Alpha 1-antitrypsin deficiency natural history, complications, and prognosis

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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

If left untreated, not all patients with deficient gene develop symptomatic emphysema or cirrhosis. In symptomatic patients, the median time between observation of symptoms and diagnosis is approximately 8 years. The symptoms of alpha1-antitrypsin deficiency (AATD) in the first two decades of life are mainly of associated liver disease progressing to pulmonary manifestations appear later in life. Emphysema is seen in non-smokers in the fifth decade of life and during the fourth decade of life in smokers. Less common associations are panniculitis and cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis. The most common cause of death is emphysema. Chronic liver disease is the second most common cause of death. Common complications of AATD include pneumothorax, pneumonia, acute exacerbation of airflow obstruction, respiratory failure. Prognosis depends on how patients are identified. Patients identified as a result of screening often have excellent prognosis. Those identified because of their symptoms have poor prognosis.

Natural History

Complications

Common complications of AATD include:[3]

Prognosis

Prognosis depends on how patients are identified. Patients identified as a result of screening often have excellent prognosis. Those identified because of their symptoms have poor prognosis.[1][2][3]

Features associated with poor prognosis include:

References

  1. 1.0 1.1 Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG (1988). "Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms". Am. Rev. Respir. Dis. 138 (2): 327–36. doi:10.1164/ajrccm/138.2.327. PMID 3264124.
  2. 2.0 2.1 "Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group". Am. J. Respir. Crit. Care Med. 158 (1): 49–59. 1998. doi:10.1164/ajrccm.158.1.9712017. PMID 9655706.
  3. 3.0 3.1 3.2 Stoller JK, Tomashefski J, Crystal RG, Arroliga A, Strange C, Killian DN, Schluchter MD, Wiedemann HP (2005). "Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry". Chest. 127 (4): 1196–204. doi:10.1378/chest.127.4.1196. PMID 15821195.



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