Clinical Research
Cardiomyopathy
Cardiovascular Events in Patients With Fabry Disease: Natural History Data From the Fabry Registry

https://doi.org/10.1016/j.jacc.2010.11.018Get rights and content
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Objectives

These analyses were designed to determine the incidence of major cardiovascular (CV) events and the natural history of CV complications in patients with Fabry disease.

Background

Fabry disease, a genetic disorder caused by deficiency of alpha-galactosidase A activity, is associated with CV dysfunction.

Methods

Major CV events (myocardial infarction, heart failure, or cardiac-related death) were analyzed in 2,869 Fabry Registry patients during the natural history period (i.e., before enzyme replacement therapy or among patients who never received therapy). Multivariate logistic regression analyses were performed to identify significant predictors of CV events.

Results

Eighty-three of 1,424 men (5.8%) and 54 of 1,445 women (3.7%) experienced CV events at mean ages of 45 and 54 years, respectively. Heart failure was the most common first CV event, reported by 50 men (3.5%) and 33 women (2.3%). Hypertension and left ventricular hypertrophy were the risk factors most strongly associated with CV events. When these parameters were used as covariates in logistic regression analyses, the odds ratio (OR) for hypertension in men was 7.8 (95% confidence interval [CI]: 2.1 to 28.6, p = 0.0019), and the OR for hypertension in women was 4.5 (95% CI: 1.6 to 12.3, p = 0.0037). The OR for left ventricular hypertrophy was 4.8 in men (95% CI: 1.03 to 22.2, p = 0.0463) and 8.2 in women (95% CI: 2.6 to 26.0, p = 0.0003).

Conclusions

Major CV events occurred in approximately 5% of Fabry Registry patients during the natural history period. All patients with Fabry disease should be monitored for possible CV risk factors, particularly hypertension and left ventricular hypertrophy.

Key Words

cardiomyopathy
Fabry disease
hypertension
left ventricular hypertrophy
lysosomal storage diseases

Abbreviations and Acronyms

CI
confidence interval
CV
cardiovascular
ERT
enzyme replacement therapy
GL-3
globotriaosylceramide
HF
heart failure
LVH
left ventricular hypertrophy
MI
myocardial infarction
OR
odds ratio

Cited by (0)

The Fabry Registry is sponsored by Genzyme Corporation (Cambridge, Massachusetts). Drs. Patel, Strotmann, and Abiose served on the Genzyme-sponsored Fabry Registry Boards of Advisors. Drs. Cecchi and Linhart have received research support and speaking fees from Genzyme and from Shire HGT. Ms. Cizmarik and Dr. Beitner-Johnson are full-time employees of Genzyme. Dr. Kantola has received speaking fees and travel funds from Genzyme and from Shire HGT. Dr. Nicholls has received travel and research support from Genzyme, Shire HGT, and Amicus Therapeutics and serves on the Fabry Outcome Survey (FOS) International Advisory Board. Dr. Strotmann has received research support and speaking fees from Genzyme. Dr. West has received speaking fees, research funding, and/or consultant fees from Genzyme, Shire HGT, Amicus Therapeutics, and Sumitomo Pharma. All other authors have reported that they have no relationships to disclose.