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Lipid profile in adult patients with Fabry disease - Ten-year follow up
Karolina M Stepien1, Chris J Hendriksz1,2
1Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Ladywell NW2- 2nd Floor Room 112, Salford, Manchester M6 8HD, United Kingdom.
Insights
Long-term Enzyme Replacement Therapy (ERT) for Fabry disease does not significantly alter lipid profiles in adult patients. However, Fabry patients on ERT show elevated HDL-cholesterol, potentially offering cardioprotection.
Area of Science:
- Biochemistry
- Genetics
- Cardiology
Background:
- Fabry disease is an X-linked genetic disorder caused by alpha-galactosidase deficiency, leading to glycosphingolipid accumulation.
- Cardiovascular complications, including hyperlipidemia, are common in Fabry disease, but their lipid profiles are not well-defined.
- The impact of Enzyme Replacement Therapy (ERT) on serum cholesterol in Fabry disease patients remains unclear.
Purpose of the Study:
- To evaluate the long-term effects of ERT on the lipid profiles of adult Fabry disease patients.
- To assess changes in total cholesterol and HDL-cholesterol over a 10-year period of ERT.
- To compare lipid profiles between treated and untreated Fabry disease patients.
Main Methods:
- Retrospective analysis of lipid profiles from 72 adult Fabry disease patients on ERT for 10 years.
- lipid profiles were measured at baseline and at multiple time points up to 120 months post-ERT initiation.
- Patients were not on statins and had no severe renal impairment; statistical analyses included ANOVA and Student's t-test.
Main Results:
- No significant changes in total cholesterol or HDL-cholesterol were observed during 10 years of ERT in the overall cohort.
- Female patients on ERT had higher HDL-cholesterol compared to untreated asymptomatic females.
- Female patients on ERT exhibited higher total cholesterol and HDL-cholesterol than male patients on ERT, with low total cholesterol/HDL-cholesterol ratios in both sexes.
Conclusions:
- Adult Fabry disease patients exhibit elevated HDL-cholesterol and total cholesterol, with potential cardioprotective implications.
- Long-term ERT does not significantly impact the lipid profiles of adult Fabry disease patients.
- Elevated HDL-cholesterol in Fabry disease may play a role in cardiovascular protection.
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.
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