三种诊断评分系统对不同原因持续性乳糜微粒血症的疗效比较

IF 3.6 3区医学 Q2 PHARMACOLOGY & PHARMACY

Journal of clinical lipidology Pub Date : 2025-05-01 DOI:10.1016/j.jacl.2025.04.034

Miriam Larouche MSc, Christie Ballantyne MD, Daniel Gaudet MD, Diane Brisson PhD

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引用次数: 0

摘要

背景/简介家族性乳糜微粒血症综合征（FCS）是一种罕见的乳糜微粒血症（TG>1000 mg/dL）的综合征性病因，尽管治疗了继发性原因并使用了常规降脂治疗，但仍持续存在。FCS影响LPL基因机制中致病变异双等位基因组合的携带者。大量持续性乳糜微粒血症患者不符合这一遗传标准，尽管他们表现出所有的FCS特征（临床FCS），而其他乳糜微粒血症患者（持续性或发作性）表现出不同的特征（MCS）。针对持续性乳糜微粒血症的新兴治疗方法得到了发展。临床诊断评分系统已被提出，以帮助临床医生准确区分FCS和MCS患者。目的/目的本研究的目的是评估3个已发表的FCS诊断评分系统区分双等位基因FCS与其他形式的持续性乳糜小红细胞血症的能力。方法采用已发表的3种FCS诊断评分系统对52例持续性乳糜微粒血症患者进行敏感性和特异性评价。对所有患者的fcs致病基因进行测序。法裔加拿大人（模型A） FCS诊断评分临界值≥9，欧洲人（模型B） FCS诊断评分临界值≥10，北美FCS评分系统（模型C） FCS诊断评分临界值≥60。结果没有一个评分系统能很好地区分经基因证实的FCS与其他形式的持续性乳糜小红细胞血症。模型A和模型B表现相似(特异性[95%CI]: 0[0 - 23.2]和21.4 [4.7 - 50.8]；敏感性：分别为92.1[78.6-98.3]和86.8[71.9-95.6])。模型C具有很高的特异性（100[76.8-100]），但相对较低的敏感性（63.2[46.0-78.2]）。结论sfcs临床诊断评分系统能较好地识别FCS患者的特征，但不能轻易区分基因证实的FCS和临床FCS。持续性MCS患者目前得分较低，但也代表了一种未满足的医疗需求，应该在获得创新的精确疗法方面得到类似的治疗。

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Comparison of the performance of three diagnosis scoring systems in patients with persistent chylomicronemia of different causes

Background/Synopsis

Familial chylomicronemia syndrome (FCS) is a rare syndromic cause of chylomicronemia (TG>1000 mg/dL) that persists despite treatment of secondary causes and the use of conventional lipid lowering treatment. FCS affects carriers of bi-allelic combinations of pathogenic variants in the LPL gene machinery. A significant number of individuals with persistent chylomicronemia do not meet this genetic criterion although presenting all FCS characteristics (clinical FCS) while other chylomicronemic patients (persistent or episodic) present different characteristics (MCS). Emerging treatments targeting persistent chylomicronemia are developed. Clinical diagnosis scoring systems have been proposed to help clinicians to accurately differentiate FCS from MCS patients.

Objective/Purpose

The objective of this study was to assess the ability of 3 published FCS diagnosis scoring systems to discriminate biallelic FCS from other forms of persistent chylomicronemia.

Methods

Sensitivity and specificity of 3 published FCS diagnosis scoring systems were evaluated in 52 patients with persistent chylomicronemia. FCS-causing genes were sequenced in all patients. FCS diagnosis score cut-off values were ≥ 9 in the French-Canadian (model A), ≥ 10 in the European (model B) and ≥ 60 in the North American (model C) FCS scoring systems.

Results

None of the scoring systems perfectly discriminated genetically proven FCS from other forms of persistent chylomicronemia. Models A and B presented similar performance (specificity [95%CI]: 0 [0 – 23.2] and 21.4 [4.7 – 50.8]; sensitivity: 92.1 [78.6-98.3] and 86.8 [71.9-95.6], respectively). Model C showed very high specificity (100 [76.8-100]) but relatively low sensitivity (63.2 [46.0-78.2]).

Conclusions

FCS clinical diagnosis scoring systems fairly identifiy patients presenting features of FCS without having the ability to easily distinguish beween genetically proven FCS and clinical FCS. Patients with persistent MCS present low scores but also represent an unmet medical need that should be treated similarly with respect to access to innovative precision therapies.

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来源期刊

Journal of clinical lipidology 医学-药学

CiteScore

7.00

自引率

6.80%

发文量

209

审稿时长

49 days

期刊介绍： Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. Sections of Journal of clinical lipidology will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.