ArticleCase reports in transplantation2011
Homozygous familial hypercholesterolemia: case series and review of the literature.
Article in Case reports in transplantation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 38 citations in OpenAlex.
- Toward an Integrated Therapeutic Approach for Familial Hypercholesterolemia.Current medical science · 2026Review
- Liver Transplantation in a Child With Homozygous Familial Hypercholesterolemia: A Case Report and Literature Review.Reviews in cardiovascular medicine · 2025Review
- Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report.Journal of medical case reports · 2025Article
- Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience.Orphanet journal of rare diseases · 2025Article
- Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia.Case reports in medicine · 2025Article
- Multi-modal transcriptomics: integrating machine learning and convolutional neural networks to identify immune biomarkers in atherosclerosis.Frontiers in cardiovascular medicine · 2024Article
- Soluble PCSK9 Inhibition: Indications, Clinical Impact, New Molecular Insights and Practical Approach-Where Do We Stand?Journal of clinical medicine · 2023Review
- Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy.BMJ case reports · 2022Article
- Extensive papulonodular xanthoma: a diagnostic clue to homozygous familial hyperlipidaemia.BMJ case reports · 2022Article
- Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)-Long-Term Follow-Up of a Patient and Literature Review.Frontiers in pediatrics · 2020Article
- Liver Transplantation for Homozygous Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2019Review
- Hypercholesterolaemia - practical information for non-specialists.Archives of medical science : AMS · 2018Article
- Familial hypercholesterolemia.Cardiology clinics · 2015Review
- The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis.The Journal of biological chemistry · 2014Article
- A Case of Severe Carotid Stenosis in a Patient with Familial Hypercholesterolemia without Significant Coronary Artery Disease.Case reports in cardiology · 2014Article
- Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre.Indian journal of endocrinology and metabolismArticle
- Familial Hypercholesterolemia: Advances in Recognition and Therapy.Progress in cardiovascular diseasesReview
- An Unusual Case of Multiple Tendinous Xanthomas Involving the Extremities and the Ears.Case reports in dermatologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction. Familial hypercholesterolemia (FH) is caused by nonfunctioning low-density lipoprotein (LDL) receptors, resulting in high serum cholesterol. Two types of FH are described: the heterozygous form is diagnosed in adults and responds well to medical therapy; the homozygous form is rare, diagnosed in children, and often requires multiple treatments to prevent complications. Cholesterol accumulation in tissues produces common clinical manifestations including cutaneous xanthomas, coronary artery disease, and aortic stenosis. Treatment options consist of lifestyle modifications, lipid-lowering medications, LDL aphaeresis, and orthotopic liver transplantation (OLT). Case Presentation. Two patients with FH presented at young ages due to characteristic cutaneous xanthomas. The patients underwent cardiac testing that revealed atherosclerotic changes. The patients received maximal medical therapy, but only experienced a small decrease in serum cholesterol and LDL levels. After several years of medical treatment without improvement of symptoms, the patients were listed for OLT. The transplantations were successful, and only one patient had a postoperative complication of acute rejection, treated successfully. Currently, both patients are doing well with regression of the cutaneous xanthomas and atherosclerotic changes. Conclusion. OLT is a safe and effective option for patients with homozygous FH refractory to maximal medical therapy and may represent the optimal treatment for these patients.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.