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.
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机译：摘要背景Fabry病是X连锁遗传病，是由α-半乳糖苷酶缺乏症和糖鞘脂在心血管组织中的积累增加所致。临床表现包括与脉管系统有关的并发症。高脂血症是心血管疾病的危险因素之一，但在法布里病中从未明确定义。可以使用酶替代疗法（ERT），但它对血清胆固醇的作用尚不清楚。该项目的目的是评估长期{ERT}对大量成年法布里病成年患者血脂状况的影响。方法这是对脂质分布结果的回顾性分析。患有法布里（Fabry）病的患者接受{ERT}治疗已有10年，未接受他汀类药物治疗，也没有严重的肾功能损害。在开始{ERT}之前以及6、12、24、36、48、60、120个月后，所有患者的血脂状况均已测量。统计分析包括方差分析，学生t检验和描述性统计。结果在72名患者中，40名是女性（中位年龄45;范围29-75），32名男性（中位年龄46;范围20-69）。在开始进行{ERT}之前和开始进行{ERT}之后的6、12、24、36、48、60和120个月时，基线时的总胆固醇或HDL-胆固醇没有显着差异（ANOVA; P =分别为0.673和P = 0.883）。与没有症状且未接受治疗的法布里女性患者相比，接受{ERT}治疗的女性患者的平均HDL-胆固醇更高（P≥0.05）。经治疗和未经治疗的女性患者的总胆固醇相当。与接受ERT的男性患者的血脂结果相比，接受{ERT}的女性患者的总胆固醇和HDL-胆固醇更高。接受{ERT}治疗的女性和男性患者的10年间总胆固醇/ HDL-胆固醇比率较低。结论成年法布里病患者的HDL-胆固醇明显升高，因此总胆固醇升高。 HDL-胆固醇升高可能对患有这种疾病的患者具有心脏保护作用。长期{ERT}对患有法布里病的女性和男性人群的血脂水平没有显着影响。
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