Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (884 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Conditions with abnormally elevated levels of lipoproteins in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Hyperlipoproteinemia.
Where it fits in the MeSH classification
- Broader topics
- Hyperlipidemias
- Narrower topics
- Hyperlipoproteinemia Type I; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type III; Hyperlipoproteinemia Type IV; Hyperlipoproteinemia Type V
- See also
- Lipoproteins
Related concepts
Research landscape
PubMed indexes 12,675 records tagged with the MeSH heading “Hyperlipoproteinemias” (counts retrieved 2026-10-31). 1,999 of them (15.8%) were published from 2020 onward, and the busiest period so far is through 1999 with 6,251 records.
Reviews account for 2,024 records (16.0%) and meta-analyses for 63. Randomized controlled trials number 510 (4.0%) as a share of all records on the topic.
Show the data
| Period | Records |
|---|---|
| through 1999 | 6,251 |
| 2000-2009 | 1,906 |
| 2010-2019 | 2,519 |
| 2020 onward | 1,999 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 2,024 | 16.0% |
| Meta-analyses | 63 | 0.5% |
| Randomized controlled trials | 510 | 4.0% |
Method: PubMed query "Hyperlipoproteinemias"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-31.
Reading the evidence in metabolism and endocrine disease
Studies of diabetes, obesity and hormone disorders often follow blood tests such as glucose, HbA1c or hormone levels, which are stand-ins for outcomes that matter more, such as complications. Lifestyle and diet research is largely observational, and weight and diabetes trials can differ in how long people were followed. Nothing on this page is advice about medicines, insulin or diet; talk to a qualified clinician about your own situation. Check whether the outcome was a lab value or a clinical event, and the type and duration of the condition studied.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
Inclisiran administration potently and durably lowers LDL-C over an extended-term follow-up: the ORION-8 trial [1]
Abstract reading summary — source excerpts
- Opening excerpt
- AimsData describing the long-term efficacy and tolerability of inclisiran are limited.
- Closing excerpt
- gov identifier: NCT03814187.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (129 words)
AimsData describing the long-term efficacy and tolerability of inclisiran are limited. This was explored in ORION-8, an open-label extension of preceding Phase 2 and Phase 3 placebo-controlled and open-label extension trials.Methods and resultsFollowing completion of the parent trial, adult patients with atherosclerotic cardiovascular disease (ASCVD), ASCVD risk equivalent, or heterozygous familial hypercholesterolaemia received open-label inclisiran twice yearly (after initial and 3-month doses) until Day 990, followed by an end-of-study visit at Day 1080 or ≥ 90 days after the last dose. The study endpoints included the proportion of patients achieving pre-specified low-density lipoprotein cholesterol (LDL-C) goals [ASCVD: ConclusionIn the largest and longest follow-up to date with >12 000 patient-years exposure, inclisiran demonstrated consistent and effective LDL-C lowering with a favourable long-term safety and tolerability profile.Trial registration numberClinicalTrials.gov identifier: NCT03814187.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 38753448 · DOI · PMC11481169
Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia [2]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundHomozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels due to profoundly defective LDL receptor (LDLR) function.
- Closing excerpt
- gov; Unique identifier: NCT04233918.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (255 words)
BackgroundHomozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels due to profoundly defective LDL receptor (LDLR) function. Given that severely elevated LDL-C starts in utero, atherosclerosis often presents during childhood or adolescence, creating a largely unmet need for aggressive LDLR-independent lipid-lowering therapies in young patients with HoFH. Here we present the first evaluation of the efficacy and safety of evinacumab, a novel LDLR-independent lipid-lowering therapy, in pediatric patients with HoFH from parts A and B of a 3-part study.MethodsThe phase 3, part B, open-label study treated 14 patients 5 to 11 years of age with genetically proven HoFH (true homozygotes and compound heterozygotes) with LDL-C >130 mg/dL, despite optimized lipid-lowering therapy (including LDLR-independent apheresis and lomitapide), with intravenous evinacumab 15 mg/kg every 4 weeks.ResultsEvinacumab treatment rapidly and durably (through week 24) decreased LDL-C with profound reduction in the first week, with a mean (SE) LDL-C reduction of -48.3% (10.4%) from baseline to week 24. ApoB (mean [SE], -41.3% [9.0%]), non-high-density lipoprotein cholesterol (-48.9% [9.8%]), and total cholesterol (-49.1% [8.1%]) were similarly decreased. Treatment-emergent adverse events were reported in 10 (71.4%) patients; however, only 2 (14.3%) reported events that were considered to be treatment-related (nausea and abdominal pain). One serious treatment-emergent adverse event of tonsillitis occurred (n=1), but this was not considered treatment-related.ConclusionsEvinacumab constitutes a new treatment for pediatric patients with HoFH and inadequately controlled LDL-C despite optimized lipid-lowering therapy, lowering LDL-C levels by nearly half in these extremely high-risk and difficult-to-treat individuals.RegistrationURL: https://www.clinicaltrials.gov; Unique identifier: NCT04233918.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37860863 · DOI · PMC10814999
Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial [3]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundHomozygous familial hypercholesterolemia is a genetic disease characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular events.
- Closing excerpt
- gov; Unique identifier: NCT03851705.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (288 words)
BackgroundHomozygous familial hypercholesterolemia is a genetic disease characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular events. The proof-of-concept study ORION-2 (A Study of Inclisiran in Participants With Homozygous Familial Hypercholesterolemia) showed that inclisiran, a small interfering RNA that prevents production of the hepatic PCSK9 protein (proprotein convertase subtilisin/kexin type 9), could lead to durable reductions in LDL-C levels when added to statins and ezetimibe in patients with homozygous familial hypercholesterolemia.MethodsORION-5 was a phase 3, 2-part, multicenter study in 56 patients with homozygous familial hypercholesterolemia and elevated LDL-C levels despite maximum tolerated doses of LDL-C-lowering therapies with or without lipoprotein apheresis. Patients eligible for part 1 (double-blind, 6 months) were randomized 2:1 to receive either 300 mg of inclisiran sodium (equivalent to 284 mg of inclisiran) or placebo. Placebo-treated patients from part 1 were transitioned to inclisiran in part 2 (open-label, 18 months). The primary end point was the percentage change in LDL-C levels from baseline to day 150.ResultsThe mean age of the patients was 42.7 years, and 60.7% were women. The mean baseline LDL-C levels were 294.0 mg/dL and 356.7 mg/dL in the inclisiran and placebo groups, respectively. The placebo-corrected percentage change in LDL-C level from baseline to day 150 was -1.68% (95% CI, -29.19% to 25.83%; P=0.90), and the difference was not statistically significant between the inclisiran and placebo groups. The placebo-corrected percentage change in PCSK9 levels from baseline to day 150 was -60.6% with inclisiran treatment (PConclusionsInclisiran treatment did not reduce LDL-C levels in patients with homozygous familial hypercholesterolemia despite substantial lowering of PCSK9 levels. Inclisiran was well-tolerated, and the safety findings were consistent with previously reported studies and the overall safety profile.RegistrationURL: https://www.clinicaltrials.gov; Unique identifier: NCT03851705.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37850379 · DOI · PMC10815002
Inclisiran in Patients with CKD: Post Hoc Pooled Analysis of Three Phase 3 Trials [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Key pointsInclisiran for LDL cholesterol reduction was analyzed post hoc in patients with CKD.
- Closing excerpt
- gov, ORION-9 ( NCT03397121 ), ORION-10 ( NCT03399370 ), and ORION-11 ( NCT03400800 ).
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (212 words)
Key pointsInclisiran for LDL cholesterol reduction was analyzed post hoc in patients with CKD. Mean percentage LDL cholesterol reduction from baseline was around 50% regardless of eGFR in phase 3 trials. Inclisiran showed sustained and effective LDL cholesterol-lowering in patients across various levels of eGFR values, without new safety findings.BackgroundLowering LDL cholesterol reduces the risk of atherosclerotic cardiovascular disease in patients with CKD. The efficacy and safety of inclisiran versus placebo in patients without and with CKD were investigated in a post hoc pooled analysis of three phase 3 trials (ORION-9, ORION-10, and ORION-11).MethodsPatients with heterozygous familial hypercholesterolemia, atherosclerotic cardiovascular disease or its risk equivalent, and elevated LDL cholesterol were randomized 1:1 to subcutaneous inclisiran or placebo on days 1 and 90 and every 6 months thereafter for 540 days. Patients were stratified based on baseline eGFR (by CKD Epidemiology Collaboration equation): ≥90, 60 to ResultsOf 3660 patients, 1610 (44%) had eGFR ≥90, 1608 (44%) 60 to ConclusionsInclisiran demonstrated sustained and effective LDL cholesterol reduction in patients with or at risk of atherosclerotic cardiovascular disease, regardless of baseline eGFR as low as 15 ml/min per 1.73 m 2 , without new safety findings.Clinical trial registry name and registration numberClinicalTrials.gov, ORION-9 ( NCT03397121 ), ORION-10 ( NCT03399370 ), and ORION-11 ( NCT03400800 ).
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41604274 · DOI · PMC13337159
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel [5]
- Research article Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects [6]
- Research article Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis [7]
- Research article Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel [8]
- Research article 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance [9]
- Research article Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis [10]
References
- Wright RS, Raal FJ, Koenig W, Landmesser U, Leiter LA, Vikarunnessa S, et al.. Inclisiran administration potently and durably lowers LDL-C over an extended-term follow-up: the ORION-8 trial. . 2024. PMID 38753448 · DOI · PMC11481169
- Wiegman A, Greber-Platzer S, Ali S, Reijman MD, Brinton EA, Charng MJ, et al.. Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia. . 2024. PMID 37860863 · DOI · PMC10814999
- Raal F, Durst R, Bi R, Talloczy Z, Maheux P, Lesogor A, et al.. Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial. . 2024. PMID 37850379 · DOI · PMC10815002
- Landmesser U, Ray KK, Raal FJ, Garcia Conde L, Han J, Koenig W, et al.. Inclisiran in Patients with CKD: Post Hoc Pooled Analysis of Three Phase 3 Trials. . 2026. PMID 41604274 · DOI · PMC13337159
- Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, et al.. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol. 2018. PMID 30071997 · DOI
- Beheshti SO, Madsen CM, Varbo A, Nordestgaard BG. Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects. J Am Coll Cardiol. 2020. PMID 32439005 · DOI
- Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF, et al.. Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis. Circulation. 2020. PMID 32468833 · DOI
- Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, et al.. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016. PMID 27246162 · DOI
- Cuchel M, Raal FJ, Hegele RA, Al-Rasadi K, Arca M, Averna M, et al.. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J. 2023. PMID 37130090 · DOI · PMC10314327
- Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al.. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017. PMID 28864697 · DOI · PMC5588988
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.