成年法布里病患者的血脂谱——十年随访
Lipid profile in adult patients with Fabry disease - Ten-year follow up.
作者信息
Stepien Karolina M, Hendriksz Chris J
机构信息
Adult 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.
Paediatrics and Child Health, University of Pretoria, Steve Biko Academic Unit, Pretoria, South Africa.
出版信息
Mol Genet Metab Rep. 2017 Jul 13;13:3-6. doi: 10.1016/j.ymgmr.2017.06.010. eCollection 2017 Dec.
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 -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; = 0.673 and = 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 ( ≥ 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.
背景
法布里病是一种X连锁遗传病，由α-半乳糖苷酶缺乏和心血管组织中糖鞘脂积累增加所致。临床表现包括与血管系统相关的并发症。高脂血症是心血管危险因素之一，但在法布里病中尚未得到明确界定。酶替代疗法（ERT）已可应用，但其对血清胆固醇的影响尚不清楚。本项目的目的是评估长期ERT对一大群成年法布里病患者血脂谱的影响。
方法
这是一项对血脂谱结果的回顾性分析。法布里病患者接受ERT治疗10年，未接受他汀类药物治疗且无严重肾功能损害。所有患者在开始ERT前以及开始后6、12、24、36、48、60、120个月测量血脂谱。统计分析包括方差分析、学生检验和描述性统计。
结果
72例患者中，40例为女性（中位年龄45岁；范围29 - 75岁），32例为男性（中位年龄46岁；范围20 - 69岁）。在72例患者中，开始ERT前基线时以及开始ERT后6、12、24、36、48、60和120个月测量的总胆固醇或高密度脂蛋白胆固醇无显著差异（方差分析；分别为P = 0.673和P = 0.883）。接受ERT治疗的女性患者与无症状且未接受治疗的法布里病女性患者相比，平均高密度脂蛋白胆固醇更高（P≥0.05）。接受治疗和未接受治疗的女性患者之间的总胆固醇相当。与接受ERT治疗的男性患者的血脂结果相比，接受ERT治疗的女性患者总胆固醇和高密度脂蛋白胆固醇更高。在接受ERT治疗10年的女性和男性患者中，总胆固醇/高密度脂蛋白胆固醇比值较低。
结论
成年法布里病患者的高密度脂蛋白胆固醇显著升高，结果总胆固醇也升高。高密度脂蛋白胆固醇升高可能对该病患者具有心脏保护作用。长期ERT对法布里病女性和男性人群的血脂谱无显著影响。
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