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