Related Links
AlphaTest® Kit
Request our complimentary AlphaTest® Kit today.
Alpha-1 as Seen
on PBS
Watch the PBS show about Alpha-1.
Family Testing
Because AAT deficiency is a hereditary disorder, testing of family members – parents, siblings, children – may be recommended for individuals diagnosed with AAT deficiency. Testing of family members is important to determine if they have AAT deficiency or if they are carriers of the disorder.
Carriers with borderline-low levels of AAT usually have enough AAT to protect their lungs from the destructive effects of neutrophil elastase. Most carriers suffer from no pulmonary symptoms. However, they need to follow a healthy lifestyle and be careful about exposure to lung irritants of all types, especially cigarette smoke.
You may recommend genetic and psychological counseling for your patient and their family members. Genetic counseling is important in understanding the impact of this inherited condition, including the need for evaluation of additional family members. Psychological counseling can provide the knowledge and support needed for families who have been diagnosed with a hereditary condition.
References
- American Thoracic Society /European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003; 168:818-900.
