Homozygous familial hypercholesterolemiaNews & Research
15 curated articles for Homozygous familial hypercholesterolemia — FDA updates, peer-reviewed research, clinical-trial milestones, and sponsor press releases. Sorted newest-first.
- Journal of clinical lipidology Apr 19, 2026
A case of presumed homozygous familial hypercholesterolemia.
We present a case of a young adult diagnosed with homozygous familial hypercholesterolemia despite a normal lipid panel. A deeper dive into the details of the genotype resulted in recharacterization of the genetic diagnosis. The observed phenotype-genotype discordance reflects the importan...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Journal of clinical lipidology Apr 19, 2026
LDL-C target achievement after adding evinacumab in 2 patients with autosomal recessive hypercholesterolemia.
Autosomal recessive hypercholesterolemia (ARH) is a rare form of genetic hypercholesterolemia consequent to pathogenic variants in the low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) gene, coding for a protein responsible for moving low-density lipoprotein-receptor (LDL-R) to its s...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Nature cardiovascular research Apr 17, 2026
50 years of apheresis for homozygous familial hypercholesterolemia.
50 years of apheresis for homozygous familial hypercholesterolemia.
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Journal of clinical medicine research Apr 9, 2026
Novel Approaches to Lipid Management: Beyond Statins and PCSK9 Inhibitors.
The statins remain the foundation of lipid management because they lower low-density lipoprotein cholesterol (LDL-C) and prevent cardiovascular events, and guidelines recommend stepwise intensification, often with ezetimibe first, when targets are not met or when intolerance limits dosing. This revi...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- European journal of preventive cardiology Mar 27, 2026
Evinacumab with or without lipoprotein apheresis in homozygous familial hypercholesterolaemia.
Homozygous familial hypercholesterolaemia (HoFH) is characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C). Most individuals with HoFH do not reach LDL-C targets with standard lipid-lowering therapies (LLTs). However, low density lipoprotein receptor (LDLR)-independent LLTs h...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Expert Opin Drug Discov Mar 26, 2026
The impact of antisense oligonucleotide (ASO) therapeutics on the future of rare disease drug discovery
Published in Expert Opin Drug Discov. Ruchi R et al.
Why it matters: Recent peer-reviewed research relevant to rare disease diagnosis or treatment.
- Atherosclerosis Mar 19, 2026
Assessment of LDL receptor-dependent lipid lowering therapies in patients with homozygous familial hypercholesterolemia according to functional genotype.
Patients with homozygous familial hypercholesterolemia (HoFH) respond to standard lipid lowering therapy (LLT) poorly due to biallelic abnormalities affecting low-density lipoprotein receptor (LDLR) function. Relatively little information stratified by functional genotyping is available. We evaluate...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Current opinion in lipidology Mar 7, 2026
Update on genetics of familial hypercholesterolemia.
Familial hypercholesterolemia is a monogenic Mendelian disorder characterized by elevated LDL cholesterol and premature atherosclerotic cardiovascular disease. It is caused by pathogenic variants in LDLR , APOB , and PCSK9 , with rarer involvement of LDLRAP1 and APOE . Despite advances in molecular ...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Journal of clinical lipidology Mar 6, 2026
Effects of evinacumab on high-density lipoprotein function in patients with homozygous familial hypercholesterolemia.
The effects of evinacumab on high-density lipoprotein (HDL) function remains unclear. We aimed to clarify the effects of evinacumab on HDL function. Serum cholesterol uptake capacity (CUC) levels, which represent HDL function were determined using our original cell-free assay before and after the in...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Journal of atherosclerosis and thrombosis Mar 5, 2026
Evinacumab Improved the Homozygous Familial Hypercholesterolemia Lipid Metabolism: A Case Report.
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of early onset atherosclerosis. Evinacumab, an angiopoietin-like protein 3 (ANGPTL3)-inhibiting monoclonal antibody, lowers LDL-C ...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- JACC. Advances Feb 26, 2026
Aortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry.
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extreme elevations in low-density lipoprotein cholesterol levels and premature cardiovascular disease. The objective of this study was to assess the prevalence, clinical presentation, and current therapeutic ...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Journal of cardiothoracic surgery Feb 21, 2026
Cryopreserved aortic homograft root replacement for supravalvular root stenosis in familial homozygous hypercholesterolemia.
Homozygous familial hypercholesterolemia is a genetic disorder resulting in severe elevations of the total cholesterol that is frequently associated with complex aortic root stenosis and small aortic valve annulus. The few reported surgical approaches included variations of mechanical valve/root rep...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- JAMA cardiology Feb 11, 2026
Anti-ANGPTL3 Antibody SHR-1918 for Homozygous Familial Hypercholesterolemia: A Nonrandomized Clinical Trial.
Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening genetic disorder. Patients with HoFH have markedly elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, and their activity of LDL receptor (LDLR) is typically absent or severely impaired. However, efficacy...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Atherosclerosis Feb 6, 2026
Evinacumab in patients aged 5-17 years with homozygous familial hypercholesterolemia.
Children and adolescents with homozygous familial hypercholesterolemia (HoFH) routinely require advanced lipid-lowering therapies (LLTs). We assess the long-term efficacy and safety of evinacumab, a novel LLT, in children and adolescents with HoFH. Study 17100 (NCT04233918) was a phase 3, single-arm...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
- Drugs Jan 31, 2026
PCSK9 and ANGPTL3 Inhibitors in Homozygous Familial Hypercholesterolemia: A Meta-analysis of Randomized Clinical Trials.
The aim of this meta-analysis was to compare the efficacy of PCSK9 and ANGPTL3 inhibitors in patients with homozygous familial hypercholesterolemia (HoFH). We systematically searched selected electronic databases until 30 November 2024. Main end point was the effect of lipid lowering therapy on lipi...
Why it matters: Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
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Articles aggregated from peer-reviewed journals (PubMed), sponsor press releases, SEC 8-K filings, and FDA announcements. Original-source links are preserved on each article page. Editorial tags (Breaking / Notable / Update) reflect UniteRare's curation-time priority assessment.