Abstract
Alpha-1 antitrypsin (AAT) deficiency (D) is an autosomic codominant genetic condition associated with an increased risk of lung and liver disease. Lung disease is usually seen as an emphysema developing during the 4th or 5th decade, that may be associated with disseminated bronchiectasis, or it may be more similar to a COPD or, more rarely, to asthma. Liver disease can be seen within the first year of life as hepatic cholestasis, or later on during the 5th or 6th decade as a chronic hepatic disorder or liver cirrhosis or even hepatic cancer. Gene-environment interaction is crucial in AATD associated clinical manifestations. The risk of lung diseases is increased manifold in smokers. Life-long non smokers can be asymptomatic and without any evidence of lung disease for the whole life. Diagnosis is based on the determination of AAT plasma levels followed, in the case of values lower than normal, by genotyping. Pharmacological treatment of lung disease (COPD) associated with AATD comprises AAT replacement therapy, i.e. a weekly i.v. infusion of AAT from the blood donor pool. Replacement therapy is considered able to slow the annual decline of lung function, particularly accelerated in AATD. Pulmonary rehabilitation, lung or liver transplantation are the other non-pharmacological options in the management of AATD associated diseases.
| Original language | Italian |
|---|---|
| Journal | Multidisciplinary Respiratory Medicine |
| Volume | 5 |
| Issue number | SUPPL. 3 |
| Publication status | Published - 2010 |
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ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
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Deficit di alfa-1 antitripsina : Diagnosi e terapia. / Balbi, Bruno; Corda, Luciano; Luisetti, Maurizio.
In: Multidisciplinary Respiratory Medicine, Vol. 5, No. SUPPL. 3, 2010.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Deficit di alfa-1 antitripsina
T2 - Diagnosi e terapia
AU - Balbi, Bruno
AU - Corda, Luciano
AU - Luisetti, Maurizio
PY - 2010
Y1 - 2010
N2 - Alpha-1 antitrypsin (AAT) deficiency (D) is an autosomic codominant genetic condition associated with an increased risk of lung and liver disease. Lung disease is usually seen as an emphysema developing during the 4th or 5th decade, that may be associated with disseminated bronchiectasis, or it may be more similar to a COPD or, more rarely, to asthma. Liver disease can be seen within the first year of life as hepatic cholestasis, or later on during the 5th or 6th decade as a chronic hepatic disorder or liver cirrhosis or even hepatic cancer. Gene-environment interaction is crucial in AATD associated clinical manifestations. The risk of lung diseases is increased manifold in smokers. Life-long non smokers can be asymptomatic and without any evidence of lung disease for the whole life. Diagnosis is based on the determination of AAT plasma levels followed, in the case of values lower than normal, by genotyping. Pharmacological treatment of lung disease (COPD) associated with AATD comprises AAT replacement therapy, i.e. a weekly i.v. infusion of AAT from the blood donor pool. Replacement therapy is considered able to slow the annual decline of lung function, particularly accelerated in AATD. Pulmonary rehabilitation, lung or liver transplantation are the other non-pharmacological options in the management of AATD associated diseases.
AB - Alpha-1 antitrypsin (AAT) deficiency (D) is an autosomic codominant genetic condition associated with an increased risk of lung and liver disease. Lung disease is usually seen as an emphysema developing during the 4th or 5th decade, that may be associated with disseminated bronchiectasis, or it may be more similar to a COPD or, more rarely, to asthma. Liver disease can be seen within the first year of life as hepatic cholestasis, or later on during the 5th or 6th decade as a chronic hepatic disorder or liver cirrhosis or even hepatic cancer. Gene-environment interaction is crucial in AATD associated clinical manifestations. The risk of lung diseases is increased manifold in smokers. Life-long non smokers can be asymptomatic and without any evidence of lung disease for the whole life. Diagnosis is based on the determination of AAT plasma levels followed, in the case of values lower than normal, by genotyping. Pharmacological treatment of lung disease (COPD) associated with AATD comprises AAT replacement therapy, i.e. a weekly i.v. infusion of AAT from the blood donor pool. Replacement therapy is considered able to slow the annual decline of lung function, particularly accelerated in AATD. Pulmonary rehabilitation, lung or liver transplantation are the other non-pharmacological options in the management of AATD associated diseases.
KW - Alpha-1 antitrypsin deficiency
KW - Bronchodilator therapy
KW - COPD
KW - Hepatic diseases
KW - Liver transplantation
KW - Lung transplantation
KW - Pulmonary rehabilitation
KW - Replacement therapy
UR - http://www.scopus.com/inward/record.url?scp=77958108555&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77958108555&partnerID=8YFLogxK
M3 - Articolo
AN - SCOPUS:77958108555
VL - 5
JO - Multidisciplinary Respiratory Medicine
JF - Multidisciplinary Respiratory Medicine
SN - 1828-695X
IS - SUPPL. 3
ER -