Detección de angioedema hereditario: primer abordaje de diagnóstico por estudios de laboratorio y caracterización de pacientes en Paraguay.
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| Title: | Detección de angioedema hereditario: primer abordaje de diagnóstico por estudios de laboratorio y caracterización de pacientes en Paraguay. |
|---|---|
| Alternate Title: | Detection of hereditary angioedema: first approach to laboratory diagnosis and patient characterization in Paraguay. |
| Authors: | Sanabria, Diana1 dsanabria@iics.una.py, Benegas, Sara1, María Godoy, Ana1, Giménez, Vivian1 |
| Source: | Revista Alergia de Mexico. ene-mar2026, Vol. 73 Issue 1, p40-47. 8p. |
| Subjects: | EDEMA, COMPLEMENT inhibition, ANGIONEUROTIC edema, CLINICAL pathology, MEDICAL needs assessment, THERAPEUTICS, PUBLIC health |
| Geographic Terms: | PARAGUAY |
| Abstract (English): | OBJECTIVE: To establish, at the first time in Paraguay, for the first time in Paraguay, the laboratory diagnosis of HAE and to characterize affected patients. METHODS: An observational, descriptive, and cross-sectional study was conducted from 2023 to 2024 in patients older than one year with clinical symptoms of hereditary angioedema and asymptomatic relatives registered with the AEH-Paraguay Association, and 20 healthy donors. Quantitative C1-INH was determined by radial immunodiffusion and functional C1-INH by ELISA. Clinical and sociodemographic characteristics were evaluated. RESULTS: Forty patients were included: 26 with clinical symptoms of hereditary angioedema and 14 asymptomatic relatives. Fifty-three percent (21/40) were female, and 15/40 were minors (1–16 years). Decreased quantitative and functional C1-INH levels (HAE-1) were observed in 21/40 patients, and decreased functional C1-INH levels (HAE-2) were observed in 4/40. In this group (n = 25), 20 had edema and 5 were asymptomatic relatives; in addition, 6 patients in this group had a previous laboratory diagnosis, and 19 were newly detected cases. The most frequent edemas appeared in the extremities, face, abdomen, and larynx (n = 9). Fifty-six percent (14/25) reported having a deceased relative with a history of edema. Stress and puberty were the main triggering factors, and the median age of onset was 13 years. Six patients reported prophylactic treatment; the median duration of edema-related crises at one year was 6, with a median of 14 days of disability. CONCLUSION: We studied C1-INH in patients with recurrent edema and asymptomatic relatives, detecting 19 new cases and characterizing 25 patients with hereditary angioedema. This is the first diagnostic approach in Paraguay, and we report these initial data, which may be useful for the public health system in developing policies that address the diagnosis and treatment of patients with hereditary angioedema. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | OBJETIVO: Establecer el diagnóstico de angioedema hereditario mediante estudios de laboratorio y caracterizar a los pacientes con esta enfermedad por primera vez en Paraguay. MÉTODOS: Estudio observacional, descriptivo y transversal, emprendido de 2023 a 2024 en pacientes mayores de un año, con síntomas clínicos de angioedema hereditario y familiares asintomáticos registrados en la Asociación AEH-Paraguay, y 20 donadores sanos. Se determinó el C1-INH cuantitativo por inmunodifusión radial y C1-INH funcional por ELISA. Se evaluaron características clínicas y sociodemográficas. RESULTADOS: Se incluyeron 60 pacientes, 40 conformaron el grupo de estudio (26 con síntomas clínicos de angioedema hereditario y 14 familiares asintomáticos) y 20 el de referencia. El 53% (21/40) fueron mujeres y 15/40 eran menores de edad (1–16 años). Se observaron valores de C1-INH cuantitativo y funcional disminuidos (AEH-1) en 21/40 pacientes y 4/40 con C1-INH funcional disminuido (AEH-2). En este grupo (n = 25), 20 tenían edema y 5 eran familiares asintomáticos; además 6 pacientes de este grupo contaban con diagnóstico de laboratorio previo y 19 fueron nuevos casos detectados. Los edemas más frecuentes aparecieron en las extremidades, rostro, abdomen y laringe (n = 9). El 56% (14/25) refirió tener algún familiar fallecido con antecedente de edema. El estrés y la pubertad fueron los principales factores desencadenantes y la edad de inicio tuvo una mediana de 13 años. Seis pacientes refirieron tratamiento profiláctico; las crisis al año reportaron una mediana de 6, y 14 días para incapacidad por edema. CONCLUSIÓN: Estudiamos el C1-INH en pacientes con edema recurrente y familiares asintomáticos, detectando 19 casos nuevos y caracterizando 25 pacientes con angioedema hereditario. Este es el primer abordaje diagnóstico en Paraguay y reportamos los primeros datos pueden ser útiles para el sistema de salud pública en el desarrollo de políticas que contemplen el diagnóstico y tratamiento de pacientes con angioedema hereditario. [ABSTRACT FROM AUTHOR] |
| Copyright of Revista Alergia de Mexico is the property of Coleg. Mexicano de Inmunologia Clinica y Alergia A.C.; Soc. Lat. de Alergia, Asma e Inmunologia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
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| Items | – Name: Title Label: Title Group: Ti Data: Detección de angioedema hereditario: primer abordaje de diagnóstico por estudios de laboratorio y caracterización de pacientes en Paraguay. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Detection of hereditary angioedema: first approach to laboratory diagnosis and patient characterization in Paraguay. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Sanabria%2C+Diana%22">Sanabria, Diana</searchLink><relatesTo>1</relatesTo><i> dsanabria@iics.una.py</i><br /><searchLink fieldCode="AR" term="%22Benegas%2C+Sara%22">Benegas, Sara</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22María+Godoy%2C+Ana%22">María Godoy, Ana</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Giménez%2C+Vivian%22">Giménez, Vivian</searchLink><relatesTo>1</relatesTo> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Revista+Alergia+de+Mexico%22">Revista Alergia de Mexico</searchLink>. ene-mar2026, Vol. 73 Issue 1, p40-47. 8p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22EDEMA%22">EDEMA</searchLink><br /><searchLink fieldCode="DE" term="%22COMPLEMENT+inhibition%22">COMPLEMENT inhibition</searchLink><br /><searchLink fieldCode="DE" term="%22ANGIONEUROTIC+edema%22">ANGIONEUROTIC edema</searchLink><br /><searchLink fieldCode="DE" term="%22CLINICAL+pathology%22">CLINICAL pathology</searchLink><br /><searchLink fieldCode="DE" term="%22MEDICAL+needs+assessment%22">MEDICAL needs assessment</searchLink><br /><searchLink fieldCode="DE" term="%22THERAPEUTICS%22">THERAPEUTICS</searchLink><br /><searchLink fieldCode="DE" term="%22PUBLIC+health%22">PUBLIC health</searchLink> – Name: SubjectGeographic Label: Geographic Terms Group: Su Data: <searchLink fieldCode="DE" term="%22PARAGUAY%22">PARAGUAY</searchLink> – Name: Abstract Label: Abstract (English) Group: Ab Data: OBJECTIVE: To establish, at the first time in Paraguay, for the first time in Paraguay, the laboratory diagnosis of HAE and to characterize affected patients. METHODS: An observational, descriptive, and cross-sectional study was conducted from 2023 to 2024 in patients older than one year with clinical symptoms of hereditary angioedema and asymptomatic relatives registered with the AEH-Paraguay Association, and 20 healthy donors. Quantitative C1-INH was determined by radial immunodiffusion and functional C1-INH by ELISA. Clinical and sociodemographic characteristics were evaluated. RESULTS: Forty patients were included: 26 with clinical symptoms of hereditary angioedema and 14 asymptomatic relatives. Fifty-three percent (21/40) were female, and 15/40 were minors (1–16 years). Decreased quantitative and functional C1-INH levels (HAE-1) were observed in 21/40 patients, and decreased functional C1-INH levels (HAE-2) were observed in 4/40. In this group (n = 25), 20 had edema and 5 were asymptomatic relatives; in addition, 6 patients in this group had a previous laboratory diagnosis, and 19 were newly detected cases. The most frequent edemas appeared in the extremities, face, abdomen, and larynx (n = 9). Fifty-six percent (14/25) reported having a deceased relative with a history of edema. Stress and puberty were the main triggering factors, and the median age of onset was 13 years. Six patients reported prophylactic treatment; the median duration of edema-related crises at one year was 6, with a median of 14 days of disability. CONCLUSION: We studied C1-INH in patients with recurrent edema and asymptomatic relatives, detecting 19 new cases and characterizing 25 patients with hereditary angioedema. This is the first diagnostic approach in Paraguay, and we report these initial data, which may be useful for the public health system in developing policies that address the diagnosis and treatment of patients with hereditary angioedema. [ABSTRACT FROM AUTHOR] – Name: Abstract Label: Abstract (Spanish) Group: Ab Data: OBJETIVO: Establecer el diagnóstico de angioedema hereditario mediante estudios de laboratorio y caracterizar a los pacientes con esta enfermedad por primera vez en Paraguay. MÉTODOS: Estudio observacional, descriptivo y transversal, emprendido de 2023 a 2024 en pacientes mayores de un año, con síntomas clínicos de angioedema hereditario y familiares asintomáticos registrados en la Asociación AEH-Paraguay, y 20 donadores sanos. Se determinó el C1-INH cuantitativo por inmunodifusión radial y C1-INH funcional por ELISA. Se evaluaron características clínicas y sociodemográficas. RESULTADOS: Se incluyeron 60 pacientes, 40 conformaron el grupo de estudio (26 con síntomas clínicos de angioedema hereditario y 14 familiares asintomáticos) y 20 el de referencia. El 53% (21/40) fueron mujeres y 15/40 eran menores de edad (1–16 años). Se observaron valores de C1-INH cuantitativo y funcional disminuidos (AEH-1) en 21/40 pacientes y 4/40 con C1-INH funcional disminuido (AEH-2). En este grupo (n = 25), 20 tenían edema y 5 eran familiares asintomáticos; además 6 pacientes de este grupo contaban con diagnóstico de laboratorio previo y 19 fueron nuevos casos detectados. Los edemas más frecuentes aparecieron en las extremidades, rostro, abdomen y laringe (n = 9). El 56% (14/25) refirió tener algún familiar fallecido con antecedente de edema. El estrés y la pubertad fueron los principales factores desencadenantes y la edad de inicio tuvo una mediana de 13 años. Seis pacientes refirieron tratamiento profiláctico; las crisis al año reportaron una mediana de 6, y 14 días para incapacidad por edema. CONCLUSIÓN: Estudiamos el C1-INH en pacientes con edema recurrente y familiares asintomáticos, detectando 19 casos nuevos y caracterizando 25 pacientes con angioedema hereditario. Este es el primer abordaje diagnóstico en Paraguay y reportamos los primeros datos pueden ser útiles para el sistema de salud pública en el desarrollo de políticas que contemplen el diagnóstico y tratamiento de pacientes con angioedema hereditario. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Revista Alergia de Mexico is the property of Coleg. Mexicano de Inmunologia Clinica y Alergia A.C.; Soc. Lat. de Alergia, Asma e Inmunologia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.29262/ram.v73i1.1570 Languages: – Code: spa Text: Spanish PhysicalDescription: Pagination: PageCount: 8 StartPage: 40 Subjects: – SubjectFull: EDEMA Type: general – SubjectFull: COMPLEMENT inhibition Type: general – SubjectFull: ANGIONEUROTIC edema Type: general – SubjectFull: CLINICAL pathology Type: general – SubjectFull: MEDICAL needs assessment Type: general – SubjectFull: THERAPEUTICS Type: general – SubjectFull: PUBLIC health Type: general – SubjectFull: PARAGUAY Type: general Titles: – TitleFull: Detección de angioedema hereditario: primer abordaje de diagnóstico por estudios de laboratorio y caracterización de pacientes en Paraguay. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sanabria, Diana – PersonEntity: Name: NameFull: Benegas, Sara – PersonEntity: Name: NameFull: María Godoy, Ana – PersonEntity: Name: NameFull: Giménez, Vivian IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: ene-mar2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 00025151 Numbering: – Type: volume Value: 73 – Type: issue Value: 1 Titles: – TitleFull: Revista Alergia de Mexico Type: main |
| ResultId | 1 |
