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Alpha-1 antitrypsin (A1AT) deficiency is a hereditary autosomal codominant condition, which occurs from the inheritance of 2 protease inhibitor deficiency alleles of the A1AT gene.17 The combination of these genes determines the severity of the condition.7,19
One example of how Alpha-1 may impact immediate family members:
M alleles M alleles are the normal forms of the gene. If there are 2 M alleles, this means your patient does not have an A1AT deficiency.7,18
S variants This is an abnormal gene, and your patient may be at mild to moderate risk for Alpha-1-related disease or COPD.7,18
Z variants This is an abnormal gene, and your patient is at risk for a serious Alpha-1-related disease. People with 2 Z variants have severe Alpha-1.7,18
NULL variants These variants are very rare. People with NULL variants cannot make any A1AT and are at risk for serious Alpha-1-related disease.7,18
Rare variants According to the American Thoracic Society, over 30 rare variants have been identified that may put patients at risk for Alpha-1–related disease.7 Rare variants make up approximately 5% of Alpha-1 cases.7,18
F variants Dysfunctional variants of A1AT with reduced association with elastase.7
It is estimated that more than 90% of patients living with AATD have not been properly diagnosed.12
Only 34% of AATD patients reported a correct diagnosis by the first physician they saw.4
A retrospective study reported that it took an average of 7.8 years between patients’ initial symptoms and a correct diagnosis of AATD.4
43% of AATD patients reported seeing at least 3 physicians before receiving a correct diagnosis.4
Genetic epidemiology studies indicate that AATD may be one of the most common serious hereditary disorders in the United States.4,10
The American Thoracic Society recommends testing for first-degree relatives (parents, children, siblings) of patients diagnosed with Alpha-1.7
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