title: Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms).
abstract: Primary aldosteronism (PA) is the most frequent cause of secondary hypertension, and patients display an increased prevalence of cardiovascular events compared with essential hypertensives. To date, 3 familial forms of PA have been described and termed familial hyperaldosteronism types I, II, and III (FH-I to -III). The aim of this study was to investigate the prevalence and clinical characteristics of the 3 forms of FH in a large population of PA patients. Three-hundred consecutive PA patients diagnosed in our unit were tested by long-PCR of the CYP11B1/CYP11B2 hybrid gene that causes FH-I, and all of the available relatives of PA patients were screened to confirm or exclude PA and, thus, FH-II. Urinary 18-hydroxycortisol and 18-oxocortisol were measured in all of the familial PA patients. Two patients were diagnosed with FH-I (prevalence: 0.66%), as well as 21 of their relatives, and clinical phenotypes of the 2 affected families varied markedly. After exclusion of families who refused testing and those who were not informative, 199 families were investigated, of which 12 were diagnosed with FH-II (6%) and an additional 15 individuals had confirmed PA; clinical and biochemical phenotypes of FH-II families were not significantly different from sporadic PA patients. None of the families displayed a phenotype compatible with FH-III diagnosis. Our study demonstrates that familial forms of hyperaldosteronism are more frequent than previously expected and reinforces the recommendation of the Endocrine Society Guidelines to screen all first-degree hypertensive relatives of PA patients.
authors.affiliation: Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension, University of Torino, Torino, Italy. paolo.mulatero@libero.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Mulatero
authors.forename: Davide
authors.initials: D
authors.lastname: Tizzani
authors.forename: Andrea
authors.initials: A
authors.lastname: Viola
authors.forename: Chiara
authors.initials: C
authors.lastname: Bertello
authors.forename: Silvia
authors.initials: S
authors.lastname: Monticone
authors.forename: Giulio
authors.initials: G
authors.lastname: Mengozzi
authors.forename: Domenica
authors.initials: D
authors.lastname: Schiavone
authors.forename: Tracy Ann
authors.initials: TA
authors.lastname: Williams
authors.forename: Silvia
authors.initials: S
authors.lastname: Einaudi
authors.forename: Antonio
authors.initials: A
authors.lastname: La Grotta
authors.forename: Franco
authors.initials: F
authors.lastname: Rabbia
authors.forename: Franco
authors.initials: F
authors.lastname: Veglio
mesh_terms: D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006579:Heterozygote; D006801:Humans; D006929:Hyperaldosteronism / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D007558:Italy / Q000453:epidemiology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D012189:Retrospective Studies; D018570:Risk Assessment