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March 23, 2009

Myths and Misconceptions About α1-Antitrypsin Deficiency

Arch Intern Med. 2009;169(6):546-550. doi:10.1001/archinternmed.2009.25

Alpha1-Antitrypsin deficiency (AATD) is a common but underdiagnosed condition1,2 with protean clinical manifestations (eg, emphysema, cirrhosis, hepatoma, panniculitis) and, as a genetic disease, an important potential health impact for the entire family of an affected patient. Since knowledge is emerging and specific therapy currently exists that is rapidly evolving, to miss the diagnosis of AATD denies the opportunity to detect affected individuals and their family members and to offer interventions that may favorably affect the natural history of the disease (eg, smoking avoidance or cessation, avoidance of high-risk occupations,1,3,4 augmentation therapy1). Avoiding such management pitfalls requires enhanced diagnosis of AATD and awareness of state-of-the-art management options. In the context of ongoing efforts to spread awareness of AATD and experience with similar articles that attempt to dispel misunderstandings about other important diseases (eg, heparin-induced thrombocytopenia5), our goal is to articulate and debunk certain myths and misconceptions that impede optimal management of patients with AATD. More specifically, we propose 10 statements that represent myths or misconceptions about AATD that we have heard frequently throughout years of caring for individuals affected by the condition and offer concise, corrective responses.

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