An Italian expert consensus on the management of alpha1-antitrypsin deficiency: a comprehensive set of algorithms
Alpha1-antitrypin deficiency (AATD) is a genetic-based risk condition, mainly affecting the lungs and liver. Despite its wide distribution, it is largely underdiagnosed, thus being considered a rare disease, and is consequently managed in ad hoc reference centers. Unfortunately, an easy-to-use algor...
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| Vydáno v: | Panminerva medica Ročník 64; číslo 2; s. 215 |
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| Hlavní autoři: | , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
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Italy
01.06.2022
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| ISSN: | 1827-1898, 1827-1898 |
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| Abstract | Alpha1-antitrypin deficiency (AATD) is a genetic-based risk condition, mainly affecting the lungs and liver. Despite its wide distribution, it is largely underdiagnosed, thus being considered a rare disease, and is consequently managed in ad hoc reference centers. Unfortunately, an easy-to-use algorithm for managing such a complex disease is still lacking.
An expert consensus meeting was conducted among experts in the management of AATD to build a comprehensive algorithm, including diagnosis, monitoring, AAT therapy, rehabilitation and lung transplantation, and liver disease, that could serve as a guide for physicians and treating centers. A panel of AATD specialists evaluated the results of their work.
Diagnosis is the most delicate phase, and awareness about this condition should be raised among GPs. A set of recommendations has been written about the most suitable follow-up visits. Augmentation therapy with AAT may be useful to reduce the progression of emphysema and lung function decline in selected patients. Exercise capacity may be improved by pulmonary rehabilitation and, in selected cases, by lung volume reduction or lung transplantation. Support therapies are needed for those who develop liver disease, and, in selected cases, liver transplantation may be considered. Patients should be carefully educated about their lifestyle, including smoking cessation, body weight control, and reduced alcohol intake.
The proposed algorithm obtained the endorsement of the Italian Society of Pneumology (SIP). However, further studies and additional clinical data are required to confirm the validity of these recommendations. |
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| AbstractList | Alpha1-antitrypin deficiency (AATD) is a genetic-based risk condition, mainly affecting the lungs and liver. Despite its wide distribution, it is largely underdiagnosed, thus being considered a rare disease, and is consequently managed in ad hoc reference centers. Unfortunately, an easy-to-use algorithm for managing such a complex disease is still lacking.
An expert consensus meeting was conducted among experts in the management of AATD to build a comprehensive algorithm, including diagnosis, monitoring, AAT therapy, rehabilitation and lung transplantation, and liver disease, that could serve as a guide for physicians and treating centers. A panel of AATD specialists evaluated the results of their work.
Diagnosis is the most delicate phase, and awareness about this condition should be raised among GPs. A set of recommendations has been written about the most suitable follow-up visits. Augmentation therapy with AAT may be useful to reduce the progression of emphysema and lung function decline in selected patients. Exercise capacity may be improved by pulmonary rehabilitation and, in selected cases, by lung volume reduction or lung transplantation. Support therapies are needed for those who develop liver disease, and, in selected cases, liver transplantation may be considered. Patients should be carefully educated about their lifestyle, including smoking cessation, body weight control, and reduced alcohol intake.
The proposed algorithm obtained the endorsement of the Italian Society of Pneumology (SIP). However, further studies and additional clinical data are required to confirm the validity of these recommendations. Alpha1-antitrypsin deficiency (AATD) is a genetic-based risk condition, mainly affecting the lungs and liver. Despite its wide distribution, it is largely underdiagnosed, thus being considered a rare disease, and is consequently managed in ad-hoc reference centers. Unfortunately, an easy-to-use algorithm for managing such a complex disease is still lacking.BACKGROUNDAlpha1-antitrypsin deficiency (AATD) is a genetic-based risk condition, mainly affecting the lungs and liver. Despite its wide distribution, it is largely underdiagnosed, thus being considered a rare disease, and is consequently managed in ad-hoc reference centers. Unfortunately, an easy-to-use algorithm for managing such a complex disease is still lacking.An expert consensus meeting was conducted among experts in the management of AATD to build a comprehensive algorithm, including diagnosis, monitoring, AAT therapy, rehabilitation and lung transplantation, and liver disease, that could serve as a guide for physicians and treating centers. A panel of AATD specialists evaluated the results of their work.METHODSAn expert consensus meeting was conducted among experts in the management of AATD to build a comprehensive algorithm, including diagnosis, monitoring, AAT therapy, rehabilitation and lung transplantation, and liver disease, that could serve as a guide for physicians and treating centers. A panel of AATD specialists evaluated the results of their work.Diagnosis is the most delicate phase, and awareness about this condition should be raised among GPs. A set of recommendations has been written about the most suitable follow-up visits. Augmentation therapy with AAT may be useful to reduce the progression of emphysema and lung function decline in selected patients. Exercise capacity may be improved by pulmonary rehabilitation and, in selected cases, by lung volume reduction or lung transplantation. Support therapies are needed for those who develop liver disease, and, in selected cases, liver transplantation may be considered. Patients should be carefully educated about their lifestyle, including smoking cessation, body weight control, and reduced alcohol intake.RESULTSDiagnosis is the most delicate phase, and awareness about this condition should be raised among GPs. A set of recommendations has been written about the most suitable follow-up visits. Augmentation therapy with AAT may be useful to reduce the progression of emphysema and lung function decline in selected patients. Exercise capacity may be improved by pulmonary rehabilitation and, in selected cases, by lung volume reduction or lung transplantation. Support therapies are needed for those who develop liver disease, and, in selected cases, liver transplantation may be considered. Patients should be carefully educated about their lifestyle, including smoking cessation, body weight control, and reduced alcohol intake.The proposed algorithm obtained the endorsement of the Italian Society of Pneumology (SIP). However, further studies and additional clinical data are required to confirm the validity of these recommendations.CONCLUSIONSThe proposed algorithm obtained the endorsement of the Italian Society of Pneumology (SIP). However, further studies and additional clinical data are required to confirm the validity of these recommendations. |
| Author | Corsico, Angelo Corda, Luciano Ferrarotti, Ilaria Gatta, Nuccia Balbi, Bruno Benini, Federica |
| Author_xml | – sequence: 1 givenname: Bruno surname: Balbi fullname: Balbi, Bruno email: bruno.balbi@icsmaugeri.it organization: Pulmonary Rehabilitation of the Institute of Veruno, Istituti Clinici Scientifici Maugeri IRCCS, Novara, Italy - bruno.balbi@icsmaugeri.it – sequence: 2 givenname: Federica surname: Benini fullname: Benini, Federica organization: Center for diagnosis, monitoring and therapy of alpha1-antitrypsin deficiency, Gastroenterology Unit, Department of Medicine, Spedali Civili, Brescia, Italy – sequence: 3 givenname: Luciano surname: Corda fullname: Corda, Luciano organization: Center for diagnosis, monitoring and therapy of alpha1-antitrypsin deficiency. Respiratory, Medicine Unit, Department of Internal Medicine, Spedali Civili, Brescia, Italy – sequence: 4 givenname: Angelo surname: Corsico fullname: Corsico, Angelo organization: Center for diagnosis of alpha1-antitrypsin hereditary deficiency, Chest Medicine Unit. I.R.C.C.S. Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy – sequence: 5 givenname: Ilaria surname: Ferrarotti fullname: Ferrarotti, Ilaria organization: Center for diagnosis of alpha1-antitrypsin hereditary deficiency, Chest Medicine Unit. I.R.C.C.S. Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy – sequence: 6 givenname: Nuccia surname: Gatta fullname: Gatta, Nuccia organization: Patients' association Associazione Nazionale Alfa1-At per la tutela dei pazienti con Deficit di Alfa1-antitripsina, Sarezzo, Brescia, Italy |
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