Lewek Joanna, Konopka Agnieszka, Starostecka Ewa, Penson Peter E, Maciejewski Marek, Banach Maciej
Department of Preventive Cardiology and Lipidology, Chair of Nephrology and Hypertension, Medical University of Lodz, 93-338 Lodz, Poland.
Department of Cardiology and Adult Congenital Heart Diseases, Polish Mother's Memorial Hospital Research Institute (PMMHRI), 93-338 Lodz, Poland.
J Clin Med. 2021 Sep 22;10(19):4302. doi: 10.3390/jcm10194302.
Familial hypercholesterolemia (FH) is a genetic autosomal co-dominant metabolic disorder leading to elevated circulating concentrations of low-density lipoprotein cholesterol (LDL-C). Early development of atherosclerotic cardiovascular disease (ASCVD) is common in affected patients. We aimed to evaluate the characteristics and differences in the diagnosis and therapy of FH children and adults. : All consecutive patients who were diagnosed with FH, both phenotypically and with genetic tests, were included in this analysis. All patients are a part of the European Atherosclerosis Society FH-Study Collaboration (FHSC) regional center for rare diseases at the Polish Mother's Memorial Hospital Research Institute (PMMHRI) in Lodz, Poland. : Of 103 patients with FH, there were 16 children (15.5%) at mean age of 9 ± 3 years and 87 adults aged 41 ± 16; 59% were female. Children presented higher mean levels of total cholesterol, LDL-C, and high-density lipoprotein cholesterol (HDL-C) measured at the baseline visit (TC 313 vs. 259 mg/dL (8.0 vs. 6.6 mmol/L), = 0.04; LDL 247 vs. 192 mg/dL (6.3 vs. 4.9 mmol/L), = 0.02, HDL 53 vs. 48 mg/dL (1.3 vs. 1.2 mmol/L), = 0.009). Overall, 70% of adult patients and 56% of children were prescribed statins (rosuvastatin or atorvastatin) on admission. Combination therapy (dual or triple) was administered for 24% of adult patients. Furthermore, 13.6% of adult patients and 19% of children reported side effects of statin therapy; most of them complained of muscle pain. Only 50% of adult patients on combination therapy achieved their treatment goals. None of children achieved the treatment goal.
Despite a younger age of FH diagnosis, children presented with higher mean levels of LDL-C than adults. There are still urgent unmet needs concerning effective lipid-lowering therapy in FH patients, especially the need for greater use of combination therapy, which may allow LDL-C targets to be met in most of the patients.
家族性高胆固醇血症（FH）是一种常染色体共显性遗传代谢紊乱疾病，可导致循环中低密度脂蛋白胆固醇（LDL-C）浓度升高。动脉粥样硬化性心血管疾病（ASCVD）在受影响患者中早期发病很常见。我们旨在评估FH儿童和成人在诊断和治疗方面的特征及差异。
本分析纳入了所有经表型和基因检测确诊为FH的连续患者。所有患者均为波兰罗兹市波兰母亲纪念医院研究所（PMMHRI）欧洲动脉粥样硬化学会FH研究协作组（FHSC）罕见病区域中心的一部分。
在103例FH患者中，有16名儿童（15.5%），平均年龄为9±3岁，87名成人，年龄为41±16岁；59%为女性。儿童在基线访视时测得的总胆固醇、LDL-C和高密度脂蛋白胆固醇（HDL-C）平均水平更高（总胆固醇313 vs. 259 mg/dL（8.0 vs. 6.6 mmol/L），P = 0.04；LDL 247 vs. 192 mg/dL（6.3 vs. 4.9 mmol/L），P = 0.02，HDL 53 vs. 48 mg/dL（1.3 vs. 1.2 mmol/L），P = 0.009）。总体而言，70%的成年患者和56%的儿童在入院时被处方使用他汀类药物（瑞舒伐他汀或阿托伐他汀）。24%的成年患者接受了联合治疗（双联或三联）。此外，13.6%的成年患者和19%的儿童报告了他汀类药物治疗的副作用；他们大多抱怨肌肉疼痛。接受联合治疗的成年患者中只有50%达到了治疗目标。儿童均未达到治疗目标。
尽管FH诊断年龄较小，但儿童的LDL-C平均水平高于成人。FH患者在有效的降脂治疗方面仍有迫切未满足的需求，特别是需要更多地使用联合治疗，这可能使大多数患者达到LDL-C目标。
