School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia.
Department of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
Heart Lung Circ. 2021 Mar;30(3):372-379. doi: 10.1016/j.hlc.2020.07.012. Epub 2020 Aug 29.
Familial hypercholesterolaemia (FH) is under-diagnosed and under-treated worldwide, including Australia. National registries play a key role in identifying patients with FH, understanding gaps in care and advancing the science of FH to improve care for these patients.
The FH Australasia Network has established a national web-based registry to raise awareness of the condition, facilitate service planning and inform best practice and care services in Australia. We conducted a cross-sectional analysis of 1,528 FH adults enrolled in the registry from 28 lipid clinics.
The mean age at enrolment was 53.4±15.1 years, 50.5% were male and 54.3% had undergone FH genetic testing, of which 61.8% had a pathogenic FH-causing gene variant. Only 14.0% of the cohort were family members identified through cascade testing. Coronary artery disease (CAD) was reported in 28.0% of patients (age of onset 49.0±10.5 years) and 64.9% had at least one modifiable cardiovascular risk factor. The mean untreated LDL-cholesterol was 7.4±2.5 mmol/L. 80.8% of patients were on lipid-lowering therapy with a mean treated LDL-cholesterol of 3.3±1.7 mmol/L. Among patients receiving lipid-lowering therapies, 25.6% achieved an LDL-cholesterol target of <2.5 mmol/L without CAD or <1.8 mmol/L with CAD.
Patients in the national FH registry are detected later in life, have a high burden of CAD and risk factors, and do not achieve guideline-recommended LDL-cholesterol targets. Genetic and cascade testing are under-utilised. These deficiencies in care need to be addressed as a public health priority.
家族性高胆固醇血症（FH）在全球范围内都存在漏诊和治疗不足的情况，包括澳大利亚。国家登记处在识别 FH 患者、了解护理差距和推进 FH 科学以改善这些患者的护理方面发挥着关键作用。
FH 澳大拉西亚网络已经建立了一个全国性的基于网络的登记处，以提高对该病的认识，促进服务规划，并为澳大利亚提供最佳实践和护理服务。我们对来自 28 个血脂诊所的 1528 名 FH 成年患者进行了横断面分析。
登记时的平均年龄为 53.4±15.1 岁，50.5%为男性，54.3%接受了 FH 基因检测，其中 61.8%有致病性 FH 致病基因变异。仅 14.0%的患者是通过级联检测确定的亲属。28.0%的患者报告有冠心病（CAD）（发病年龄 49.0±10.5 岁），64.9%有至少一个可改变的心血管危险因素。未治疗的 LDL-胆固醇平均为 7.4±2.5 mmol/L。80.8%的患者接受降脂治疗，平均治疗后的 LDL-胆固醇为 3.3±1.7 mmol/L。在接受降脂治疗的患者中，25.6%的患者在没有 CAD 的情况下 LDL-胆固醇目标达到<2.5 mmol/L，或在有 CAD 的情况下 LDL-胆固醇目标达到<1.8 mmol/L。
国家 FH 登记处的患者在生命后期被发现，患有高 CAD 和危险因素负担，且未达到指南推荐的 LDL-胆固醇目标。基因和级联检测的利用率较低。这些护理方面的不足需要作为公共卫生的重点来解决。
