Unidad de Investigación de Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, México City, Mexico; Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutricion Salvador Zubiran, Mexico City, Mexico.
Unidad de Investigación de Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, México City, Mexico; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico.
J Clin Lipidol. 2021 Jan-Feb;15(1):124-133. doi: 10.1016/j.jacl.2020.12.001. Epub 2020 Dec 16.
Familial hypercholesterolemia (FH) remains underdiagnosed and undertreated.
Report the results of the first years (2017-2019) of the Mexican FH registry.
There are 60 investigators, representing 28 federal states, participating in the registry. The variables included are in accordance with the European Atherosclerosis Society (EAS) FH recommendations.
To date, 709 patients have been registered, only 336 patients with complete data fields are presented. The mean age is 50 (36-62) years and the average time since diagnosis is 4 (IQR: 2-16) years. Genetic testing is recorded in 26.9%. Tendon xanthomas are present in 43.2%. The prevalence of type 2 diabetes is 11.3% and that of premature CAD is 9.8%. Index cases, male gender, hypertension and smoking were associated with premature CAD. The median lipoprotein (a) level is 30.5 (IQR 10.8-80.7) mg/dl. Statins and co-administration with ezetimibe were recorded in 88.1% and 35.7% respectively. A combined treatment target (50% reduction in LDL-C and an LDL-C <100 mg/dl) was achieved by 13.7%. Associated factors were index case (OR 3.6, 95%CI 1.69-8.73, P = .002), combination therapy (OR 2.4, 95%CI 1.23-4.90, P = .011), type 2 diabetes (OR 2.8, 95%CI 1.03-7.59, P = .036) and age (OR 1.023, 95%CI 1.01-1.05, P = .033).
The results confirm late diagnosis, a lower than expected prevalence and risk of ASCVD, a higher than expected prevalence of type 2 diabetes and undertreatment, with relatively few patients reaching goals. Recommendations include, the use of combination lipid lowering therapy, control of comorbid conditions and more frequent genetic testing in the future.
家族性高胆固醇血症（FH）的诊断和治疗仍未得到充分重视。
报告墨西哥 FH 注册研究的前几年（2017-2019 年）的结果。
有 60 名调查员代表 28 个联邦州参与了该注册研究。所包括的变量符合欧洲动脉粥样硬化学会（EAS）FH 建议。
截至目前，已登记了 709 名患者，但仅呈现了 336 名具有完整数据字段的患者。平均年龄为 50（36-62）岁，平均诊断后时间为 4（IQR：2-16）年。有 26.9%的患者进行了基因检测。43.2%的患者存在肌腱黄色瘤。2 型糖尿病的患病率为 11.3%，早发冠心病的患病率为 9.8%。起始病例、男性、高血压和吸烟与早发冠心病相关。脂蛋白（a）水平的中位数为 30.5（IQR 10.8-80.7）mg/dl。记录了 88.1%的患者使用他汀类药物和 35.7%的患者联合使用依折麦布。仅有 13.7%的患者达到了联合治疗目标（LDL-C 降低 50%且 LDL-C＜100mg/dl）。相关因素包括起始病例（OR 3.6，95%CI 1.69-8.73，P=0.002）、联合治疗（OR 2.4，95%CI 1.23-4.90，P=0.011）、2 型糖尿病（OR 2.8，95%CI 1.03-7.59，P=0.036）和年龄（OR 1.023，95%CI 1.01-1.05，P=0.033）。
结果证实了诊断较晚、ASCVD 风险低于预期、2 型糖尿病和治疗不足的发生率较高，只有少数患者达到了治疗目标。建议包括未来使用联合降脂治疗、控制合并症和更频繁的基因检测。
