Rates, risk factors for CV events associated with Fabry’s disease

**Patel M. J Am Coll Cardiol. 2011;57:1093-1099.**

Issue: April 2011

Patients with Fabry’s disease, an X-linked lysosomal storage disorder, had a roughly 5% risk for major CV events, with the most common risk factors being hypertension and left ventricular hypertrophy, according to registry data.

“Although it is well-known that Fabry patients have a high risk of CV events, this is the first study to systematically analyze the rates and risk factors associated with such events in a large cohort of patients with Fabry’s disease,” the researchers wrote. “Patients with Fabry’s disease, particularly those with hypertension and/or left ventricular hypertrophy, have a high risk of experiencing HF and MI at a relatively young age.”

The study included 2,869 participants (50.4% women) of the Fabry Registry, an ongoing, observational database that features clinical and laboratory data on an international cohort of patients with Fabry’s disease. Major CV events were documented in patients before enzyme replacement therapy or in patients who never received therapy.

According to study data, CV events occurred in 5.8% of men (mean age, 45 years) and 3.7% of women (mean age, 54 years), with the most common first event being HF (men, 3.5%; women, 2.3%). Risk factors most strongly associated with CV events were hypertension (men, OR=7.81; women, OR=4.47) and LV hypertrophy (men, OR=4.77; women, OR=8.23).

“The cardiac manifestations of Fabry’s disease are consistent with other forms of CV disease, which makes it difficult to identify the disease solely on the basis of cardiac assessments. The medical community in general, especially cardiologists, should be aware of Fabry’s disease as a possible cause of cardiac dysfunction,” the researchers said. “Earlier diagnosis of these patients, before the onset of end organ failure, will allow for prompt initiation of appropriate treatment.”

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