Alpha-1 Family Testing

Genetics of Alpha-1

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

The Alpha-1 Family Tree

One example of how Alpha-1 may impact immediate family members:

Family tree diagram

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

Arriving at an accurate diagnosis of AATD can be a complex journey
90 Percent

It is estimated that more than 90% of patients living with AATD have not been properly diagnosed.12

34 Percent

Only 34% of AATD patients reported a correct diagnosis by the first physician they saw.4

7.8 1

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 Percent

43% of AATD patients reported seeing at least 3 physicians before receiving a correct diagnosis.4

AATD is hereditary and family testing is recommended

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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