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Sanz, Inigo GarciaAuthorNunez, Miguel SampedroAuthor

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

Publicated to:Frontiers in Endocrinology. 15 1336306- - 2024-03-01 15(), DOI: 10.3389/fendo.2024.1336306

Authors: Araujo-Castro, Marta; Parra, Paola; Rojas-Marcos, Patricia Martin; Fano, Miguel Paja; Boillos, Marga; Pascual-Corrales, Eider; Cano, Ana Maria Garcia; Ruiz-Sanchez, Jorge Gabriel; Delgado, Almudena Vicente; Hoyos, Emilia Gomez; Ferreira, Rui; Sanz, Inigo Garcia; Sala, Monica Recasens; Millan, Rebeca Barahona San; Cesar, Maria Jose Picon; Guardiola, Patricia Diaz; Perdomo, Carolina M; Manjon-Miguelez, Laura; Centeno, Rogelio Garcia; Rebollo Roman, Angel; Gracia Gimeno, Paola; Robles Lazaro, Cristina; Morales-Ruiz, Manuel; Calatayud, Maria; Furio Collao, Simone Andree; Meneses, Diego; Nunez, Miguel Sampedro; Quesada, Veronica Escudero; Ribas, Elena Mena; Sanchez, Alicia Sanmartin; Gonzalvo Diaz, Cesar; Lamas, Cristina; Tous, Maria del Castillo; Gotarredona, Joaquin Serrano; Michalopoulou Alevras, Theodora; Mateo, Eva Maria Moya; Hanzu, Felicia A

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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.

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