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, M, Parra, P, Rojas-Marcos, PM, Fano, MP, Boillos, M, Pascual-Corrales, E, Cano, AMG, Ruiz-Sanchez, JG, Delgado, AV, Hoyos, EG, Ferreira, R, Sanz, IG, Sala, MR, Millan, RBS, Cesar, MJP, Guardiola, PD, Perdomo, CM, Manjon-Miguélez, L, Centeno, RG, Román, AR, Gimeno, PG, Lazaro, CR, Morales-Ruiz, M, Calatayud, M, Collao, SAF, Meneses, D, Nuñez, MS, Quesada, VE, Ribas, EM, Sánchez, AS, Diaz, CG, Lámas, C, Tous, MD, Gotarredona, JS, Alevras, TM, Mateo, EMM, Hanzu, FA
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Repositorio:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
OAI Identifier:oai:isabial.fundanetsuite.com:p10208
Acceso en línea:https://isabial.portalinvestigacion.com/publicaciones10208
https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1336306/full
Access Level:acceso abierto
Palabra clave:primary aldosteronism
familial hyperaldosteronism
genetic study
pathogenic variant
plasma aldosterone concentration
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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