Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders

Abstract

Background: Hypertension is a growing concern worldwide, with increasing prevalence rates in both children and adults. Most cases of hypertension are multifactorial, with various genetic, environmental, socioeconomic, and lifestyle influences. However, monogenic hypertension, a blanket term for a group of rare hypertensive disorders, is caused by single-gene mutations that are typically inherited in an autosomal dominant fashion, and ultimately disrupt normal blood pressure regulation in the kidney or adrenal gland. Being able to recognize and understand the pathophysiology of these rare disorders is critical for properly diagnosing hypertension, particularly in children and young adults, as treating each form of monogenic hypertension requires specific and targeted treatment approaches.

Methods: A scoping literature review was conducted on the available knowledge regarding each of the disorders currently categorized as forms of monogenic hypertension.

Results: This narrative review serves to highlight the epidemiology, pathophysiology, clinical presentation, recent case reports, and most current methods of evaluation and treatment for familial hyperaldosteronism types 1-4, Gordon syndrome. Liddle syndrome, syndrome of apparent mineralocorticoid excess, congenital adrenal hyperplasia, Geller syndrome, hereditary syndromes related to pheochromocytomas and paragangliomas, and brachydactyly type E.

Conclusions: Recent and future advances in genetic analysis techniques will further enhance the diagnosis and early management of these disorders, preventing the consequences of uncontrolled hypertension.

Keywords: Geller syndrome; Gordon syndrome; Liddle syndrome; blood pressure; congenital adrenal hyperplasia; familial hyperaldosteronism; hypertension; hypertension with brachydactyly; monogenic hypertension; syndrome of apparent mineralocorticoid excess.