纯合家族性高胆固醇血症
Homozygous familial hypercholesterolemia
定义
本病是一种罕见的脂质代谢障碍，其特征是低密度脂蛋白胆固醇水平严重升高，随后在冠状动脉、近端主动脉和其他动脉中过早形成动脉粥样硬化斑块，导致早期心血管疾病风险限制增加。皮肤和肌腱的黄色瘤也是本病的标志。由于早期并发症，尤其是心肌梗死，本病致死率很高。
别名
HoFH
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 1 000 000（Japan）
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ABCG5 | ATP binding cassette subfamily G member 5 | Candidate gene tested in |
| ABCG8 | ATP binding cassette subfamily G member 8 | Candidate gene tested in |
| APOB | apolipoprotein B | Disease-causing germline mutation(s) in |
| LDLR | low density lipoprotein receptor | Disease-causing germline mutation(s) in |
| LDLRAP1 | low density lipoprotein receptor adaptor protein 1 | Disease-causing germline mutation(s) in |
| PCSK9 | proprotein convertase subtilisin/kexin type 9 | Disease-causing germline mutation(s) in |
临床表型 33
必现 100%3
- 高胆固醇血症 HP:0003124
- 高脂血症 HP:0003077
- 高β-脂蛋白血症 HP:0003141
极常见 99–80%2
- 早发性动脉粥样硬化 HP:0004416
- 早发性动脉粥样硬化 HP:0005177
常见 79–30%17
- 颈内动脉形态异常 HP:3000062
- 左心室功能异常 HP:0005162
- 肌腱形态异常 HP:0100261
- 心绞痛 HP:0001681
- 早发冠状动脉粥样硬化 HP:0012397
- 脑动脉粥样硬化 HP:0007201
- 冠状动脉粥样硬化 HP:0001677
- 呼吸困难 HP:0002094
- 心脏杂音 HP:0030148
- 肝脂肪变性 HP:0001397
- 高血压 HP:0000822
- 心肌梗死 HP:0001658
- 心肌脂肪变性 HP:0006693
- 外周动脉狭窄 HP:0004950
- 早发性冠心病 HP:0005181
- 肾动脉狭窄 HP:0001920
- 心脏性猝死 HP:0001645
偶见 29–5%7
- 关节疼痛 HP:0002829
- 主动脉钙化 HP:0004963
- 二尖瓣反流 HP:0001653
- 肾脂肪变性 HP:0000799
- 主动脉瓣上狭窄 HP:0004381
- 腱黄瘤病 HP:0010874
- 黄瘤病 HP:0000991
罕见 <4–1%4
- 眼部生理异常 HP:0012373
- 神经系统生理功能异常 HP:0012638
- 冠状动脉瘤 HP:0030882
- 视神经病变 HP:0001138
近两年的全球研究 461L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08Intravascular Ultrasound-Guided Stenting of the Left Main Coronary Artery in a Pediatric Patient with Homozygous Familial Hypercholesterolemia
- 2026-07The Spanish Atherosclerosis Society Dyslipidaemia Registry: Evolution, real-world evidence, and its role in precision medicine. Current status in 2026
- 2026-07综述The Angiopoietin-like Protein (ANGPTL) Axis in Dyslipidemia: Mechanisms, Cardiovascular Risk, and Emerging Therapies
- 2026-07病例报告Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report
- 2026-07Efficacy and Safety of Evinacumab in Japanese Patients with Homozygous Familial Hypercholesterolemia: Long-term Results from an Open-label, Single-arm, Phase 3 Trial
- 2026-06综述Lipoprotein apheresis: From familial hypercholesterolemia and elevated lipoprotein(a) to emerging roles in peripheral arterial and renal disease
- 2026-06病例报告Anterior STEMI Revealing Homozygous Familial Hypercholesterolemia With Supravalvular Aortic Stenosis
- 2026-06综述Synergistic "targeting and blockade" strategy via engineered exosomes and clinical ultrasound contrast agent for hepatocyte-targeted mRNA delivery
- 2026-06开放获取A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration
- 2026-06LDL receptor-mediated lipoprotein uptake fuels human CD4+ T cell polarization toward a c-MAF/IL-10- and FOXP3-driven phenotype
- 2026-06综述开放获取Familial Hypercholesterolemia in Women: Diagnosis, Treatment, and Cardiovascular Outcomes Across the Lifespan
- 2026-06AAV gene therapy for homozygous familial hypercholesterolemia: a phase 1 trial
- 2026-06综述Cardiac Lipid Metabolism: Cells, Metabolites, and Rhythms
- 2026-06综述New and Emerging Therapeutic Targets for ApoB-Containing Particles Lowering
- 2026-06综述Translating Lipoprotein Genetics Into New Therapies
- 2026-06综述开放获取Dyslipidemia and Retinal Microvascular Health in Children and Adolescents: A Systematic Review
- 2026-06综述开放获取Revisiting the Lipid–Cancer Axis: PCSK9, ANGPTL3, and CETP as Emerging Biomarkers and Therapeutic Targets in Oncology
- 2026-06综述开放获取Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia
- 2026-06Abstract
- 2026-06开放获取Atherosclerosis at Warp Speed: The Urgent Lessons of Homozygous Familial Hypercholesterolemia
境外已获批用于本病的药物 9L2
欧盟 2 项、美国 7 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Lojuxta欧盟2013-07-31lomitapide官方记录
- Evkeeza欧盟2021-06-17evinacumab官方记录
- Juxtapid美国2012-12-21lomitapide官方记录
- KYNAMRO美国2013-01-29mipomersen官方记录
- Repatha美国2015-08-27evolocumab官方记录
- Crestor美国2016-05-27rosuvastatin官方记录
- Evkeeza美国2021-02-11evinacumab-dgnb官方记录
- Praluent美国2021-04-01alirocumab官方记录
- Leqvio美国2026-02-12inclisiran官方记录
已获孤儿药资格、尚未获批的在研药物（10 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Sodium dichloroacetate美国1990-06-11Treatment of homozygous familial hypercholesterolemia.官方记录
- Adeno-Associated Viral Vector Expressing Low-Density Lipoprotein Recep美国2012-01-31Treatment of homozygous familial hypercholesterolemia官方记录
- apolipoprotein E mimetic peptide美国2012-12-03Treatment of homozygous familial hypercholesterolemia官方记录
- gemcabene美国2014-02-06Treatment of homozygous familial hypercholesterolemia官方记录
- 2-[4-[[(2R)-2-ethoxy-3-[4-(trifluoromethyl)phenoxy]propyl]thio]-2-meth美国2015-03-18Treatment of homozygous familial hypercholesterolemia (HoFH)官方记录
- apolipoprotein E mimetic peptide (AEM-28(R)-14)美国2017-08-07Treatment of homozygous familial hypercholesterolemia (HoFH)官方记录
- Double stranded oligomer RNA interference-based liver targeted therape美国2019-07-15Treatment of homozygous familial hypercholesterolemia官方记录
- bempedoic acid美国2021-04-05Treatment of homozygous familial hypercholesterolemia官方记录
- mRNA encoding the cholesterol degrading platform (CDP) fusion protein美国2025-05-15treatment of homozygous familial hypercholesterolemia (HoFH)官方记录
- recombinant adeno-associated virus serotype 8 vector encoding human lo美国2025-08-14treatment of homozygous familial hypercholesterolemia官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 13L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 5
- 招募中NCT06125847NGGT006 Gene Therapy for Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Xi'an
- 招募中NCT06597006Study to Evaluate Safety, Tolerability and Efficacy of Inclisiran in Children With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Beijing
- 尚未开始招募NCT07133815Evaluate the Long-term Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Changsha
- 招募中NCT07489209A Dose-exploration Study of EDP167 in HoFH中国研究中心 1 个：Beijing
- 招募中NCT07591298Phase II Clinical Trial to Evaluate the Efficacy and Safety of SYH2070 Injection in Participants With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Changsha
其他状态的试验（8 项）
- 已完成NCT01878604Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Changsha
- 已完成NCT03933293A Study to Evaluate the Safety and Efficacy of the PCSK9 Inhibitor AK102 in Patients With HoFH中国研究中心 2 个：Beijing
- 已完成NCT04031742A Study to Evaluate Safety and Efficacy of IBI306, a PCSK9 Monoclonal Antibody in Chinese Subjects With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Beijing
- 状态未知NCT04948008Evaluate the Efficacy and Safety of IBI306 in Subjects With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Shenzhen
- 已完成NCT04515927To Evaluate the Efficacy and Safety of JS002 in HoFH Patients中国研究中心 1 个：Beijing
- 已完成NCT06009393Evaluate the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Changsha
- 进行中·不再招募NCT06712771A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of VSA003 in Chinese HoFH Patients中国研究中心 1 个：Beijing
- 已完成NCT06723652A Multicenter, Randomized, Double-blind, Placebo-controlled Phase III Clinical Study Evaluating the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia中国研究中心 1 个：Changsha
中国境外的在招试验 13L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国5荷兰3法国2意大利2土耳其2英国2南非2西班牙2澳大利亚1新西兰1阿根廷1巴西1加拿大1捷克1另有 14 个国家/地区
CT.gov 报告命中 13 项，此处取回并展示最近的 8 项。
- 尚未开始招募NCT07473843Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
- 招募中NCT07447648Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)法国、意大利、荷兰、土耳其
- 招募中NCT07470723The ORIGIN-FH Study美国
- 招募中NCT07491172A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias澳大利亚、新西兰、英国、美国
- 招募中NCT05682378Long-term Safety and Tolerability of Inclisiran in Participants With HeFH or HoFH Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20, or ORION-19 Studies阿根廷、巴西、加拿大、捷克、法国、德国、希腊、匈牙利 等 26 国
- 招募中NCT04815005HoFH, the International Clinical Collaborators Registry荷兰、南非、美国
- 招募中NCT04370899Early Detection of Familial Hypercholesterolemia in Children西班牙
- 招募中NCT01109368The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository美国
外部标识与链接
OrphanetOMIM:143890OMIM:144010OMIM:602247MONDO:0018328GARD:10416ICD-10 E78.0ICD-11 5C80.00ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）