RESUMEN

El déficit de alfa-1 antitripsina (AAT) es una condición hereditaria rara y raramente diagnosticada en todo el mundo, incluida Argentina. El infradiagnóstico es fundamentalmente debido a que muchos médicos desconocen su existencia, diagnóstico y tratamiento. Por ello, la Asociación Argentina de Medicina Respiratoria encomendó a un grupo de expertos la elaboración de la presente normativa. La AAT es una glicoproteína secretada por el hígado, muy abundante en sangre, tejidos y fluidos corporales, cuya función principal consiste en inhibir la elastasa del neutrófilo y otras serin proteasas, confiriendo al suero humano más del 90% de su capacidad antiproteasa. El déficit de AAT deriva de mutaciones del gen de la SERPINA1, y se manifiesta clínicamente por enfisema pulmonar, cirrosis hepática y, con menor frecuencia, por paniculitis, vasculitis sistémicas y posiblemente otras enfermedades. El déficit grave de AAT afecta mayoritariamente a individuos de raza caucasiana y tiene su máxima prevalencia (1:2.000-1:5.000 individuos) en el norte, oeste y centro de Europa. En EEUU y Canadá, la prevalencia es de 1: 5.000-10.000, y es 5 veces menor en países latinoamericanos, incluida Argentina, donde se estima que puede haber unos 18.000 individuos con genotipos deficientes graves SZ y ZZ, la inmensa mayoría sin diagnosticar. Sospechar la enfermedad resulta clave para medir la concentración sérica de AAT y completar el diagnóstico con la determinación del fenotipo o genotipo ante concentraciones bajas. La detección de casos permite la puesta en práctica del consejo genético, el chequeo de familiares consanguíneos y, en casos seleccionados, la aplicación de terapia sustitutiva.

The alpha-1 antitrypsin (AAT) deficiency is a rare hereditary condition which is rarely diagnosed in the world, including Argentina. Underdiagnosis is mainly due to lack of knowledge of its diagnosis and treatment by many physicians. For this reason, the Argentine Association of Respiratory Medicine convened a group of experts to develop the present guidelines. AAT is a glycoprotein secreted by the liver; it reaches high levels in blood, body tissues and fluids. Its main function is to inhibit the neutrophil elastase and other serum proteases providing 90% of human serine antiprotease activity. The AAT deficiency is produced by mutations of the SERPINA1 gene. Its clinical manifestations are pulmonary emphysema, liver cirrhosis, and less often panniculitis, systemic vasculitis and possibly other conditions. The severe AAT deficiency affects mainly Caucasian individuals. The highest prevalence, ranging from 1 in 2000 to 1 in 5000 population is observed in northern, western and central Europe. In the USA and Canada, the prevalence varies from 1 in 5000 to 1 in 10000 population. It is 5 times less frequent in Latin American countries. It is estimated that in Argentina there may be 18000 cases with severe deficiency of SZ y ZZ genotypes, most of them undiagnosed. It is crucial to suspect the disease in order to measure the serum AAT concentration, and, if the concentrations are low, to confirm the diagnosis with the phenotype or genotype determinations. Case detection allows genetic advice, control of blood-related relatives and in selected cases, replacement therapy.

Asunto(s)

RESUMEN

El déficit de alfa-1 antitripsina (AAT) es una condición hereditaria rara y raramente diagnosticada en todo el mundo, incluida Argentina. El infradiagnóstico es fundamentalmente debido a que muchos médicos desconocen su existencia, diagnóstico y tratamiento. Por ello, la Asociación Argentina de Medicina Respiratoria encomendó a un grupo de expertos la elaboración de la presente normativa. La AAT es una glicoproteína secretada por el hígado, muy abundante en sangre, tejidos y fluidos corporales, cuya función principal consiste en inhibir la elastasa del neutrófilo y otras serin proteasas, confiriendo al suero humano más del 90% de su capacidad antiproteasa. El déficit de AAT deriva de mutaciones del gen de la SERPINA1, y se manifiesta clínicamente por enfisema pulmonar, cirrosis hepática y, con menor frecuencia, por paniculitis, vasculitis sistémicas y posiblemente otras enfermedades. El déficit grave de AAT afecta mayoritariamente a individuos de raza caucasiana y tiene su máxima prevalencia (1:2.000-1:5.000 individuos) en el norte, oeste y centro de Europa. En EEUU y Canadá, la prevalencia es de 1: 5.000-10.000, y es 5 veces menor en países latinoamericanos, incluida Argentina, donde se estima que puede haber unos 18.000 individuos con genotipos deficientes graves SZ y ZZ, la inmensa mayoría sin diagnosticar. Sospechar la enfermedad resulta clave para medir la concentración sérica de AAT y completar el diagnóstico con la determinación del fenotipo o genotipo ante concentraciones bajas. La detección de casos permite la puesta en práctica del consejo genético, el chequeo de familiares consanguíneos y, en casos seleccionados, la aplicación de terapia sustitutiva.(AU)

The alpha-1 antitrypsin (AAT) deficiency is a rare hereditary condition which is rarely diagnosed in the world, including Argentina. Underdiagnosis is mainly due to lack of knowledge of its diagnosis and treatment by many physicians. For this reason, the Argentine Association of Respiratory Medicine convened a group of experts to develop the present guidelines. AAT is a glycoprotein secreted by the liver; it reaches high levels in blood, body tissues and fluids. Its main function is to inhibit the neutrophil elastase and other serum proteases providing 90% of human serine antiprotease activity. The AAT deficiency is produced by mutations of the SERPINA1 gene. Its clinical manifestations are pulmonary emphysema, liver cirrhosis, and less often panniculitis, systemic vasculitis and possibly other conditions. The severe AAT deficiency affects mainly Caucasian individuals. The highest prevalence, ranging from 1 in 2000 to 1 in 5000 population is observed in northern, western and central Europe. In the USA and Canada, the prevalence varies from 1 in 5000 to 1 in 10000 population. It is 5 times less frequent in Latin American countries. It is estimated that in Argentina there may be 18000 cases with severe deficiency of SZ y ZZ genotypes, most of them undiagnosed. It is crucial to suspect the disease in order to measure the serum AAT concentration, and, if the concentrations are low, to confirm the diagnosis with the phenotype or genotype determinations. Case detection allows genetic advice, control of blood-related relatives and in selected cases, replacement therapy.(AU)

RESUMEN

Since morbidity, mortality and socioeconomic costs from Chronic Obstructive Pulmonary Disease (COPD) are widely increasing, a group of respiratory medicine specialists was summoned by the AAMR to update basic knowledge on COPD and to issue recommendations for its prevention, diagnosis and treatment. The authors review the definition of COPD together with current knowledge on pathophysiology. Clinical presentation, functional evaluation and imaging are summarized. Early diagnosis through pulmonary function tests -mainly spirometry- and the role of smoking cessation are stressed. Smoking cessation strategies are described as well as pharmacological and non-pharmacological treatment. Long acting bronchodilators are considered the first pharmacological option for treatment due to its effectiveness and patient compliance. Inhaled corticosteroids are indicated in combination with long-acting bronchodilators in patients who present persistent airway obstruction associated with frequent exacerbations since they reduce their number although further studies are needed to confirm their cost/benefit. Annual influenza vaccination is recommended in all patients. In the non-pharmacological section, surgery for emphysema is suggested in very specific cases. Respiratory rehabilitation is a useful tool for patients with daily activities limitation. Long-term oxygen therapy at home improves survival in patients with severe chronic hypoxemia. Non-invasive home ventilation in chronic patients has limited indications in specific subgroups. Acute exacerbations should be aggressively treated with bronchodilators, oxygen, antibiotics, corticosteroids and eventually mechanical ventilation, as invasive as not invasive respiratory support. The importance of public education as well as of individual patients and their families is deemed essential in the prevention and treatment of the disease.

Asunto(s)

RESUMEN

La enfermedad pulmonar obstructiva crónica (EPOC) está aumentando marcadamente su morbimortalidad, costos e indicadores epidemiológicos. Por ello la Asociación Argentina de Medicina Respiratoria (AAMR) convocó a un grupo de especialistas para actualizar conocimientos básicos y efectuar recomendaciones para su diagnóstico, prevención y tratamiento. Se revisan definición, avances en fisiopatología, presentación clínica, diagnóstico por imágenes y evaluación funcional. Se enfatiza su diagnóstico temprano mediante exploración funcional -esencialmente espirometría- y la prevención a través de la cesación del tabaquismo. Se describen estrategias para dejar de fumar, tratamiento farmacológico y no farmacológico. La administración de broncodilatadores, preferentemente de acción prolongada, es la primera opción de tratamiento farmacológico. Los corticoides inhalados se indican en combinación con los broncodilatadores en pacientes con obstrucción al flujo aéreo persistente asociada con exacerbaciones frecuentes, si bien se requieren estudios que confirmen su relación costo/beneficio. La vacuna antigripal es recomendada en todos los pacientes. Con respecto a las intervenciones no farmacológicas, la cirugía del enfisema solo se recomienda en circunstancias especiales. La rehabilitación respiratoria es una herramienta útil en pacientes con limitación en la actividad física habitual. La oxígenoterapia crónica domiciliaria mejora la supervivencia en pacientes con hipoxemia crónica grave. La ventilación no invasiva domiciliaria fuera de las exacerbaciones, tiene indicaciones en pacientes seleccionados. Las exacerbaciones agudas deben tratarse con broncodilatadores, oxígeno, corticoides, antibióticos y, bajo ciertas circunstancias, asistencia respiratoria mecánica tanto no invasiva como invasiva. El papel de la educación pública, del paciente y su familia, es considerada esencial en la prevención y tratamiento.

Since morbidity, mortality and socioeconomic costs from Chronic Obstructive Pulmonary Disease (COPD) are widely increasing, a group of respiratory medicine specialists was summoned by the AAMR to update basic knowledge on COPD and to issue recommendations for its prevention, diagnosis and treatment. The authors review the definition of COPD together with current knowledge on pathophysiology. Clinical presentation, functional evaluation and imaging are summarized. Early diagnosis through pulmonary function tests -mainly spirometry- and the role of smoking cessation are stressed. Smoking cessation strategies are described as well as pharmacological and non-pharmacological treatment. Long acting bronchodilators are considered the first pharmacological option for treatment due to its effectiveness and patient compliance. Inhaled corticosteroids are indicated in combination with long-acting bronchodilators in patients who present persistent airway obstruction associated with frequent exacerbations since they reduce their number although further studies are needed to confirm their cost/benefit. Annual influenza vaccination is recommended in all patients. In the non-pharmacological section, surgery for emphysema is suggested in very specific cases. Respiratory rehabilitation is a useful tool for patients with daily activities limitation. Long-term oxygen therapy at home improves survival in patients with severe chronic hypoxemia. Non-invasive home ventilation in chronic patients has limited indications in specific subgroups. Acute exacerbations should be aggressively treated with bronchodilators, oxygen, antibiotics, corticosteroids and eventually mechanical ventilation, as invasive as not invasive respiratory support. The importance of public education as well as of individual patients and their families is deemed essential in the prevention and treatment of the disease.

Asunto(s)

RESUMEN

La enfermedad pulmonar obstructiva crónica (EPOC) está aumentando marcadamente su morbimortalidad, costos e indicadores epidemiológicos. Por ello la Asociación Argentina de Medicina Respiratoria (AAMR) convocó a un grupo de especialistas para actualizar conocimientos básicos y efectuar recomendaciones para su diagnóstico, prevención y tratamiento. Se revisan definición, avances en fisiopatología, presentación clínica, diagnóstico por imágenes y evaluación funcional. Se enfatiza su diagnóstico temprano mediante exploración funcional -esencialmente espirometría- y la prevención a través de la cesación del tabaquismo. Se describen estrategias para dejar de fumar, tratamiento farmacológico y no farmacológico. La administración de broncodilatadores, preferentemente de acción prolongada, es la primera opción de tratamiento farmacológico. Los corticoides inhalados se indican en combinación con los broncodilatadores en pacientes con obstrucción al flujo aéreo persistente asociada con exacerbaciones frecuentes, si bien se requieren estudios que confirmen su relación costo/beneficio. La vacuna antigripal es recomendada en todos los pacientes. Con respecto a las intervenciones no farmacológicas, la cirugía del enfisema solo se recomienda en circunstancias especiales. La rehabilitación respiratoria es una herramienta útil en pacientes con limitación en la actividad física habitual. La oxígenoterapia crónica domiciliaria mejora la supervivencia en pacientes con hipoxemia crónica grave. La ventilación no invasiva domiciliaria fuera de las exacerbaciones, tiene indicaciones en pacientes seleccionados. Las exacerbaciones agudas deben tratarse con broncodilatadores, oxígeno, corticoides, antibióticos y, bajo ciertas circunstancias, asistencia respiratoria mecánica tanto no invasiva como invasiva. El papel de la educación pública, del paciente y su familia, es considerada esencial en la prevención y tratamiento.(AU)

Since morbidity, mortality and socioeconomic costs from Chronic Obstructive Pulmonary Disease (COPD) are widely increasing, a group of respiratory medicine specialists was summoned by the AAMR to update basic knowledge on COPD and to issue recommendations for its prevention, diagnosis and treatment. The authors review the definition of COPD together with current knowledge on pathophysiology. Clinical presentation, functional evaluation and imaging are summarized. Early diagnosis through pulmonary function tests -mainly spirometry- and the role of smoking cessation are stressed. Smoking cessation strategies are described as well as pharmacological and non-pharmacological treatment. Long acting bronchodilators are considered the first pharmacological option for treatment due to its effectiveness and patient compliance. Inhaled corticosteroids are indicated in combination with long-acting bronchodilators in patients who present persistent airway obstruction associated with frequent exacerbations since they reduce their number although further studies are needed to confirm their cost/benefit. Annual influenza vaccination is recommended in all patients. In the non-pharmacological section, surgery for emphysema is suggested in very specific cases. Respiratory rehabilitation is a useful tool for patients with daily activities limitation. Long-term oxygen therapy at home improves survival in patients with severe chronic hypoxemia. Non-invasive home ventilation in chronic patients has limited indications in specific subgroups. Acute exacerbations should be aggressively treated with bronchodilators, oxygen, antibiotics, corticosteroids and eventually mechanical ventilation, as invasive as not invasive respiratory support. The importance of public education as well as of individual patients and their families is deemed essential in the prevention and treatment of the disease.(AU)

Asunto(s)

Asunto(s)

RESUMEN

Due to the increase in morbidity and mortality from Chronic Obstructive Pulmonary Disease (COPD), a group of chest physicians updates the basic knowledge on COPD since the last Consensus in 1994 in order to prepare guidelines for its diagnosis, prevention and treatment. The authors review the definition of COPD together with the most recent information on its pathophysiology. The clinical presentation is summarized together with functional evaluation and imaging. Early diagnosis by means of functional testing (i.e., spirometry) is stressed, emphasizing smoking cessation as the only measure that has been shown to alter the outcome of the disease. Smoking cessation strategies are described as well as pharmacological and non-pharmacological treatment. In the pharmacological section, the use of inhaled bronchodilators (anticholinergic, beta 2 adrenergic agonists or both) is considered the first option for treatment. Long acting bronchodilators improve patient compliance and treatment effectiveness. Inhaled corticosteroids are indicated for patients with severe airways obstruction and known response to corticosteroids. These agents can diminish the number of exacerbations. Annual influenza vaccination is recommended in all patients. In the non-pharmacological section, surgery for emphysema is suggested in particular cases. Rehabilitation, including exercise training, kinesitherapy and nutrition, is a useful tool for patients who are physically disabled. Long-term oxygen therapy at home improves survival in patients with severe chronic hypoxemia. Other therapeutic interventions such as non-invasive home ventilation have specific indications. Acute exacerbations must be aggressively treated with oxygen, corticosteroids, antibiotics, combination of bronchodilators, and eventually respiratory support. The role of public education of the patients and their families is essential in the prevention and treatment of the disease.

Asunto(s)

RESUMEN

Due to the increase in morbidity and mortality from Chronic Obstructive Pulmonary Disease (COPD), a group of chest physicians updates the basic knowledge on COPD since the last Consensus in 1994 in order to prepare guidelines for its diagnosis, prevention and treatment. The authors review the definition of COPD together with the most recent information on its pathophysiology. The clinical presentation is summarized together with functional evaluation and imaging. Early diagnosis by means of functional testing (i.e., spirometry) is stressed, emphasizing smoking cessation as the only measure that has been shown to alter the outcome of the disease. Smoking cessation strategies are described as well as pharmacological and non-pharmacological treatment. In the pharmacological section, the use of inhaled bronchodilators (anticholinergic, beta 2 adrenergic agonists or both) is considered the first option for treatment. Long acting bronchodilators improve patient compliance and treatment effectiveness. Inhaled corticosteroids are indicated for patients with severe airways obstruction and known response to corticosteroids. These agents can diminish the number of exacerbations. Annual influenza vaccination is recommended in all patients. In the non-pharmacological section, surgery for emphysema is suggested in particular cases. Rehabilitation, including exercise training, kinesitherapy and nutrition, is a useful tool for patients who are physically disabled. Long-term oxygen therapy at home improves survival in patients with severe chronic hypoxemia. Other therapeutic interventions such as non-invasive home ventilation have specific indications. Acute exacerbations must be aggressively treated with oxygen, corticosteroids, antibiotics, combination of bronchodilators, and eventually respiratory support. The role of public education of the patients and their families is essential in the prevention and treatment of the disease.