Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism

Purpose: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). Methods: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with...

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Detalles Bibliográficos
Autores: Araujo Castro, Marta, Parra, Paola, Martín Rojas-Marcos, Patricia, Paja Fano, Miguel, González Boillos, Marga, Pascual Corrales, Eider, García Cano, Ana María, Ruiz Sanchez, Jorge Gabriel, Vicente Delgado, Almudena, Gómez Hoyos, Emilia, Ferreira da Silva, Rui Emanuel, García Sanz, Iñigo, Recasens Sala, Mònica, Barahona San Millan, Rebeca, Picón César, María José, Díaz Guardiola, Patricia, Perdomo, Carolina M., Manjón Miguélez, Laura, García Centeno, Rogelio, Rebollo Román, Ángel, Gracia Gimeno, Paola, Robles Lázaro, Cristina, Morales Ruiz, Manuel, Calatayud, María, Furio Collao, Simone Andree, Meneses, Diego, Sampedro Núñez, Miguel Antonio, Escudero Quesada, Verónica, Mena Ribas, Elena, Sanmartín Sánchez, Alicia, Gonzalvo Diaz, Cesar, Lamas, Cristina, del Castillo Tous, María, Serrano Gotarredona, Joaquín, Michalopoulou Alevras, Theodora, Moya Mateo, Eva María, Hanzu, Felicia A.
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad Autónoma de Madrid
Repositorio:Biblos-e Archivo. Repositorio Institucional de la UAM
Idioma:inglés
OAI Identifier:oai:repositorio.uam.es:10486/715056
Acceso en línea:http://hdl.handle.net/10486/715056
https://dx.doi.org/10.3389/fendo.2024.1336306
Access Level:acceso abierto
Palabra clave:familial hyperaldosteronism
genetic study
pathogenic variant
plasma aldosterone concentration
primary aldosteronism
Medicina
Descripción
Sumario:Purpose: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). Methods: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with no suspicion of FH was chosen as the comparator group (sporadic group). Results: A total of 360 FH (246 FH type I, 73 type II, 29 type III, and 12 type IV) cases and 830 sporadic PA patients were included. Patients with FH-I were younger than sporadic cases, and women were more commonly affected (P = 0.003). In addition, the plasma aldosterone concentration (PAC) was lower, plasma renin activity (PRA) higher, and hypokalemia (P < 0.001) less frequent than in sporadic cases. Except for a younger age (P < 0.001) and higher diastolic blood pressure (P = 0.006), the clinical and hormonal profiles of FH-II and sporadic cases were similar. FH-III had a distinct phenotype, with higher PAC and higher frequency of hypokalemia (P < 0.001), and presented 45 years before sporadic cases. Nevertheless, the clinical and hormonal phenotypes of FH-IV and sporadic cases were similar, with the former being younger and having lower serum potassium levels. Conclusion: In addition to being younger and having a family history of PA, FH-I and III share other typical characteristics. In this regard, FH-I is characterized by a low prevalence of hypokalemia and FH-III by a severe aldosterone excess causing hypokalemia in more than 85% of patients. The clinical and hormonal phenotype of type II and IV is similar to the sporadic cases

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