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
- Patients that smoke regularly develop dyspnea about 10 years earlier when compared to patients who do not smoke.
- Dyspnea occurs with strenuous exercise initially but eventually results in limitation of mild activities with disease progession.
- Other associations include panniculitis and cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis.
- It is important to have a high level of suspicion for AATD in the differential diagnosis as the presentation is very similar to some of the common illnesses such as asthma, COPD, or chronic cough.
- 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
- Patients with alpha1 antitrypsin deficiency may develop emphysema during their third or fourth decade of life, even without a history of smoking. Smoking accelerate progression of emphysema. Alpha1 antitrypsin deficiency is also associated with impaired liver function leading to cirrhosis and liver failure.
- Alpha 1 antitrypsin deficiency is a common cause requiring 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.