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Myths and Misconceptions About ₁-Antitrypsin Deficiency

James K. Stoller, MD, MS; Loutfi S. Aboussouan, MD

Arch Intern Med. 2009;169(6):546-550.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Alpha₁-Antitrypsin deficiency (AATD) is a common but underdiagnosed condition^1-2 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 . . . [Full Text of this Article]

MYTH 1: AATD IS RARE (SO I NEED NOT WORRY OR LEARN ABOUT IT)


MYTH 2: I SHOULD ONLY SUSPECT AATD IN INDIVIDUALS OF SCANDINAVIAN DESCENT

MYTH 3: AATD HAS A DISTINCTIVE PRESENTATION, SO DETECTING IT SHOULD BE EASY (IF I WANT TO)

MYTH 4: I CAN RULE OUT AATD IF THE PATIENT HAS NEVER SMOKED

MYTH 5: I CAN RULE OUT AATD IF THE PATIENT'S EMPHYSEMA PREDOMINATELY INVOLVES THE UPPER LUNG ZONES

MYTH 6: TESTING FOR AATD IS COMPLEX AND EXPENSIVE

MYTH 7: BECAUSE NO EFFECTIVE THERAPY EXISTS, THERE IS NO REASON TO MAKE THE DIAGNOSIS OF AATD

MYTH 8: AUGMENTATION THERAPY CAN BE PRESCRIBED FOR VARIOUS DOSING FREQUENCIES WITH EQUAL EFFICACY

MYTH 9: MY PATIENTS WILL BE ADVERSELY AFFECTED BY MY DETECTION OF A GENETIC DISEASE

MYTH 10: EVERYONE WHO HAS AATD WILL DEVELOP EMPHYSEMA

CONCLUSION

AUTHOR INFORMATION


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