Familial hyperaldosteronism

Abstract

Familial hyperaldosteronism (FH) is a group of rare autosomal dominant disorders associated with primary aldosteronism (PA) with variable penetrance causing monogenic hypertension. Of these, FH-I or glucocorticoid-remediable aldosteronism is the most common form of monogenic hypertension; it features ACTH (adrenocorticotropin)-dependent mineralocorticoid overproduction which can be suppressed by oral glucocorticoid therapy. Other familial forms of hyperaldosteronism are FH-II, FH-III, FH-IV, and PA, seizures, and neurological abnormalities syndrome. Prompt clinical work up with biochemical testing followed by appropriate molecular genetic analysis helps the diagnosis of these groups of diseases. The genetic landscape of these rare disorders is now well characterized in the recent years, and new genes associated with both familial and sporadic PA are currently being discovered. Proper understanding of the pathobiological aspects of these disorders is important for diagnostic evaluation and management which is the purpose of this chapter.