Clinical Genetics do not usually see these patients in the Genetics clinic, unless there are additional issues that require bespoke counselling.
Non-genetic specialists (including GPs) can request testing for AATD sent directly to Clinical Biochemistry (Gold/Yellow Top requested on ICE System). See the Blood Sciences User Guide for up-to-date advice on sample requirements.
* Before requesting this test, please check to ensure that the patient has not been tested before. The results of these genetic tests will not change over time, and so repetition is of no value.
Alpha-1-Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is one of the most common metabolic disorders in people of northern European heritage, with an estimated prevalence of ~1 in 2,000 – 5,000.
The most common associated complications are chronic lung disease (e.g. emphysema and bronchiectasis) and liver dysfunction.
AATD is an autosomal recessive disorder. It is estimated that ~1 in 20 of us are carriers of AATD. Carriers of AATD are not expected to be at an increased risk of liver or lung disease.
The most common associated complications are chronic lung disease (e.g. emphysema and bronchiectasis) and liver dysfunction.
AATD is an autosomal recessive disorder. It is estimated that ~1 in 20 of us are carriers of AATD. Carriers of AATD are not expected to be at an increased risk of liver or lung disease.