Overview
Familial hyperaldosteronism type 1 (FH-1) is a rare, autosomal dominant disorder characterized by primary aldosteronism leading to hypertension, which can manifest severely and early in life, potentially causing cardiovascular complications 1.Diagnosis
Genetic testing for the CYP11B1 or CYP11B2 gene mutations
Plasma aldosterone-to-renin ratio (ARR) elevation
Suppression test with dexamethasone to confirm autonomous aldosterone production 1Management
First-line treatment: Spironolactone (dosage not specified in abstracts) 1
Adjunctive therapies: Consideration of amiloride to prevent hypokalemia 1
Regular monitoring of electrolytes and blood pressure 1Special Populations
Pregnancy: Limited data; rational management includes close monitoring and individualized treatment adjustments, possibly continuing or initiating spironolactone under strict surveillance 1Key Recommendations
Genetic counseling is essential for FH-1 patients considering pregnancy due to potential transmission risks (Evidence: Expert opinion) 1
Spironolactone should be considered as a first-line treatment for managing hypertension in FH-1, with careful monitoring during pregnancy (Evidence: Moderate) 1
Electrolyte levels, particularly potassium, should be closely monitored in pregnant women with FH-1, possibly requiring adjunctive potassium-sparing diuretics like amiloride (Evidence: Moderate) 1References
1 Sanga V, Seccia TM, Rossi GP. A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy. Endocrine 2021. link