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

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

Abstract

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.

Address: Endocrinology and Nutrition Department, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Universitario La Paz, Madrid, Spain.; Endocrinology and Nutrition Department, OSI Bilbao-Basurto, Hospital Universitario de Basurto, Bilbao, Spain.; Medicine Department, Basque Country University, Bilbao, Spain.; Endocrinology and Nutrition Department, Hospital Universitario de Castellón, Castellón, Spain.; Biochemistry Department, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Universitario de Toledo, Toledo, Spain.; Endocrinology and Nutrition Department, Hospital Universitario de Valladolid, Valladolid, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Rey Juan Carlos, Madrid, Spain.; General and Digestive Surgery Department, Hospital Universitario de La Princesa, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital De Girona Doctor Josep Trueta, Girona, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Virgen de la Victoria de Málaga, IBIMA, Malaga, Spain.; CIBEROBN, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Infanta Sofía, Madrid, Spain.; Endocrinology and Nutrition Department, Clínica Universidad de Navarra, Pamplona, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Central de Asturias, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Gregorio Marañón, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Reina Sofía, Córdoba, Spain.; Endocrinology and Nutrition Department, Hospital Royo Villanova, Zaragoza, Spain.; Endocrinology and Nutrition Department, Complejo Universitario de Salamanca, Salamanca, Spain.; Biochemistry and Molecular Genetics Department-CDB, Hospital Clinic, IDIBAPS, CIBERehd, Barcelona, Spain.; Endocrinology and Nutrition Department, Hospital Doce de Octubre, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Universitario La Princesa, Madrid, Spain.; Nephrology Department, Hospital Universitario Doctor Peset, Valencia, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Endocrinology and Nutrition Department, Hospital Universitario De Albacete, Albacete, Spain.; Endocrinology and Nutrition Department, Hospital Universitario Virgen Macarena, Sevilla, Spain.; Endocrinology and Nutrition Department, Hospital General Universitario de Alicante, Alicante, Spain.; Endocrinology and Nutrition Department, Hospital Joan XXIII, Tarragona, Spain.; Internal Medicine, Hospital Universitario Infanta Leonor, Madrid, Spain.; Endocrinology and Nutrition Department, Hospital Clinic, IDIPAS, Barcelona, Spain.
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