AUTHOR=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 Rui , 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 Nuñez Miguel , 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. 

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

JOURNAL=Frontiers in Endocrinology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1336306

DOI=10.3389/fendo.2024.1336306

ISSN=1664-2392

ABSTRACT=<sec><title>Purpose</title><p>To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA).</p></sec><sec><title>Methods</title><p>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).</p></sec><sec><title>Results</title><p>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 &lt; 0.001) less frequent than in sporadic cases. Except for a younger age (P &lt; 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 &lt; 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.</p></sec><sec><title>Conclusion</title><p>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.</p></sec>