Clinical and functional characteristics of individuals with alpha‑1 antitrypsin deficiency: EARCO international registry

Trial registration www. clini caltr ials. gov (ID: NCT04180319)Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. Methods The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022. Results A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). Conclusions EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function.GrifolsCSL BehringKamadapH PharmaTakeda to the European Respiratory Society (ERS)

Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO

Background The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is frequent in Spain. Method Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, PI*SZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PI*ZZ and PI*SZ patients. Results 409 patients were included (53.8% men) with a mean±SD age of 53.5±15.9 years. Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 chronic obstructive pulmonary disease (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Patients with the PI*SZ genotype were younger, more frequently non-index cases and had a lower frequency of respiratory diseases except asthma compared with PI*ZZ patients. Among patients with respiratory diseases, PI*SZ individuals were significantly older both at onset of symptoms and at diagnosis; only asthma was more frequent in PI*SZ than in PI*ZZ individuals. Twelve PI*SZ patients (15.4%) received augmentation therapy compared with 94 PI*ZZ patients (66.2%; p<0.001). Conclusions There is a high prevalence of PI*SZ in Spain. Patients with the PI*SZ genotype were older at symptom onset and diagnosis and had less severe lung disease compared with PI*ZZ patients. The prevalence of asthma was higher in PI*SZ, and up to 15% of PI*SZ patients received augmentation therapy.GrifolsCSL BehringKamadapH PharmaTakeda Pharmaceutical Company Lt

Alpha-1 antitrypsin Pi*SZ genotype: Estimated prevalence and number of SZ subjects worldwide

The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures in patients and relatives with this congenital disorder, the objective of this study was to update the prevalence of the SZ genotype to achieve accurate estimates of the number of Pi*SZ subjects worldwide, based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) selection of studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals. Studies fulfilling these criteria were used to develop tables and maps with an inverse distance-weighted (IDW) interpolation method, to provide numerical and geographical information of the Pi*SZ distribution worldwide. A total of 262 cohorts from 71 countries were included in the analysis. With the data provided by these cohorts, a total of 1,490,816 Pi*SZ were estimated: 708,792 in Europe; 582,984 in America and Caribbean; 85,925 in Africa; 77,940 in Asia; and 35,176 in Australia and New Zealand. Remarkably, the IDW interpolation maps predicted the Pi*SZ prevalence throughout the entire world even in areas lacking real data. These results may be useful to plan strategies for future research, diagnosis, and management of affected individuals

Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO

Background: The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is frequent in Spain. Method: Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, PI*SZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PI*ZZ and PI*SZ patients. Results: 409 patients were included (53.8% men) with a mean±sd age of 53.5±15.9 years. Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 chronic obstructive pulmonary disease (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Patients with the PI*SZ genotype were younger, more frequently non-index cases and had a lower frequency of respiratory diseases except asthma compared with PI*ZZ patients. Among patients with respiratory diseases, PI*SZ individuals were significantly older both at onset of symptoms and at diagnosis; only asthma was more frequent in PI*SZ than in PI*ZZ individuals. Twelve PI*SZ patients (15.4%) received augmentation therapy compared with 94 PI*ZZ patients (66.2%; p<0.001). Conclusions: There is a high prevalence of PI*SZ in Spain. Patients with the PI*SZ genotype were older at symptom onset and diagnosis and had less severe lung disease compared with PI*ZZ patients. The prevalence of asthma was higher in PI*SZ, and up to 15% of PI*SZ patients received augmentation therapy.Acknowledgements: The Spanish registry would like to acknowledge the support of the EARCO Steering committee: Christian Clarenbach and Marc Miravitlles (co-chairs), Robert Bals, Jan Stolk, Joanna Chorostowska-Wynimko, Karen O’Hara, Marion Wilkens, José Luis López-Campos, Alice M. Turner, Ilaria Ferrarotti, Gerry McElvaney and Robert A. Stockley

Chronic obstructive pulmonary disease in high resolution health care center

Objetivos: a) Describir el perfil clínico del paciente con enfermedad pulmonar obstructiva crónica (EPOC) atendido en una Unidad de Hospitalización polivalente y, b) definir las características clínicas y funcionales que determinan la enfermedad según la fase evolutiva. Pacientes y métodos: estudio prospectivo; período de mayo de 2008 a enero 2011. Ámbito: Unidad polivalente del Centro de Alta Resolución el Toyo. Almería. Casuística: pacientes con EPOC atendidos en el Servicio de Urgencias perteneciente a la Unidad Polivalente. Metodología: hoja de recogida de datos con las variables sociodemográficas, clínicas, biológicas y terapéuticas. Para el método estadístico se ha utilizado el análisis descriptivo de las variables. Resultados: Se han incluido 224 pacientes, edad media de 74 años; (90% varones); el 85.1% en tratamiento previo con la combinación de glucocorticoides y broncodilatadores de acción prolongada; 46.8% eran fumadores activos, en 52.2% estancia observacional y 32% en estancia corta. El 93.2% presentó aumento de disnea; el 53.2% presentó fiebre, 45% cianosis y el 59.5 % que mostraban condensación pulmonar permanecen en la corta estancia hospitalaria. Conclusiones: algunas características clínico-biológicas y funcionales permiten diferenciar a cada grupo y predecir la estancia hospitalaria.Objective: To describe the clinical profile of the patient with Chronic Obstructive Pulmonary Disease (COPD) admitted for hospitalization to the Multi Purpose Service (MPS)of the hospital and to report the clinical and functional characteristics of COPD at the different phases of the disease. Patients and methods: A prospective study was performed between May 2008 and January 2011, in the setting of the Multi Purpose Service of the Centre of High Resolution of El Toyo, Almería. We studied patients with COPD admitted to the Emergency Service of the MPS of the hospital. We used a data collection form with all the sociodemographic, clinical, biological, and therapeutic variables of the patients. Statistical analysis was carried out using the descriptive analysis of the variables. Results: A total of 224 patients were studied, with a mean age of 74 years (90% of them were men); 85% of the patients were under previous treatment with a combined therapy of glucocorticoids plus long- acting bronchodilators; 46.8% were smokers; 52.2% were in observation stay, and 32% of the patients stayed at short stay at the hospital; 93.2% of the patients showed an increased dypnea; 53.2% presented fever; 45% had cyanosis, and 59.5% which showed condensation stayed at short stay at the hospital. Conclusions: Some of the clinical, biological and functional characteristics of the patients allowed us to differentiate each group and to predict the lengh of the hospital stay

Temas Socio-Jurídicos. Volumen 30 No. 61 Diciembre de 2011

El Centro de Investigaciones Socio-Jurídicas de la UNABse complace en presentar la edición número 61 de su revista Temas Socio-jurídicos, con gran satisfacción y el firme propósito de dar continuidad a un legado que nos dejará nuestro reconocido maestro y entrañable amigo, Laureano Gómez.The Center for Socio-Legal Research of UNAB is pleased to present the 61st edition of its magazine Temas Socio-jurídicos, with great satisfaction and the firm intention of continuing a legacy that our renowned teacher and dear friend, Laureano Gómez, will leave us