Alpha 1-antitrypsin deficiency history and symptoms: Difference between revisions
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==Overview== | ==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. | |||
==Histroy and Symptoms== | ==Histroy and Symptoms== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-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.
Histroy and Symptoms
The hallmark of AATD is Dyspnea. A positive history of dyspnea and liver cirhosis or chronic hepatitis is suggestive of AATD. 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 exertion but as the disease progresses it eventually limits even mild activities. Cigarette smoking can result in accelerated progression of emphysema in patients with AATD. Dyspnea develops about 10 years earlier in alpha1-antitrypsin-deficient individuals who smoke regularly. Less common associations are panniculitis and an increase in the association of cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis. [5] Often this diagnosis is 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. [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.