Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature
Authors' conclusion
The genetic study of FH is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases.
Study context
- Population
- Patients with primary aldosteronism (PA) followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry)PA registry
- Participants
- 855 patients
- Outcome
- Rate of genetic testing for familial hyperaldosteronism (FH)
Methodological detailsmulticentre, registry-based
- Multicentre
- Registry-based
Main finding
As reported in the abstract
Genetic testing for FH
- Patients with PA who underwent genetic testing for FH
- 25 (3%)
- Complete results available
- 24 patients
- Patients meeting criteria for genetic study
- 57
- Patients meeting criteria who were genetically tested
- 8 (14.0%)
- Tested without meeting criteria (heterogeneous reasons)
- 17
Observational data: associations, not effects.
Further findings
Positive FH result
- FH type III (KCNJ5 pathogenic variant)
- 1 case
Systematic literature review of reported FH cases
- FH type I
- 246 patients, 25 articles
- FH type II
- 72 patients, 12 articles
- FH type III
- 29 cases, 14 articles
- FH type IV
- 12 patients, 3 articles
Original publication
Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature. J Clin Endocrinol Metab. Published 26 July 2024. doi:10.
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