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New England Journal of Medicine article says Alpha-1 often unrecognized, makes clinical practice recommendations

Alpha-1 Antitrypsin Deficiency remains an often-unrecognized condition, six years after the American Thoracic Society and the European Respiratory Society published their recommended guidelines on Alpha-1 testing in the journal Chest, according to an article published today in The New England Journal of Medicine.

Co-authors of the article are Edwin K. Silverman, MD, PhD, of Brigham and Women’s Hospital, Boston, and Harvard Medical School, and Robert A. Sandhaus, MD, PhD, of National Jewish Health, Denver.

Silverman is a member of the Board of the Alpha-1 Foundation. Sandhaus is the clinical director of the Foundation and medical director of AlphaNet.

Some of the authors’ conclusions and clinical recommendations for Alpha-1, which is referred to as “AAT deficiency” in the article:

“AAT deficiency is often unrecognized and may lead to COPD and severe liver disease. AAT deficiency can be readily diagnosed by measurement of the serum or plasma protein level, which should be confirmed by assessing the genotype or protein phenotype when AAT levels are below the normal range. In patients with AAT deficiency, close monitoring for the development or progression of lung disease or liver disease (among those with at-risk genotypes) is required.”

Complete article