Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement...

Area of Science:

• Cardiology
• Genetics
• Pharmacology

Background:

• Anderson-Fabry disease (AFD) is a rare genetic disorder.
• Enzyme replacement therapy (ERT) is a treatment option for AFD.
• The impact of ERT on left ventricular hypertrophy (LVH) progression in AFD requires further investigation.

Purpose of the Study:

• To evaluate the long-term efficacy of ERT in preventing cardiac progression, specifically LVH, in AFD patients.
• To identify predictors of LVH progression and major AFD-related events during ERT.

Main Methods:

• A cohort of 60 AFD patients receiving ERT with a minimum 5-year follow-up was analyzed.
• Cardiac progression was defined as an increase in left ventricular mass index (LVMI) >10 g/m².
• Transthoracic echocardiography was used to assess LVMI at baseline and during follow-up.

Main Results:

• Over a median follow-up of 10.5 years, 36% of patients showed LVMI progression.
• LVMI progression was more common in men and individuals over 30 years old.
• Baseline LVH (OR 1.3, p=0.02) and male sex were significant predictors of LVMI progression.

Conclusions:

• A significant proportion of AFD patients experience LVMI progression despite long-term ERT.
• Early LVH at ERT initiation is a strong predictor of cardiac progression and adverse events.
• These findings highlight the importance of early diagnosis and intervention in AFD management.