Clinical Guidelines to Help Diagnose and Treat 'Genetic COPD'

The Journal of the COPD Foundation has published new clinical guidelines designed to assist healthcare providers in properly diagnosing and treating Alpha-1 Antitrypsin Deficiency (Alpha-1) in adults.

Alpha-1 is the most common known genetic risk factor for emphysema, and is often referred to as “genetic COPD.” Experts estimate that less than 10% of people with Alpha-1 have been properly diagnosed. The guidelines recommend that everyone with COPD should be tested for Alpha-1, regardless of age or ethnicity; that anyone with unexplained chronic liver disease should be tested for Alpha-1; and that parents, siblings and children as well as extended family members of Alphas or others with an abnormal alpha-1 gene should receive genetic counseling and be offered testing for Alpha-1.

“We believe the Summary of Recommendations of these guidelines is the most efficient tool that busy physicians have ever had to follow best practices in detection, diagnosis and treatment of Alpha-1 in adults,” said Robert Sandhaus, MD, PhD, who co-chaired the guidelines committee.

The guidelines recommend augmentation therapy for all Alphas who have Alpha-1- related lung disease and an FEV1 score of 65 percent or less; and that doctors discuss the potential benefits and costs of augmentation for Alphas with lung disease and an FEV1 score greater than 65%. Augmentation for Alpha-1 carriers is not recommended, Sandhaus noted.

“The new guidelines do not recommend augmentation therapy for individuals with MZ or MS genotypes,” Sandhaus said. “The writers point out that there is simply no evidence that giving augmentation therapy provides medical benefit in this population. That’s not saying that there is evidence that it doesn’t work. That’s saying there is no evidence that it does work.”

Sandhaus pointed out that no study has ever been done on the use of augmentation therapy in carriers.

Clinical Practice Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult are intended to update and simplify a 2003 document from the American Thoracic Society (ATS) and the European Respiratory Society on the diagnosis and management of Alpha-1.

The new clinical guidelines were published in the July issue of Chronic Obstructive Lung Diseases: Journal of the COPD Foundation.

The guidelines committee co-chairs were Sandhaus, clinical director of the Alpha-1 Foundation and executive vice president and medical director of AlphaNet; and Gerard Turino, MD, a former ATS president and a world-renowned Alpha-1 and COPD clinician and researcher.

The writing committee consisted of leading Alpha-1 experts, a bioethicist and a medical librarian: Mark Brantly, MD, Michael Campos, MD, Carroll Cross, MD, Kenneth Goodman, PhD, Kyle Hogarth, MD, Shandra Knight, MS, James Stocks, MD, James Stoller, MD, MS, Charlie Strange, MD, and Jeffrey Teckman, MD. The authors of the guidelines are developing a pocket-sized version for easiest access.

To read the guidelines in the Journal of the COPD Foundation, visit


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