Alpha 1-antitrypsin deficiency history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Alpha 1-antitrypsin deficiency (A1AD) may be slow to manifest in symptom onset in newborns. As a patient ages, liver dysfunction and deterioration will occur.
Symptoms
Symptoms of alpha-1 antitrypsin deficiency include:
- Shortness of breath
- Wheezing
- Rhonchi rales may be present and appear to be recurring respiratory infections (but isn't)
- Obstructive asthma that does not respond to treatment
Individuals with alpha-1 may develop emphysema during their thirties or forties, without a history of significant smoking (although smoking greatly increases the risk for emphysema). A1AD also causes impaired liver function in some patients and may lead to cirrhosis and liver failure (15%). It is the leading cause of liver transplantation in newborns. [1] [2] [3] [4] [5] [6]
References
- ↑ American Thoracic Society, Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency, Am Rev Respir Dis 1989; 140: 1494-1497.
- ↑ Eriksson, S. Alpha 1 – antitrypsin Deficiency: Lessons Learned from the Bedside to the Gene and Back Again: Historic Perspectives, Chest 1989; 95: 181-189. PMID 2642407
- ↑ Rovner, M.S., Stoller, J.K., Treatment of alpha-1 antitrypsin deficiency, in UpToDate, January 12, 1998.
- ↑ Stoller, J.K., Clinical Features and Natural History of Severe alpha-1 Antitrypsin Deficiency, Chest 1997; 111: 123s-128s. PMID 9184559
- ↑ Stoller, J.K., Extrapulmonary manifestations of alpha-1 antitrypsin deficiency, in UpToDate, March 13, 1997.
- ↑ Stoller, J.K., Clinical manifestations and natural history of alpha-1 antitrypsin deficiency, in UpToDate, January 3, 1997.