1,246
Views
49
CrossRef citations to date
0
Altmetric
Review Article

Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution

, , &
Pages 1-18 | Received 17 Dec 2010, Accepted 11 Feb 2011, Published online: 10 Jun 2011

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (3)

Fathimath Faiz, Miao Hu, Amanda J Hooper, Brian Tomlinson & Frank M van Bockxmeer. (2014) Molecular characterization of a Chinese woman homozygous for the familial hypercholesterolemia LDLR c.1474G>A (p.Asp492Asn) mutation. Clinical Lipidology 9:2, pages 163-170.
Read now
Damon A Bell, Amanda J Hooper, Gerald F Watts & John R Burnett. (2012) Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia. Vascular Health and Risk Management 8, pages 651-659.
Read now
Fathimath Faiz, Amanda J. Hooper & Frank M. van Bockxmeer. (2012) Molecular pathology of familial hypercholesterolemia, related dyslipidemias and therapies beyond the statins. Critical Reviews in Clinical Laboratory Sciences 49:1, pages 1-17.
Read now

Articles from other publishers (46)

Ursa Sustar, Olga Kordonouri, Matej Mlinaric, Jernej Kovac, Stefan Arens, Katarina Sedej, Barbara Jenko Bizjan, Katarina Trebusak Podkrajsek, Thomas Danne, Tadej Battelino & Urh Groselj. (2022) Universal screening for familial hypercholesterolemia in 2 populations. Genetics in Medicine 24:10, pages 2103-2111.
Crossref
Oscar Francisco Chacón-Camacho, Glustein Pozo-Molina, Claudia Fabiola Méndez-Catalá, Julia Reyes-Reali, René Méndez-Cruz & Juan Carlos Zenteno. (2022) Familial Hypercholesterolemia: Update and Review. Endocrine, Metabolic & Immune Disorders - Drug Targets 22:2, pages 198-211.
Crossref
Stephen R. Daniels & Sarah C. Couch. 2021. Sperling Pediatric Endocrinology. Sperling Pediatric Endocrinology 1004 1021 .
Oliver Helk & Kurt Widhalm. (2020) Effects of a low-fat dietary regimen enriched with soy in children affected with heterozygous familial hypercholesterolemia. Clinical Nutrition ESPEN 36, pages 150-156.
Crossref
Golnaz Vaseghi, Marjan Jamalin, Sina Arabi, Soleiman Kheiri, Shabnam Hajian & Nizal Sarrafzadegan. (2020) Factors Associated With Low-Density Lipoprotein Cholesterol Reduction in Patients With Familial Hypercholesterolemia: Results From Isfahan Familial Hypercholesterolemia Registry. American Journal of Therapeutics 27:2, pages e227-e228.
Crossref
Martin Kircher, Chenling Xiong, Beth Martin, Max Schubach, Fumitaka Inoue, Robert J. A. Bell, Joseph F. Costello, Jay Shendure & Nadav Ahituv. (2019) Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nature Communications 10:1.
Crossref
Christian G. Aragonez, Vincent J. Beer, Darla L. Tharp, Douglas K. Bowles, M. Harold Laughlin, Daphne Merkus, Dirk J. Duncker & Shawn B. Bender. (2019) Differential impact of severe familial hypercholesterolemia on regional skeletal muscle and organ blood flows during exercise: Effects of PDE 5 inhibition . Microcirculation 26:6.
Crossref
Laney K. JonesAlanna Kulchak RahmKandamurugu ManickamLoren ButryAmanda LazzeriTimothy CorcoranDaniel KomarNavya S. JosyulaSarah A. PendergrassAmy C. SturmMichael F. Murray. (2018) Healthcare Utilization and Patients’ Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia. Circulation: Genomic and Precision Medicine 11:8.
Crossref
Maria Luisa Matey-Hernandez, Frances M. K. Williams, Tilly Potter, Ana M. Valdes, Tim D. Spector & Cristina Menni. (2018) Genetic and microbiome influence on lipid metabolism and dyslipidemia. Physiological Genomics 50:2, pages 117-126.
Crossref
R. Scicali, A. Di Pino, R. Platania, G. Purrazzo, V. Ferrara, A. Giannone, F. Urbano, A. Filippello, V. Rapisarda, E. Farruggia, S. Piro, A.M. Rabuazzo & F. Purrello. (2018) Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile. Nutrition, Metabolism and Cardiovascular Diseases 28:1, pages 35-43.
Crossref
Joep C. Defesche, Samuel S. Gidding, Mariko Harada-Shiba, Robert A. Hegele, Raul D. Santos & Anthony S. Wierzbicki. (2017) Familial hypercholesterolaemia. Nature Reviews Disease Primers 3:1.
Crossref
R. H. Fairoozy, M. Futema, R. Vakili, M. R. Abbaszadegan, S. Hosseini, M. Aminzadeh, H. Zaeri, M. Mobini, S. E. Humphries & A. Sahebkar. (2017) The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. Scientific Reports 7:1.
Crossref
Lars Andersen, Tina Davis, Heidi Testa & Rolf L. Andersen. (2017) PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report. Journal of Clinical Lipidology 11:6, pages 1471-1474.
Crossref
Yi Song, Rui-Fang Zhang & Yu Liu. (2017) 2D-STI combined with gated 99Tcm-MIBI MPI for the diagnosis of myocardial ischemia in hypercholesterolemia patients. Experimental and Therapeutic Medicine 14:2, pages 981-994.
Crossref
Darío Echeverri, Jaime R. Cabrales, Juan Hernando del Portillo & Dairo Rey. (2017) Stent liberadores de medicamento en enfermedad coronaria prematura en jóvenes con hipercolesterolemia familiar homocigota y trasplante hepático previo. Revista Colombiana de Cardiología 24:4, pages 351-360.
Crossref
Ling Zhang & Xiaoxu Chen. (2017) Investigation of the predictive value of speckle tracking imaging for the assessment of cardiac function and clinical prognosis in patients with hypercholesterolemia. Experimental and Therapeutic Medicine.
Crossref
Justin Parizo, Ashish Sarraju & Joshua W. Knowles. (2016) Novel Therapies for Familial Hypercholesterolemia. Current Treatment Options in Cardiovascular Medicine 18:11.
Crossref
Shawn B. Bender, Vincent J. de Beer, Darla L. Tharp, Douglas K. Bowles, M. Harold Laughlin, Daphne Merkus & Dirk J. Duncker. (2016) Severe familial hypercholesterolemia impairs the regulation of coronary blood flow and oxygen supply during exercise. Basic Research in Cardiology 111:6.
Crossref
Sarojini Pandey, Michaela Leider, Mike Khan & Dimitris K Grammatopoulos. (2016) Cascade Screening for Familial Hypercholesterolemia: PCR Methods with Melting-Curve Genotyping for the Targeted Molecular Detection of Apolipoprotein B and LDL Receptor Gene Mutations to Identify Affected Relatives. The Journal of Applied Laboratory Medicine 1:2, pages 109-118.
Crossref
Thomas Knickelbine, Matthew Lui, Ross Garberich, Michael D. Miedema, Craig Strauss & Jeffrey J. VanWormer. (2016) Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies. Journal of Clinical Lipidology 10:5, pages 1182-1187.
Crossref
Gretchen Benson, Dawn R. Witt, Jeffrey J. VanWormer, Susan M. Campbell, Arthur Sillah, Sharonne N. Hayes, Matt Lui & Martha Gulati. (2016) Medication adherence, cascade screening, and lifestyle patterns among women with hypercholesterolemia: Results from the WomenHeart survey. Journal of Clinical Lipidology 10:4, pages 937-943.
Crossref
Mahtab Sharifi, Małgorzata Walus-Miarka, Barbara Idzior-Waluś, Maciej T. Malecki, Marek Sanak, Ros Whittall, Ka Wah Li, Marta Futema & Steve E. Humphries. (2016) The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Metabolism 65:3, pages 48-53.
Crossref
I. Ramasamy. (2016) Update on the molecular biology of dyslipidemias. Clinica Chimica Acta 454, pages 143-185.
Crossref
Mengge Zhou & Dong Zhao. (2016) Familial Hypercholesterolemia in Asian Populations. Journal of Atherosclerosis and Thrombosis 23:5, pages 539-549.
Crossref
Paulo Caleb Junior Lima Santos & Alexandre Costa Pereira. (2015) Type of LDLR mutation and the pharmacogenetics of familial hypercholesterolemia treatment . Pharmacogenomics 16:15, pages 1743-1750.
Crossref
Gašper Klančar, Urh Grošelj, Jernej Kovač, Nevenka Bratanič, Nataša Bratina, Katarina Trebušak Podkrajšek & Tadej Battelino. (2015) Universal Screening for Familial Hypercholesterolemia in Children. Journal of the American College of Cardiology 66:11, pages 1250-1257.
Crossref
Na-Qiong Wu, Sha Li & Jian-Jun Li. (2015) Update of Clinical Trials of Anti-PCSK9 Antibodies. Cardiovascular Drugs and Therapy 29:2, pages 159-169.
Crossref
Long Jiang, Feng Gao, Li-Bin Hu, Li-Yuan Sun, Xiao-Dong Pan, Jie Lin, Hai-Bo Zhang, Qiang Yong, Qian Wang, Ya Yang, Chun-Mei Wang, Shi-Wei Yang, Feng Zhang & Lu-Ya Wang. (2014) Seven-year clinical follow-up of a Chinese homozygous familial hypercholesterolemia child with premature xanthomas and coronary artery disease—A need for early diagnosis and aggressive treatment. International Journal of Cardiology 177:1, pages 188-191.
Crossref
Ursula Kassner, Marion Wühle-Demuth, Isabelle Missala, Steve E Humphries, Elisabeth Steinhagen-Thiessen & Ilja Demuth. (2013) Clinical utility gene card for: Hyperlipoproteinemia, TYPE II. European Journal of Human Genetics 22:7, pages 953-953.
Crossref
Marc Tremblay, Tarek Bouhali, Daniel Gaudet & Diane Brisson. (2013) Genealogical analysis as a new approach for the investigation of drug intolerance heritability. European Journal of Human Genetics 22:7, pages 916-922.
Crossref
Shawn B. Bender, Vincent J. de Beer, Darla L. Tharp, Elza D. van Deel, Douglas K. Bowles, Dirk J. Duncker, M. Harold Laughlin & Daphne Merkus. (2014) Reduced contribution of endothelin to the regulation of systemic and pulmonary vascular tone in severe familial hypercholesterolaemia. The Journal of Physiology 592:8, pages 1757-1769.
Crossref
Marjet J. A. M. Braamskamp, Barbara A. Hutten, Albert Wiegman & John J. P. Kastelein. (2014) Management of Hypercholesterolemia in Children. Pediatric Drugs 16:2, pages 105-114.
Crossref
JoAnne M. Foody. (2014) Familial Hypercholesterolemia: An Under-recognized but Significant Concern in Cardiology Practice. Clinical Cardiology 37:2, pages 119-125.
Crossref
Raghu Vishwanath & Linda C. Hemphill. (2014) Familial hypercholesterolemia and estimation of US patients eligible for low-density lipoprotein apheresis after maximally tolerated lipid-lowering therapy. Journal of Clinical Lipidology 8:1, pages 18-28.
Crossref
Stephen R. Daniels & Sarah C. Couch. 2014. Pediatric Endocrinology. Pediatric Endocrinology 1015 1034.e1 .
Hagai TavoriIlaria GiunzioniMacRae F. LintonSergio Fazio. (2013) Loss of Plasma Proprotein Convertase Subtilisin/Kexin 9 (PCSK9) After Lipoprotein Apheresis. Circulation Research 113:12, pages 1290-1295.
Crossref
Jennifer Fu, Samantha Kwok, Leah Sinai, Omar Abdel-Razek, Janet Babula, Dennis Chen, Emma Farago, Nigel Fernandopulle, Sean Leith, Melissa Loyzer, Catherine Lu, Niyati Malkani, Nicole Morris, Mandi Schmidt, Randa Stringer, Heather Whitehead, Matthew R. Ban, Joseph B. Dubé, Adam McIntyre, Christopher T. Johansen, Henian Cao, Jian Wang & Robert A. Hegele. (2013) Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias. Canadian Journal of Cardiology 29:8, pages 934-939.
Crossref
Waqas Ahmed, Ros Whittall, Moeen Riaz, Muhammad Ajmal, Ahmed Sadeque, Humaira Ayub, Raheel Qamar & Steve E. Humphries. (2013) The genetic spectrum of familial hypercholesterolemia in Pakistan. Clinica Chimica Acta 421, pages 219-225.
Crossref
Glen D. Lawrence. (2013) Dietary Fats and Health: Dietary Recommendations in the Context of Scientific Evidence. Advances in Nutrition 4:3, pages 294-302.
Crossref
G. Kees Hovingh, Michael H. Davidson, John J.P. Kastelein & Anne M. O'Connor. (2013) Diagnosis and treatment of familial hypercholesterolaemia. European Heart Journal 34:13, pages 962-971.
Crossref
Eduardo Luiz Gasnhar Moreira, Aderbal S. AguiarJr.Jr., Cristiane Ribeiro de Carvalho, Danúbia Bonfanti Santos, Jade de Oliveira, Andreza Fabro de Bem, João Carlos Xikota, Roger Walz, Marcelo Farina & Rui Daniel Prediger. (2013) Effects of lifestyle modifications on cognitive impairments in a mouse model of hypercholesterolemia. Neuroscience Letters 541, pages 193-198.
Crossref
Stefano Bertolini, Livia Pisciotta, Claudio Rabacchi, Angelo B. Cefalù, Davide Noto, Tommaso Fasano, Alessio Signori, Raffaele Fresa, Maurizio Averna & Sebastiano Calandra. (2013) Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis 227:2, pages 342-348.
Crossref
Marjet J. A. M. Braamskamp & Albert Wiegman. (2012) Familial Hypercholesterolemia: Advances in Understanding the Early Natural History. Current Cardiovascular Risk Reports 6:6, pages 562-566.
Crossref
Amanda J. Hooper, Lan T. Nguyen, John R. Burnett, Timothy R. Bates, Damon A. Bell, Trevor G. Redgrave, Gerald F. Watts & Frank M. van Bockxmeer. (2012) Genetic analysis of familial hypercholesterolaemia in Western Australia. Atherosclerosis 224:2, pages 430-434.
Crossref
Robert Bender, Damon A. Bell, Amanda J. Hooper, Glenn Edwards, Frank M. van Bockxmeer, Gerald F. Watts & John R. Burnett. (2012) Screening for familial hypercholesterolaemia. Pathology 44:2, pages 122-128.
Crossref
Gérard Chalès, Guillaume Coiffier & Pascal Guggenbuhl. (2011) Rare thesaurismosis and xanthomatosis. Best Practice & Research Clinical Rheumatology 25:5, pages 683-701.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.