Abstract:
BACKGROUND : Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased
accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature
associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been
well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is available but its effect on serum cholesterol
is unknown. The aim of this project was to assess the influence of long-term ERT on lipid profile in a large
cohort of adult patients with Fabry disease.
METHODS : This was a retrospective analysis of lipid profile results. Patients with Fabry disease were on ERT for
10 years, were not treated with statins and had no severe renal impairment. All patients had lipid profile
measured before ERT was commenced and 6, 12, 24, 36, 48, 60, 120 months later. Statistical analysis included
ANOVA, Student t-test and descriptive statistics.
RESULTS : Among 72 patients, 40 were females (median age 45; range 29–75), 32 males (median age 46; range
20–69). There was no significant difference in total cholesterol or HDL-cholesterol measured at baseline before
ERT was commenced and 6, 12, 24, 36, 48, 60 and 120 months after ERT was commenced in 72 patients
(ANOVA; P=0.673 and P =0.883, respectively). Female patients on ERT had higher mean HDL-cholesterol as
compared to female patients with Fabry disease who were asymptomatic and not treated (P ≥0.05). Total
cholesterol between treated and non-treated female patients was comparable. Female patients on ERT have
higher total cholesterol and HDL-cholesterol when compared to lipid results in male patients on ERT. Total
cholesterol/HDL-cholesterol ratio was low in female and male patients on ERT over 10 years.
CONCLUSION : Adult patients with Fabry disease have remarkably elevated HDL-cholesterol and as a result, elevated
total cholesterol. It is possible that elevated HDL-cholesterol has a cardioprotective effect in patients with
this condition. Long term ERT does not have a significant impact on lipid profile in female and male population
with Fabry disease.
