Alpha 1-antitrypsin deficiency history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Alpha 1-antitrypsin deficiency (A1AD) may have delayed onset of symptoms newborns. As a patient ages, liver dysfunction and deterioration will occur. The hallmark of AATD is dyspnea. A positive history of dyspnea and liver cirrhosis or chronic hepatitis is suggestive of AATD. The presentation of disease varies depending on the type of mutation associated with AATD. Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, wheezing, rhonchi and rales associated with recurring respiratory infections and obstructive asthma that does not respond to treatment.
Histroy and Symptoms
- The hallmark of AATD is dyspnea. A positive history of dyspnea and liver cirrhosis or chronic hepatitis is suggestive of AATD.[1] [2] [3] [4] [5] [6]
- The presentation of disease varies depending on the type of mutation associated with AATD. The initial symptoms include cough associated with sputum production and wheezing. These symptoms are initially intermittent.
- Dyspnea of AATD is initially associated only with strenuous exercise but eventually limits even mild activities with disease progession.
- Cigarette smoking accelerates development of emphysema in patients with AATD.
- Less common associations are panniculitis and cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis.
- The diagnosis is often missed, as presentation is similar to more common illnesses such as asthma, COPD, or chronic cough. Hence, it is important to have a high level of suspicion and consider AATD in the differential diagnosis.
- 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.
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.