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Genomics|Features|Familial Hypercholesterolemia

Familial Hypercholesterolemia

Familial Hypercholesterolemia: New Therapeutic Insights - June 22, 2015

CDC and related Info

• Podcast:Cascade screening for Familial Hypercholesterolemia
• Blog Post:Public Health Genomics in Action: Reducing Morbidity and Mortality from Familial Hypercholesterolemia
• Toolkit Information on Familial Hypercholesterolemia
• Genomics and Heart Disease
• Reducing the burden of disease and death from familial hypercholesterolemia: A call to action.Knowles JW, et al.  Am Heart J. 2014 Dec;168(6):807-11

News of the week for many, news of a lifetime for those with FH: FDA PCSK9 hearing, the FH Foundation, June 19, 2015

Video: PCSK9 inhibitors generate excitement in field of lipidology

PCSK9 inhibition: discovery, current evidence, and potential effects on LDL-C and Lp(a).
Ferdinand KC et al. Cardiovasc Drugs Ther 2015 Jun 12.

PCSK9 inhibitors in the cardiovascular field | ten points to remember, by M Rubenfire, American College of Cardiology, June 15

A new way to treat high cholesterol? By Matt Sloane, Web MD, June 10

Panel tells F.D.A. to back second drug to help heart, by Gina Kolata, New York Times, June 10

New, potent cholesterol-lowering drug gets FDA advisory approval, by C Storrs, CNN Health, June 9

FDA EMDAC meeting - the patient voice, The FH Foundation, June 9

FDA panel backs Sanofi/Regeneron cholesterol drug, Reuters, June 9

Monoclonal antibodies are shown to be safe and effective in patients with dyslipidaemia
Wise J, BMJ, April 28, 2015

PCSK9 inhibitors: A new era in lipid-lowering treatment?
Cainzos-Achirica M et al. Ann. Intern. Med. 2015 Apr 28.

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M et al. Nat. Genet. 2003 Jun (2) 154-6

Emerging PCSK9 inhibitors for treating dyslipidaemia: buttressing the gaps in coronary prevention.
Page MM et al. Expert Opin Emerg Drugs 2015 Apr 10. 1-14

PCSK9 inhibitors.
Gencer B et al. Swiss Med Wkly 2015 w14094

Efficacy and safety of ezetimibe monotherapy in children with heterozygous familial or nonfamilial hypercholesterolemia.
Kusters DM et al. J. Pediatr. 2015 Apr 1.

Evolocumab (AMG 145) for primary hypercholesterolemia.
Langslet G et al. Expert Rev Cardiovasc Ther 2015 May (5) 477-88

Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K et al. Atherosclerosis 2015 May (1) 190-6

The promise of proprotein convertase subtilisin/kexin 9 inhibitors for the treatment of familial hypercholesterolemia.
Pokharel Y et al. Curr Atheroscler Rep 2015 May (5) 508

PCSK9 inhibition in patients with hypercholesterolemia.
Desai NR et al. Trends Cardiovasc. Med. 2015 Feb 11.

Familial Hypercholesterolemia: Recent Insights - June 10, 2015

Familial hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association guidelines: Myths, oversimplification, and misinterpretation versus facts.
Knowles JW et al. Am. J. Cardiol. 2015 May 9.

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros AM et al. Genet. Med. 2015 May 28.

[Familial hypercholesterolemia: why screening, counselling and treatment should be integrated].
Roeters van Lennep JE et al. Ned Tijdschr Geneeskd 2015 159(0) A8875

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
Wegman A et al. Eur Heart, May 25, 2015

Familial hypercholesterolemia: putting the patient first, Your Tube Video Featuring Katherine Wilemon from the FH Foundation

Effects of proprotein convertase subtilisin/kexin type 9 antibodies in adults with hypercholesterolemia: A systematic review and meta-analysis.
Navarese EP et al. Ann. Intern. Med. 2015 Apr 28.

Deciphering unexplained familial dyslipidemias: do we have the tools?
Schunkert H et al. Circ Cardiovasc Genet 2015 Apr (2) 250-2

The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia - A post-hoc analysis of a Phase 3, single-arm, open-label trial.
Stefanutti C et al. Atherosclerosis 2015 Mar 14. (2) 408-414

Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.
Pears R et al. Curr. Opin. Lipidol. 2015 Apr 16.

Novel genes in LDL metabolism - a comprehensive overview.
Christoffersen M et al. Curr. Opin. Lipidol. 2015 Apr 16.

Recent advances in the understanding and care of familial hypercholesterolaemia: significance of the biology and therapeutic regulation of proprotein convertase subtilisin/kexin type 9.
Page MM et al. Clin. Sci. 2015 Jul 1. (1) 63-79

Elevated atherosclerosis-related gene expression, monocyte activation and microparticle-release are related to increased lipoprotein-associated oxidative stress in familial hypercholesterolemia.
Hjuler NM et al. PLoS ONE 2015 (4) e0121516

Efficacy and safety of ezetimibe monotherapy in children with heterozygous familial or nonfamilial hypercholesterolemia.
Kusters DM et al. J. Pediatr. 2015 Apr 1.

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
Al-Allaf FA et al. Gene 2015 Apr 1.

Homozygous Familial Hypercholesterolemia - June 4, 2015

Daily life, experience and needs of persons suffering from homozygous familial hypercholesterolaemia: insights from a patient survey.
Bruckert E et al. Atheroscler Suppl 2014 Sep 15(2) 46-51

What is homozygous familial hypercholesterolemia?  Information from the FH Foundation

Long-term clinical results of microsomal triglyceride transfer protein inhibitor use in a patient with homozygous familial hypercholesterolemia.
Raper Anna et al. J Clin Lipidol 2015 Jan-Feb;9(1):107-12.

Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).
Muntoni Sandro et al. J Clin Lipidol 2015 Jan-Feb;9(1):103-6.

Impact of LDL apheresis on aortic root atheroma in children with homozygous familial hypercholesterolemia.
Lefort Bruno et al. Atherosclerosis 2015 Mar (1) 158-62

The doctor's dilemma: challenges in the diagnosis and care of homozygous familial hypercholesterolemia.
Baum Seth J et al. J Clin Lipidol 2014 Nov-Dec;8(6):542-9.

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.
Jiang Long et al. Int. J. Cardiol. 2014 Nov 15. (1) 188-91

Normalization of low-density lipoprotein receptor expression in receptor defective homozygous familial hypercholesterolemia by inhibition of PCSK9 with alirocumab.
Lambert Gilles et al. J. Am. Coll. Cardiol. 2014 Dec 2. (21) 2299-300

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.
Raal Frederick J et al. Lancet 2015 Jan 24. (9965) 341-50

Management of homozygous familial hypercholesterolaemia--unmet needs, updated recommendations, and clinical experience with the MTP inhibitor, lomitapide. Concluding comments.
Catapano Alberico L et al. Atheroscler Suppl 2014 Sep (2) 52

Daily life, experience and needs of persons suffering from homozygous familial hypercholesterolaemia: insights from a patient survey.
Bruckert Eric et al. Atheroscler Suppl 2014 Sep (2) 46-51

What are we able to achieve today for our patients with homozygous familial hypercholesterolaemia, and what are the unmet needs?
Santos Raul D et al. Atheroscler Suppl 2014 Sep (2) 19-25

New strategies for the management of patients with homozygous familial hypercholesterolaemia.
Catapano Alberico L et al. Atheroscler Suppl 2014 Sep (2) 17-8

Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.
Magaña Torres María Teresa et al. J Clin Lipidol 2014 Sep-Oct;8(5):525-7.

Homozygous familial hypercholesterolemia.
Alicezah M K et al. Malays J Pathol 2014 Aug (2) 131-7

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Cuchel Marina et al. Eur. Heart J. 2014 Aug 21. (32) 2146-57

Lomitapide for the management of homozygous familial hypercholesterolemia.
deGoma Emil M et al. Rev Cardiovasc Med 2014 (2) 109-18

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
Mabuchi Hiroshi et al. Atherosclerosis 2014 Sep (1) 54-61

Xanthoma tuberosum in homozygous familial hypercholesterolemia.
Moorthy Nagaraja et al. Ann Pediatr Cardiol 2014 May (2) 118-9

Lomitapide: A novel agent for the treatment of homozygous familial hypercholesterolemia.
Davis Kyle A et al. Am J Health Syst Pharm 2014 Jun 15. (12) 1001-8

Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemia.
Vuorio Alpo et al. Vasc Health Risk Manag 2014 263-70

Familial Hypercholesterolemia: Call to Action and Recent Insights - March 25, 2015

New CDC feature: Genomics and Heart Disease

Familial hypercholesterolemia: Underdiagnosed, risks underappreciated; new treatments on horizon,
Cardiology Today, February 2015

Long-term statin treatment in children with familial hypercholesterolemia: More insight into tolerability and adherence
Braamskamp M, et al. Pediatric Drugs, Feb 2015

Big data used to help identify patients at risk of deadly high-cholesterol disorder,
by Tracie White, Scope, Jan 29

Find FH: The FH Foundation, AMGEN and Stanford University launch the Find FH initiative (Flag, Identify, Network, Deliver), Jan 29

Cascade screening for familial hypercholesterolemia, by Mary Louise Brumit, FH Foundation (2014)

CDC paper: Reducing the burden of disease and death from familial hypercholesterolemia: A call to action.
Knowles JW, et al.  Am Heart J. 2014 Dec;168(6):807-11

Proceedings of the FH Foundation's inaugural Familial Hypercholesterolemia Summit: Awareness to Action, the FH Foundation (2014)

Familial hypercholesterolemia-epidemiology, diagnosis, and screening. 
Singh S, Bittner V. Curr Atheroscler Rep. 2015 Feb;17(2):482

A framework for bridging the gap in the care of familial hypercholesterolaemia in the community: pragmatic and economic perspectives.
Purchase S, et al Int J Evid Based Healthc. 2014 Dec

Mortality among patients with familial hypercholesterolemia: a registry-based study in norway, 1992-2010. 
Mundal L, et al J Am Heart Assoc. 2014 Dec 2;3(6).

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects.
Jannes CE, et al. Atherosclerosis. 2014 Nov 14;238(1):101-107

Canadian Cardiovascular Society position statement on familial hypercholesterolemia.
Genest J, et al.  Can J Cardiol. 2014 Dec;30(12):1471-81

Recommendations for the management of patients with familial hypercholesterolemia.
Feldman DI, et al. Curr Atheroscler Rep. 2015 Jan;17(1):473

Systematic detection of familial hypercholesterolaemia in primary health care: A community based prospective study of three methods.
Kirke AB, et al. Heart Lung Circ. 2014 Sep 30

Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.
Lahtinen AM, et al. Atherosclerosis. 2014 Nov 18;238(1):64-69

Therapy: PCSK9 inhibitors for treating familial hypercholesterolaemia.
Mabuchi H, Nohara A. Nat Rev Endocrinol. 2014 Nov 18

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature. 2014 Dec 10 

Molecular basis for familial hypercholesterolemia, Brown and Goldstein Video (Sept 2014) 

Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K et al. Atherosclerosis 2015 Mar 6. 240(1) 190-196

Homozygous Familial Hypercholesterolemia - March 2, 2015

What is homozygous familial hypercholesterolemia?  Information from the FH Foundation

Long-term clinical results of microsomal triglyceride transfer protein inhibitor use in a patient with homozygous familial hypercholesterolemia.
Raper Anna et al. J Clin Lipidol 2015 Jan-Feb;9(1):107-12.

Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).
Muntoni Sandro et al. J Clin Lipidol 2015 Jan-Feb;9(1):103-6.

Impact of LDL apheresis on aortic root atheroma in children with homozygous familial hypercholesterolemia.
Lefort Bruno et al. Atherosclerosis 2015 Mar (1) 158-62

The doctor's dilemma: challenges in the diagnosis and care of homozygous familial hypercholesterolemia.
Baum Seth J et al. J Clin Lipidol 2014 Nov-Dec;8(6):542-9.

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.
Jiang Long et al. Int. J. Cardiol. 2014 Nov 15. (1) 188-91

Normalization of low-density lipoprotein receptor expression in receptor defective homozygous familial hypercholesterolemia by inhibition of PCSK9 with alirocumab.
Lambert Gilles et al. J. Am. Coll. Cardiol. 2014 Dec 2. (21) 2299-300

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.
Raal Frederick J et al. Lancet 2015 Jan 24. (9965) 341-50

Management of homozygous familial hypercholesterolaemia--unmet needs, updated recommendations, and clinical experience with the MTP inhibitor, lomitapide. Concluding comments.
Catapano Alberico L et al. Atheroscler Suppl 2014 Sep (2) 52

Daily life, experience and needs of persons suffering from homozygous familial hypercholesterolaemia: insights from a patient survey.
Bruckert Eric et al. Atheroscler Suppl 2014 Sep (2) 46-51

What are we able to achieve today for our patients with homozygous familial hypercholesterolaemia, and what are the unmet needs?
Santos Raul D et al. Atheroscler Suppl 2014 Sep (2) 19-25

New strategies for the management of patients with homozygous familial hypercholesterolaemia.
Catapano Alberico L et al. Atheroscler Suppl 2014 Sep (2) 17-8

Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.
Magaña Torres María Teresa et al. J Clin Lipidol 2014 Sep-Oct;8(5):525-7.

Homozygous familial hypercholesterolemia.
Alicezah M K et al. Malays J Pathol 2014 Aug (2) 131-7

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Cuchel Marina et al. Eur. Heart J. 2014 Aug 21. (32) 2146-57

Lomitapide for the management of homozygous familial hypercholesterolemia.
deGoma Emil M et al. Rev Cardiovasc Med 2014 (2) 109-18

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
Mabuchi Hiroshi et al. Atherosclerosis 2014 Sep (1) 54-61

Xanthoma tuberosum in homozygous familial hypercholesterolemia.
Moorthy Nagaraja et al. Ann Pediatr Cardiol 2014 May (2) 118-9

Lomitapide: A novel agent for the treatment of homozygous familial hypercholesterolemia.
Davis Kyle A et al. Am J Health Syst Pharm 2014 Jun 15. (12) 1001-8

Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemia.
Vuorio Alpo et al. Vasc Health Risk Manag 2014 263-70

Familial Hypercholesterolemia: Saving Lives Through Early Detection - September 25, 2014

September 24 was Familial Hypercholesterolemia Awareness Day

New CDC paper:  Reducing the burden of disease and death from familial hypercholesterolemia: A call to action
Joshua W. Knowles, Emily C. O'Brien, Karen Greendale, Katherine Wilemon, Jacques Genest, Laurence S. Sperling, William A. Neal, Daniel J. Rader, Muin J. Khoury.  American Heart Journal 2014 Sept 16

What is familial hypercholesterolemia? Information from the CDC Public Health Genomics toolkit.

History of discovery- The LDL receptor
Joseph L. Goldstein and Michael S. Brown Arteriosclerosis, Thrombosis, and Vascular Biology. 2009; 29: 431-438

Understanding familial hypercholesterolemia, Preventive Cardiology, July 2014

What are state public health programs doing about reducing burden of familial hypercholesterolemia? Information from CDC clickable state map

Helping patients with familial hypercholesterolemia find healthcare providers, information from the FH Foundation