Alpha-1-antitrypsin deficiency

Healthcare/Doctors

Where do I find a center of excellence for alpha-1 antitrypsin deficiency?

As of 2019, more than 80 specialists in the U.S. are listed as Clinical Resource Centers (CRC) for alpha-1 antitrypsin deficiency (AATD) with the Alpha-1 Foundation. You can find the CRC closest to you at www.alpha1.org. In the U.S., you can also call the Alpha-1 Foundation genetic counselor at 800-785-3177 if you have questions about alpha-1 or access to care.

Many people with AATD receive regular care with a lung specialist called a pulmonologist. If you have the ZZ genetic type of AATD, remember to discuss liver screening with your doctor. If you have symptoms of liver disease, or diagnosed liver disease, you may see a liver specialist at a medical center near you, or locate the closest CRC liver specialist on the Alpha-1 Foundation website at https://www.alpha1.org/Healthcare-Providers/Testing-and-Treatment/Finding-an-Alpha-1-Specialist.

References
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What specialist doctors should I see for alpha-1 antitrypsin deficiency?

What should my doctor know about alpha-1 antitrypsin deficiency?

Where can I find a genetic counselor to talk to about alpha-1 antitrypsin deficiency?

What specialist doctors should I see for alpha-1 antitrypsin deficiency?

Many people with alpha-1 antitrypsin deficiency (AATD) receive regular care with a lung specialist called a pulmonologist. If you have the ZZ genetic type of AATD, remember to discuss liver screening with your doctor. If you have symptoms of liver disease, or diagnosed liver disease, you may see a liver specialist at a medical center near you, or locate the closest CRC liver specialist on the Alpha-1 Foundation website at https://www.alpha1.org/Healthcare-Providers/Testing-and-Treatment/Finding-an-Alpha-1-Specialist.

References
What should my doctor know about alpha-1 antitrypsin deficiency?

Your doctor should be aware that alpha-1 antitrypsin deficiency (AATD) can cause lung disease and liver disease. Your personalized screening and treatment recommendations will depend on your exact AATD genetic diagnosis and symptoms. Your doctor may reference the 2016 Guidelines for the treatment and management of alpha-1 at http://journal.copdfoundation.org/jcopdf/id/1115/The-Diagnosis-and-Management-of-Alpha-1-Antitrypsin-Deficiency-in-the-Adult and may reference the Alpha-1 Foundation's guide for healthcare providers at https://www.alpha1.org/Portals/0/Documents/HealthcareProvidersBrochure.pdf .

References
Where can I find a genetic counselor to talk to about alpha-1 antitrypsin deficiency?

Speak to your healthcare provider about a referral to see a genetic counselor near you. In the U.S., the Alpha-1 Foundation provides free telephone-based genetic counseling and you can reach this service by calling 1-800-785-3177. This service is available to anyone who wants more information about alpha-1 antitrypsin deficiency, including those considering genetic testing, people who have received results, family members and healthcare providers. More information can be found at . Genetic counselors can be found on the National Society of Genetic Counselors website.

References

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