Miguel Sampedro Nuñez, Almudena Vicente Delgado, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, María José Picón César, Laura Manjón-Miguélez, Ángel Rebollo Román, Simone Andree Furio Collao, Diego Meneses, Jorge Gabriel Ruiz-Sanchez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, María Del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, Rebeca Barahona San Millan, Miguel Paja Fano, Emilia Gómez Hoyos, Rogelio García Centeno, Manuel Morales-Ruiz, Paola Gracia Gimeno, Patricia Martín Rojas-Marcos, Carolina M Perdomo, María Calatayud, Cristina Robles Lázaro, Felicia A Hanzu, Cristina Lamas, Patricia Díaz Guardiola, Marta Araujo-Castro, Eider Pascual-Corrales, Paola Parra, Marga González Boillos, Ana María García Cano
Journal: Frontiers in endocrinology 2024;15():1336306
PMID: 38495792
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.
Copyright © 2024 Araujo-Castro, Parra, Martín Rojas-Marcos, Paja Fano, González Boillos, Pascual-Corrales, García Cano, Ruiz-Sanchez, Vicente Delgado, Gómez Hoyos, Ferreira, García Sanz, Recasens Sala, Barahona San Millan, Picón César, Díaz Guardiola, Perdomo, Manjón-Miguélez, García Centeno, Rebollo Román, Gracia Gimeno, Robles Lázaro, Morales-Ruiz, Calatayud, Furio Collao, Meneses, Sampedro Nuñez, Escudero Quesada, Mena Ribas, Sanmartín Sánchez, Gonzalvo Diaz, Lamas, del Castillo Tous, Serrano Gotarredona, Michalopoulou Alevras, Moya Mateo and Hanzu.
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