Abstract：
Despite lipid lowering therapy (LLT), reaching LDL-C targets in patients with familial hypercholesterolemia (FH) remains challenging. Our aim was to determine attainment of LDL-C target levels and reasons for not reaching these in female and male FH patients.
We performed a cross-sectional study of heterozygous FH patients in five hospitals in the Netherlands and Norway. Clinical characteristics and information about LLT, lipid levels and reasons for not being on LDL-C treatment target were retrospectively collected from electronic medical records.
We studied 3178 FH patients (53.9% women), median age 48.0 (IQR 34.0-59.9) years. Median LDL-C before treatment and on-treatment was higher in women compared to men (6.2 (IQR 5.1-7.3) and 6.0 (IQR 4.9-7.2) mmol/l (p=0.005) and 3.0 (IQR 2.4-3.8) and 2.8 (IQR 2.3-3.5) mmol/L (p<0.001)), respectively. A minority of women (26.9%) and men (28.9%) reached LDL-C target. In patients with CVD, 17.2% of women and 25.8% of men reached LDL-C target. Women received less often high-intensity statins and ezetimibe. Most common reported reasons for not achieving the LDL-C target were insufficient effect of maximum LLT (women 17.3%, men 24.3%) and side effects (women 15.2%, men 8.6%).
In routine practice, only a minority of women and men with FH achieved their LDL-C treatment target. Extra efforts have to be made to provide FH patients with reliable information on the safety of statins and their long-term effects on CVD risk reduction. If statin treatment is insufficient, alternative lipid lowering therapies such as ezetimibe or PCSK9-inhibitors should be considered.
We performed a cross-sectional study of heterozygous FH patients in five hospitals in the Netherlands and Norway. Clinical characteristics and information about LLT, lipid levels and reasons for not being on LDL-C treatment target were retrospectively collected from electronic medical records.
We studied 3178 FH patients (53.9% women), median age 48.0 (IQR 34.0-59.9) years. Median LDL-C before treatment and on-treatment was higher in women compared to men (6.2 (IQR 5.1-7.3) and 6.0 (IQR 4.9-7.2) mmol/l (p=0.005) and 3.0 (IQR 2.4-3.8) and 2.8 (IQR 2.3-3.5) mmol/L (p<0.001)), respectively. A minority of women (26.9%) and men (28.9%) reached LDL-C target. In patients with CVD, 17.2% of women and 25.8% of men reached LDL-C target. Women received less often high-intensity statins and ezetimibe. Most common reported reasons for not achieving the LDL-C target were insufficient effect of maximum LLT (women 17.3%, men 24.3%) and side effects (women 15.2%, men 8.6%).
In routine practice, only a minority of women and men with FH achieved their LDL-C treatment target. Extra efforts have to be made to provide FH patients with reliable information on the safety of statins and their long-term effects on CVD risk reduction. If statin treatment is insufficient, alternative lipid lowering therapies such as ezetimibe or PCSK9-inhibitors should be considered.
摘要：
目标：尽管有降脂治疗（LLT），家族性高胆固醇血症(FH)患者达到LDL-C目标仍然具有挑战性.我们的目的是确定女性和男性FH患者的LDL-C目标水平的实现以及未达到这些目标的原因。
方法：我们在荷兰和挪威的五家医院对杂合FH患者进行了横断面研究。LLT的临床特征和信息，我们从电子病历中回顾性收集了血脂水平和未达到LDL-C治疗目标的原因.
结果：我们研究了3178例FH患者（53.9％的女性），中位年龄48.0（IQR34.0-59.9）岁。女性治疗前和治疗中的LDL-C中位数高于男性（6.2（IQR5.1-7.3）和6.0（IQR4.9-7.2）mmol/l（p=0.005）和3.0（IQR2.4-3.8）和2.8（IQR2.3-3.5）mmol/L（p<0.001），分别。少数女性（26.9％）和男性（28.9％）达到了LDL-C目标。在CVD患者中,17.2%的女性和25.8%的男性达到LDL-C目标。女性接受高强度他汀类药物和依泽替米贝的频率较低。未达到LDL-C目标的最常见报告原因是最大LLT的影响不足（女性17.3％，男性24.3%)和副作用(女性15.2%，男性8.6%)。
结论：在常规实践中，只有少数FH患者的女性和男性达到了LDL-C治疗目标.必须做出额外的努力，为FH患者提供关于他汀类药物安全性及其对降低CVD风险的长期影响的可靠信息。如果他汀类药物治疗不足，应考虑其他降脂治疗,如依泽替米贝或PCSK9抑制剂.
方法：我们在荷兰和挪威的五家医院对杂合FH患者进行了横断面研究。LLT的临床特征和信息，我们从电子病历中回顾性收集了血脂水平和未达到LDL-C治疗目标的原因.
结果：我们研究了3178例FH患者（53.9％的女性），中位年龄48.0（IQR34.0-59.9）岁。女性治疗前和治疗中的LDL-C中位数高于男性（6.2（IQR5.1-7.3）和6.0（IQR4.9-7.2）mmol/l（p=0.005）和3.0（IQR2.4-3.8）和2.8（IQR2.3-3.5）mmol/L（p<0.001），分别。少数女性（26.9％）和男性（28.9％）达到了LDL-C目标。在CVD患者中,17.2%的女性和25.8%的男性达到LDL-C目标。女性接受高强度他汀类药物和依泽替米贝的频率较低。未达到LDL-C目标的最常见报告原因是最大LLT的影响不足（女性17.3％，男性24.3%)和副作用(女性15.2%，男性8.6%)。
结论：在常规实践中，只有少数FH患者的女性和男性达到了LDL-C治疗目标.必须做出额外的努力，为FH患者提供关于他汀类药物安全性及其对降低CVD风险的长期影响的可靠信息。如果他汀类药物治疗不足，应考虑其他降脂治疗,如依泽替米贝或PCSK9抑制剂.
