Alpha 1-antitrypsin deficiency overview: Difference between revisions

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==Screening==
==Screening==
According to the Spanish Society of Pneumology and Thoracic Surgery (SEPAR), All COPD patients should be screened for AATD at least once in their lifetime.


==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==

Revision as of 18:30, 5 December 2017

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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 or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells.[1] There are several forms and degrees of deficiency. Severe A1A deficiency causes emphysema and/or COPD in adult life in nearly all people with the condition, various liver diseases in a minority of children and adults, and occasionally more unusual problems.[2] It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and shortens life.

Historical Perspective

Classification

Pathophysiology

Differentiating Alpha 1-antitrypsin deficiency from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

According to the Spanish Society of Pneumology and Thoracic Surgery (SEPAR), All COPD patients should be screened for AATD at least once in their lifetime.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References

  1. Stoller J, Aboussouan L. "Alpha1-antitrypsin deficiency". Lancet. 365 (9478): 2225–36. PMID 15978931.
  2. Needham M, Stockley RA (2004). "α1-antitrypsin deficiency 3: Clinical manifestations and natural history". Thorax. 59: 441–5. PMID 15115878.


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