAT testing is used to help diagnose alpha-1 antitrypsin deficiency as the cause of early onset emphysema or chronic obstructive pulmonary disease COPD when a person does not have obvious risk factors such as smoking or exposure to lung irritants such as dust and fumes It may also be used when someone has asthma that obstructs his or her breathing even after treatment Testing is also used to help diagnose the cause of persistent jaundice and other signs of unexplained liver injury This is done primarily in infants and young children but may be done in people of any age Testing may also be used to help determine whether a person who has a family history of alpha-1 antitrypsin deficiency has one or two copies of the SERPINA1 gene Three types of AAT tests are commonly available One or more of these may be used to evaluate an individual Alpha-1 antitrypsin measures the level of the protein AAT in blood Alpha-1 antitrypsin phenotype testing evaluates the amount and type of AAT being produced and compares it to normal patterns Alpha-1 antitrypsin genotype testing DNA testing can be used to establish which SERPINA1 gene alleles are present including the normal wild type M allele or variant alleles This test does not identify every variant but it will detect the most common ones S and Z as well as variants that may be common in a particular geographical area or family Once the affected person s SERPINA1 gene alleles have been identified other family members may be tested to establish their own risk of developing emphysema and or liver involvement as well as the likelihood that their children might inherit the disease Gene sequencing is uncommon for AAT but may be necessary to identify rare alleles and obtain an accurate diagnosis

Alpha-1 antitrypsin testing may be ordered when An infant has jaundice that lasts for more than a week or two an enlarged spleen fluid accumulation in the abdomen ascites persistent itching pruritus and other signs of liver injury Someone of any age has COPD raised tender skin spots that form ulcers necrotizing panniculitis a vascular disease called granulomatosis with polyangiitis or unexplained airway widening bronchiectasis A person younger than 40 years of age develops wheezing a chronic cough or bronchitis is short of breath after exertion and or shows other signs of emphysema this is especially true when the person is not a smoker has not been exposed to known lung irritants and when the lung damage appears to be located low in the lungs Someone has a close relative with alpha-1 antitrypsin deficiency An individual has an affected family member and wants to know the likelihood of having an affected child In their 2003 guidelines the American Thoracic Society recommends AAT testing when individuals are diagnosed with certain conditions such as Emphysema at a young age younger than 45 years old and or no obvious risk factors for the disease such as smoking Bronchiectasis Asthma that is difficult to treat Liver disease with no known cause Necrotizing panniculitis In their 2016 guidelines intended to update the American Thoracic Society s guidelines the Alpha-1 Foundation recommends AAT testing for all individuals with COPD Liver disease with no known cause Necrotizing panniculitis Granulomatosis with polyangiitis Unexplained bronchiectasis The Alpha-1 Foundation also recommends offering AAT testing and genetic counseling to individuals with close or extended family carrying an abnormal AAT gene

AAT level A low level of AAT in blood indicates that the person tested may have alpha-1 antitrypsin deficiency The lower the level of AAT the greater the risk of developing emphysema and other disorders related to AAT deficiency Phenotype test In people with an abnormal form of AAT the risk of developing disease depends on how much is produced and which variant is present A variant with very low activity may lead to both emphysema because it does not protect the lungs and liver disease because of the buildup of abnormal AAT inside liver cells Genotype test Most people in the U S have two copies of the normal wild type MM gene and produce sufficient AAT When DNA testing indicates the presence of one or two abnormal copies of the SERPINA1 gene less AAT and or abnormal AAT will be produced The degree of AAT deficiency and the degree of lung and or liver damage can vary greatly Two people with the same abnormal genes may have very different disease courses As with any genetic testing a genetic counselor can explain the likelihood that the disease may be passed on to the affected person s children People with one copy of M and one of S or Z MS or MZ will produce reduced amounts of AAT but should have enough to protect themselves They will be carriers of the condition however and can pass it on to their children Individuals with two copies of S SS may be asymptomatic or moderately affected they produce about 60 of normal AAT People with one copy of S and one of Z SZ are at an increased risk of developing emphysema they produce about 40 of normal AAT Individuals who have two copies of Z ZZ are the most severely affected they only produce about 10 of the required AAT along with those who have one or two copies of rare forms of the SERPINA1 gene that are null they do not produce any AAT

AAT is an acute phase reactant This means that it will be elevated in acute and chronic inflammatory conditions infections and with some cancers Increased levels of AAT may also be seen with oral contraceptive use pregnancy and stress These temporary or chronic AAT increases may cause levels to appear normal in people with mild to moderate AAT deficiency AAT levels may be decreased in neonatal respiratory distress syndrome and in conditions that cause a decrease in serum proteins such as kidney disease malnutrition and some cancers Protein electrophoresis is a test that evaluates many different proteins in the blood Sometimes the test will detect a deficiency in AAT unexpectedly when it is done for a different purpose In those cases follow-up testing for AAT may confirm a deficiency of the protein even if there are no signs or symptoms of disease

Don t smoke Taking care of your lungs can increase your lifespan and delay the onset of emphysema Avoid lung irritants such as dust and fumes get regular vaccinations to protect against pneumococcal pneumonia and Haemophilus influenzae type b infections for example and an annual influenza shot get prompt medical attention for lung infections and get regular exercise to help maintain lung function Work with your healthcare practitioner to determine what steps will help you take care of yourself

It is thought to be one of the most frequent genetic deficiencies in Caucasians The American Lung Association estimates that as many as 100 000 people in the U S are born with AAT deficiency each year and that as many as 25 million Americans are carriers of at least one deficient gene AAT is an under diagnosed condition About only 10 of severely deficient individuals have been identified

Usually no The number of tests and the order in which they are done depend upon the laboratory or medical facility performing the testing In most cases the AAT blood test and either the phenotype or genotype test are sufficient In difficult or unusual cases all three tests may be ordered