ICEECE2012 Poster Presentations Adrenal cortex (113 abstracts)
Prevalence and Characteristics of Familial Hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino - GENetic forms).
P. Mulatero , D. Tizzani , A. Viola , S. Monticone , T. Williams , J. Burrello , M. Galmozzi , C. Fulcheri , M. Chiarlo & F. Veglio
University of Torino, Torino, Italy.
Primary Aldosteronism (PA) is the most frequent cause of secondary hypertension and patients display an increased prevalence of cardiovascular events compared to essential hypertensives. To date, three 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 three 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 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 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 that 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.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This work was supported, however funding details unavailable.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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