Management of Hypertension in Fabry Disease

Area of Science:

• Genetics and rare diseases
• Cardiovascular medicine
• Nephrology

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-GalA) deficiency, leading to Gb3 accumulation.
• Gb3 deposition in blood vessels contributes to vascular injury, inflammation, and kidney damage, complicating FD pathophysiology.
• Hypertension is a common comorbidity in FD, with reported prevalence ranging from 28.4% to 56%.

Purpose of the Study:

• To investigate the complex pathophysiology of hypertension in Fabry disease.
• To highlight the high prevalence of uncontrolled hypertension in FD patients.
• To emphasize the importance of 24-hour ambulatory blood pressure monitoring (ABPM) for FD hypertension assessment.

Main Methods:

• Review of existing literature on Fabry disease, hypertension, and related organ damage.
• Analysis of prevalence data for hypertension in FD and chronic kidney disease populations.
• Evaluation of the role of 24-hour ABPM in diagnosing and managing hypertension in FD.

Main Results:

• Hypertension is highly prevalent in FD, often uncontrolled, and contributes significantly to organ damage.
• Gb3 accumulation in vascular cells promotes oxidative stress and inflammation, key mechanisms in FD-related hypertension.
• 24-hour ABPM identified a high rate of uncontrolled hypertension in FD patients, suggesting its utility in assessment.

Conclusions:

• Hypertension is a critical factor in FD morbidity and mortality, necessitating appropriate management.
• Early and accurate assessment of hypertension using 24-hour ABPM is recommended for FD patients.
• Targeted antihypertensive therapies, including ACE inhibitors and ARBs, are vital for managing kidney involvement and overall outcomes in FD.