Screening and Familial Testing of Patients for α 1 -Antitrypsin Deficiency
| Autor: | Gary S. Rachelefsky, D. Kyle Hogarth |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Pulmonary and Respiratory Medicine
medicine.medical_specialty Evidence-based practice medicine.medical_treatment Population Guidelines as Topic Critical Care and Intensive Care Medicine Pulmonary function testing alpha 1-Antitrypsin Deficiency medicine Humans Psychology Genetic Testing Intensive care medicine education Asthma Sweden COPD education.field_of_study Alpha 1-antitrypsin deficiency business.industry Evidence-based medicine medicine.disease United States Surgery Europe Smoking cessation Cardiology and Cardiovascular Medicine business |
| Zdroj: | Chest. 133:981-988 |
| ISSN: | 0012-3692 |
| DOI: | 10.1378/chest.07-1001 |
| Popis: | alpha(1)-Antitrypsin deficiency (AATD) is an autosomal-codominant genetic disorder that predisposes individuals to the development of liver and lung disease. AATD is greatly underrecognized and underdiagnosed. Early identification allows preventive measures to be taken, the most important of which is the avoidance of smoking (including the inhalation of second-hand smoke) and exposure to environmental pollutants. Early detection also allows careful lung function monitoring and augmentation therapy while the patient still has preserved lung function. Cost factors and controversies have discouraged the initiation of large-scale screening programs of the newborn and adult populations in the United States and Europe (except for Sweden). There are sound medical reasons for targeted screening. Evidence-based recommendations for testing have been published by the American Thoracic Society/European Respiratory Society task force, which take potential social, psychological, and ethical adverse factors into consideration. This review discusses rationales for testing and screening for AATD in asymptomatic individuals, family members, and the general population, weighing benefits against potential psychological, social, and ethical implications of testing. For most, negative issues are outweighed by the benefits of testing. AATD testing should be routine in the management of adults with emphysema, COPD, and asthma with incompletely reversible airflow obstruction. |
| Databáze: | OpenAIRE |
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