The American Lung Association estimates there are approximately 100,000 people in the U.S. who are alpha1-antitrypsin (AAT) deficient, which can lead to hereditary emphysema. Up to 95% of people with severe AAT deficiency are undiagnosed, or endure an average delay of 5.7 years between onset of symptoms and diagnosis. If untreated, AAT deficiency can result in emphysema and premature death.
Features that should prompt suspicion of AAT deficiency include:
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Chronic obstructive pulmonary disease (COPD)
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Early onset pulmonary emphysema (age 45 years or less)
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Emphysema prominent in the lower lobes
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Emphysema in the absence of a recognized risk factor
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Family history of AAT deficiency, emphysema, bronchiectasis, liver disease or panniculitis (skin disorder)
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Dyspnea and cough occurring in multiple family members
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Liver disease of unknown cause
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Adults with bronchiectasis without evident etiology
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Patients with asthma whose spirometry fails to return to normal with therapy
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Unexplained panniculitis and anti-proteinase-3-vasculitis (Wegener’s granulomatosis)
The World Health Organization recommends that “all patients with COPD, and adults as well as adolescents with asthma, should be screened once in their lifetime for AAT deficiency, using a quantitative test [i.e. immunoassay]. “Patients with abnormal results on the quantitative test should undergo Pi typing [identification of the phenotype].”
The information provided is not intended to be a substitute for professional medical advice. A licensed healthcare professional should be consulted for diagnosis and treatment of any and all medical conditions.
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