Medication Summary
The most important health intervention for a person with AAT deficiency (AATD) is avoiding cigarette smoking. Smoking clearly advances the progression of emphysema in severely deficient individuals by as much as 15 years over their nonsmoking counterparts.
Airflow obstruction and symptoms resulting from AATD can be treated in a manner similar to emphysema. Bronchodilators may provide relief of some symptoms. Use antibiotics to treat bacterial complications, including pneumonia or purulent bronchitis. Neither bronchodilators nor antibiotics demonstrate any effect on disease progression. Likewise, corticosteroids may provide some short-term relief, but they have no proven long-term benefit in inhaled or oral preparations. Because of their long-term adverse effects, avoid oral steroids. For more information, see Emphysema.
Prescribe oxygen if patients are hypoxemic at rest, with activity, or during sleep.
Consider replacement (or augmentation) therapy to slow the progression of emphysema. At present, IV augmentation therapy is the only FDA-approved treatment specific for AATD. It is most clearly indicated for patients with moderate degrees of airflow obstruction (FEV1 35-65% of predicted). Three preparations are available. Although purifications and/or preparations differ, all are equivalent, and none have been a cause of hepatitis or HIV infection. Each is approved at the same dose and administration, that is, 60 mg/kg/wk given IV. See the Treatment section for more detail.
Respiratory enzymes
Class Summary
These drugs are used for long-term replacement in individuals with clinically demonstrable panacinar emphysema.
Alpha1-proteinase inhibitor (Prolastin-C, Aralast NP, Glassia, Zemara)
This is a sterile, stable, lyophilized preparation of purified human alpha1-antiprotease inhibitor prepared from pooled human plasma by using a cold alcohol fractionation process followed by further purification steps. Each unit of plasma is tested for HIV, hepatitis B, and hepatitis C before inclusion in the product. The product is treated with a solvent detergent mixture to inactivate viral agents to reduce the potential risk of infectious-agent transmission. No cases of viral infections have been attributed to the product. It is indicated as replacement (or augmentation) for normal serum alpha1-antiprotease to prevent progression of emphysema in patients with congenital deficiency of AAT with clinically evident emphysema.
These drugs have been approved for use in the United States.
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Close-up chest radiograph of the right lower zone of a 39-year-old woman with alpha1-antitrypsin deficiency (AATD). Normal lung markings are absent in the costophrenic angle. Some lung markings are present in the pericardiac region, but even these are diminished.
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CT scan of the right middle and right lower lobes in a 38-year-old patient with alpha1-antitrypsin deficiency (AATD). Entire middle lobe and much of the lower lobe are emphysematous; normal lung structures have been replaced by abnormal airspaces. Only the posterior portions of the right lower lobe maintain a normal architecture.
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Graph outlines alpha1-antitrypsin levels and risk of lung disease for the 5 most common phenotypes of alpha1-antitrypsin deficiency (AATD). Dashed line at 11 mmol/L (80 mg/mL) represents the threshold level below which emphysema is common.
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Breath sound assessment. Video courtesy of Therese Canares, MD, and Jonathan Valente, MD, Rhode Island Hospital, Brown University.
