Hyperlipoproteinemia Type II
Recent clinical, regulatory, research and industry developments relating to this disease.
In vivo base editing gene therapy for heterozygous familial hypercholesterolemia: a phase 1 trial.
Gene therapy and genome editing for lipoprotein disorders.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- Active recent publication activity, including 1 notable finding.
Research HighlightsViewHide
- 2026-03-03In vivo base editing gene therapy for heterozygous familial hypercholesterolemia: a phase 1 trial.Wan P · 2026
- 2025-09-01Gene therapy and genome editing for lipoprotein disorders.Gurevitz C · 2025
- 2026-03-03ResearchIn vivo base editing gene therapy for heterozygous familial hypercholesterolemia: a phase 1 trial.Wan P · 2026
- 2025-09-01ResearchGene therapy and genome editing for lipoprotein disorders.Gurevitz C · 2025
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes3
- Genetic Therapy2
- Gene Editing1
- Hyperlipoproteinemia Type II1
Leading journals4
- European heart journal2
- Circulation1
- Circulation. Genomic and precision medicine1
- Nature medicine1
Leading researchers8
- Musunuru K2
- Watts GF2
- Averna M1
- Bajaj A1
- Boileau C1
- Borén J1
- Bruckert E1
- Catapano AL1
Affiliations (unnormalised)6
- Brigham and Women's Hospital1
- Cardiovascular Institute1
- Clinical Development1
- Department of Clinical Biochemistry1
- Hannover Medical School1
- Icahn School of Medicine at Mount Sinai1
Disease biology
Key proteins & gene products studied in this disease. Number shows shared papers.
Related conditions
Diseases frequently studied alongside this one. Number shows shared papers.
Disease profile
A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.
Hyperlipoproteinemia type II is a familial disorder characterized by elevated circulating cholesterol, primarily in low-density lipoproteins and sometimes also in very-low-density lipoproteins. In the supplied literature, it is discussed in the context of familial hypercholesterolemia and inherited lipid disorders.
It is a familial disorder with a genetic basis. The grounding supports heterozygous forms of the condition and broader inherited lipid-disorder genetics, but does not specify individual causal genes or variants.
The disorder involves abnormal elevation of LDL cholesterol in blood, with some cases also showing increased VLDL-related cholesterol. The literature grounding links this to inherited defects in lipoprotein metabolism and to genetic pathways that drive lipoprotein disorder biology.
A family history or inherited predisposition is supported by the grounding, including heterozygous familial disease. The literature also indicates that affected individuals may be underdiagnosed, but it does not provide additional risk factors.
Management is described at the level of lipid-lowering therapy and screening for familial hypercholesterolemia. The grounding also supports genetic testing as part of inherited cardiovascular disease care, and notes emerging gene-based therapies such as RNA-based, gene addition, and gene-editing approaches for lipoprotein disorders.
AI-generated summary grounded in MeSH and 4 peer-reviewed sources. Informational only — not medical advice. Generated 2026-07-07.
Reference
Authoritative identity, definition & identifiers.
A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.