家族性高胆固醇血症患者的转诊率、特征和控制程度：来自地中海地区一个单一脂质单位的数据。
Referral rate, profile and degree of control of patients with familial hypercholesterolemia: data from a single lipid unit from a Mediterranean area.
机构信息
Department of Endocrinology, Internal Medicine Service, Hospital Universitari d'Igualada, Consorci Sanitari de l'Anoia, Avinguda de Catalunya, 11, Igualada, Barcelona, 08700, Spain.
Unit of lipids and cardiovascular risk, University Hospital of Igualada, Barcelona, Spain.
出版信息
Lipids Health Dis. 2023 May 11;22(1):62. doi: 10.1186/s12944-023-01815-1.
BACKGROUND
The challenging rigorous management of hypercholesterolemia promotes referral to specialized units. This study explored the need, based on referral rate and cardiovascular (CV) risk factor control in patients evaluated for familial hypercholesterolemia (FH), for a lipid unit (LU).
METHODS
Over a four-year period, 340 referrals to our unit were analyzed to establish the lipid disorder referral rate. Moreover, 118 patients referred for potential FH during the period 2010-2018 (52.4 ± 13.9 years, 47.5% male, Caucasian, 26.3% obese, 33.1% smokers and 51.7% with some glycaemic alteration) were investigated. The Dutch Lipid Clinic Network (DLCN) score, type and dose of lipid-lowering drugs, lipid profile including lipoprotein (a) (Lp(a)) and the presence of plaques with carotid ultrasound (CU) were recorded.
RESULTS
Lipids represented 6.2% of referrals (38 patient-years) requiring a 2-3 h weekly monographic outpatient consultation. The potential FH sample displayed a DLCN score ≥ 6 in 78% and modifiable CV risk factors in 51%. Only 22% achieved tight disease control despite intensive treatment. The statin-ezetimibe combination treatment group achieved better goals (73.0% vs. 45.5%, P = 0.003), and the rosuvastatin group had a higher proportion of prediabetes (60.9% vs. 39.1%, P = 0.037). Neither CU plaque presence nor Lp(a) > 50 mg/dL was linked with established CV disease patients, but higher Lp(a) concentrations were detected between them (102.5 (26.3-145.8) vs. 25.0 (13.0-52.0) mg/dL, P = 0.012).
CONCLUSIONS
The referral rate, degree of control, and proportion of modifiable CV risk factors in FH patients demonstrate the need for LU in our area as well as optimize control and treatment.
背景
对高胆固醇血症的严格管理具有挑战性，这促使患者转诊至专业科室。本研究旨在探讨脂质单位（lipid unit，LU）建立的必要性，其依据为家族性高胆固醇血症（familial hypercholesterolemia，FH）患者的转诊率和心血管（cardiovascular，CV）风险因素控制情况。
方法
对本单位 340 例转诊患者进行了为期 4 年的分析，以确定血脂异常的转诊率。此外，还对 2010 年至 2018 年期间转诊的 118 例可能患有 FH 的患者（52.4±13.9 岁，47.5%为男性，白种人，26.3%肥胖，33.1%吸烟，51.7%存在某种血糖改变）进行了调查。记录了荷兰血脂诊所网络（Dutch Lipid Clinic Network，DLCN）评分、降脂药物的类型和剂量、血脂谱（包括脂蛋白（a）[lipoprotein（a）]）和颈动脉超声（carotid ultrasound，CU）斑块的存在情况。
结果
脂质占转诊人数（38 例患者年）的 6.2%，需要每周进行 2-3 小时的专题门诊咨询。FH 患者的潜在样本中，78%的患者 DLCN 评分≥6，51%的患者存在可改变的 CV 危险因素。尽管进行了强化治疗，但只有 22%的患者达到了严格的疾病控制标准。他汀类药物联合依折麦布治疗组达到了更好的目标（73.0% vs. 45.5%，P=0.003），而瑞舒伐他汀组的糖尿病前期比例更高（60.9% vs. 39.1%，P=0.037）。颈动脉 CU 斑块的存在或脂蛋白（a）＞50mg/dL 与已确诊的 CV 疾病患者无关，但前者脂蛋白（a）浓度更高（102.5（26.3-145.8）vs. 25.0（13.0-52.0）mg/dL，P=0.012）。
结论
FH 患者的转诊率、控制程度和可改变的 CV 危险因素比例表明，本地区需要建立 LU，并优化控制和治疗。
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