HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)

Subscribe to New Research on Hyperlipoproteinemia Type II

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).

Also Known As:

Familial Hypercholesterolemia; Hypercholesterolemia, Familial; Apolipoprotein B-100, Familial Ligand-Defective; Familial Combined Hyperlipoproteinemia; Hyper-Low Density Lipoproteinemia; Hyper-beta-Lipoproteinemia; Hypercholesterolemia, Autosomal Dominant; Hypercholesterolemia, Autosomal Dominant, Type B; Hyperlipoproteinemia Type 2; Hyperlipoproteinemia Type IIa; Hyperlipoproteinemia Type IIb; LDL Receptor Disorder; 2, Hyperlipoproteinemia Type; 2s, Hyperlipoproteinemia Type; Apolipoprotein B 100, Familial Ligand Defective; Autosomal Dominant Hypercholesterolemia; Autosomal Dominant Hypercholesterolemias; Combined Hyperlipoproteinemia, Familial; Combined Hyperlipoproteinemias, Familial; Density Lipoproteinemia, Hyper-Low; Density Lipoproteinemias, Hyper-Low; Disorder, LDL Receptor; Disorders, LDL Receptor; Dominant Hypercholesterolemia, Autosomal; Dominant Hypercholesterolemias, Autosomal; Essential Hypercholesterolemia; Essential Hypercholesterolemias; Familial Combined Hyperlipoproteinemias; Familial Hypercholesterolemias; Hyper Low Density Lipoproteinemia; Hyper beta Lipoproteinemia; Hyper-Low Density Lipoproteinemias; Hyper-beta-Lipoproteinemias; Hyperbetalipoproteinemias; Hypercholesterolemias, Autosomal Dominant; Hypercholesterolemias, Essential; Hypercholesterolemias, Familial; Hyperlipoproteinemia Type 2s; Hyperlipoproteinemia Type IIas; Hyperlipoproteinemia Type IIbs; Hyperlipoproteinemia Type IIs; Hyperlipoproteinemia, Familial Combined; Hyperlipoproteinemias, Familial Combined; LDL Receptor Disorders; Lipoproteinemia, Hyper-Low Density; Lipoproteinemias, Hyper-Low Density; Receptor Disorder, LDL; Receptor Disorders, LDL; Type 2, Hyperlipoproteinemia; Type 2s, Hyperlipoproteinemia; Hyperbetalipoproteinemia; Hypercholesterolemia, Essential

Networked: 2611 relevant articles (105 outcomes, 277 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Atherosclerosis
2.	Hypercholesterolemia
3.	Coronary Disease (Coronary Heart Disease)
4.	Cardiovascular Diseases (Cardiovascular Disease)
5.	Dyslipidemias (Dyslipidemia)

Experts

1.	Kastelein, John J P: 78 articles (11/2015 - 07/2002)
2.	Defesche, Joep C: 27 articles (03/2015 - 12/2002)
3.	Hutten, Barbara A: 25 articles (09/2015 - 07/2002)
4.	Ose, Leiv: 24 articles (11/2015 - 07/2002)
5.	Wiegman, Albert: 22 articles (11/2015 - 03/2003)
6.	Sijbrands, Eric J G: 21 articles (09/2015 - 12/2002)
7.	Civeira, Fernando: 20 articles (03/2015 - 11/2002)
8.	Stein, Evan A: 19 articles (11/2015 - 12/2002)
9.	Rader, Daniel J: 19 articles (11/2015 - 09/2002)
10.	Alonso, Rodrigo: 19 articles (07/2015 - 11/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperlipoproteinemia Type II:

1.	CholesterolIBA 01/01/1998 - "This method also helped us to diagnose familial hypercholesterolemia, or to exclude from carrier status, 11 children with borderline high cholesterol levels." 09/01/2015 - "Early identification and treatment of individuals with elevated levels of atherogenic cholesterol have been shown to be effective and safe in reducing morbidity and mortality, especially in familial hypercholesterolemia. " 08/29/2014 - "Amino acid substitutions in the human LDLR confer partial resistance to PCSK9 and IDOL regulatory pathways with improved reduction in cholesterol levels and improve on a potential gene therapeutic approach to treat homozygous familial hypercholesterolemia subjects." 08/01/1986 - "Safety and efficacy of long-term diet and diet plus bile acid-binding resin cholesterol-lowering therapy in 73 children heterozygous for familial hypercholesterolemia." 01/01/1979 - "These composite data indicated that the definable metabolic defects of these two sisters with homozygous familial hypercholesterolemia were the sluggish clearance of cholesterol from the body coupled with low total body synthesis of cholesterol."
2.	LDL CholesterolIBA 02/01/1977 - "Dietary therapy in the 2- to 7-year-old children heterozygous for familial hypercholesterolemia provided mean overall reduction of total and Ldl cholesterol levels between 6% and 15%, and appeared to be the most effective when instituted in children at ages 1 or 2." 05/01/2014 - "Improvement in LDL-cholesterol levels of patients with familial hypercholesterolemia: can we do better? " 01/01/2013 - "Mean platelet volume could be one of the markers of therapeutic efficacy in patients with familial hypercholesterolemia treated by extracorporeal LDL-cholesterol elimination that is simple and inexpensive." 11/01/2004 - "Statins are not only effective in reducing low-density lipoprotein cholesterol levels in children with familial hypercholesterolemia but also improve endothelial function and reduce the progressive thickening of the intima media complex of the carotid arteries. " 12/01/2012 - "The aim of this study was to report the efficacy of low-density lipoprotein cholesterol (LDL-C) apheresisusing a cascade filtration system in pediatric patients with homozygous familial hypercholesterolemia (FH), and toclarify the associated adverse effects and difficulties. "
3.	Lipoproteins (Lipoprotein)IBA 04/01/1990 - "Thus, we have identified a primate model for human familial hypercholesterolemia which will be useful for studying the relationship between the LDLR and lipoprotein metabolism and for assessing the efficacy of diets and drugs in the treatment of human familial hypercholesterolemia." 06/01/2005 - "Recent structural and functional studies of the receptor, combined with the plethora of prior knowledge about normal receptor function and the effects of disease-associated mutations that cause familial hypercholesterolemia, reveal a detailed molecular model for how the acidic environment of the endosome triggers the release of bound lipoprotein particles. " 10/09/2004 - "To compare the lipoprotein phenotype between FDB and heterozygous familial hypercholesterolemia (FH); to study the prevalence and possible founder effect of familial ligand-defective apo B100 (FDB) in a Mediterranean population, and to analyze the clinical and biochemical characteristics of FDB patients. " 10/01/2002 - "This study evaluated the frequency of abnormal TG and HDL-C levels in patients with classical familial hypercholesterolemia (FH) and assessed therapeutic response at different baseline levels of these lipoproteins after 1 year of statin therapy. " 12/01/2001 - "The aim of this study was to determine the effects of low-density lipoprotein (LDL) particle size and composition on the susceptibility of LDL to oxidation in subjects with Familial Hypercholesterolemia (FH). "
4.	atorvastatin (Lipitor)FDA Link 01/15/2005 - "Long-term safety and efficacy of high-dose atorvastatin treatment in patients with familial hypercholesterolemia." 04/01/2011 - "An eight-week trial investigating the efficacy and tolerability of atorvastatin for children and adolescents with heterozygous familial hypercholesterolemia." 01/01/2003 - "Efficacy and tolerability of atorvastatin (20 mg/day) were assessed in a 3 month study on 19 patients (5 men, 14 women, mean age 52.3 years) with familial hypercholesterolemia. " 12/01/2014 - "POR*28 SNP is associated with lipid response to atorvastatin in children and adolescents with familial hypercholesterolemia." 05/01/2013 - "Population pharmacokinetics of atorvastatin and its active metabolites in children and adolescents with heterozygous familial hypercholesterolemia: selective use of informative prior distributions from adults."
5.	LDL Receptors (LDL Receptor)IBA 03/01/2007 - "Phenocopies of homozygous familial hypercholesterolemia (hoFH) having autosomal recessive inheritance, were recently found to arise from defects in the LDL receptor (LDLR) adapter protein, called ARH, which facilitates the clearance of circulating LDL. " 12/01/2002 - "Familial hypercholesterolemia is an autosomal dominant disorder with a gene-dosage effect that is usually caused by mutations in the LDL receptor gene that disrupt normal clearance of LDL. " 11/01/1998 - "In view of the presence of some 190 mutations in the low density lipoprotein receptor (LDL-R) gene and a lack of simple detection methods, we have developed an improved assay system for detecting familial hypercholesterolemia (FH) using mitogen-induced proliferating lymphocytes. " 11/01/1998 - "Improved detection of familial hypercholesterolemia by determining low density lipoprotein receptor expression in mitogen-induced proliferating lymphocytes." 01/01/2015 - "This study aimed to investigate the exact prevalence of familial hypercholesterolemia (FH) in the general population, taking advantage of the fact that five low-density lipoprotein receptor (LDLR) founder mutations account for 78% of FH cases in Finland. "
6.	Lovastatin (Mevacor)FDA LinkGeneric 05/01/1989 - "In this study, lovastatin was a well tolerated and effective agent for the treatment of non familial and heterozygous familial hypercholesterolemia." 11/01/1987 - "Lovastatin was well tolerated and effective in the treatment of familial hypercholesterolemia." 09/01/2005 - "Lovastatin offers an efficacious and well-tolerated treatment option for improving lipid profiles in adolescent girls with familial hypercholesterolemia." 09/01/1986 - "Comparative efficacy of once versus twice daily mevinolin in the therapy of familial hypercholesterolemia." 09/01/2005 - "The present study was designed to evaluate the lipid-altering efficacy, safety, and tolerability of lovastatin treatment in adolescent girls with heterozygous familial hypercholesterolemia. "
7.	Simvastatin (Zocor)FDA LinkGeneric 02/01/1989 - "Simvastatin seems to be an effective and safe drug as monotherapy in the treatment of heterozygous familial hypercholesterolemia." 12/18/2002 - "This study was designed to determine whether simvastatin improves endothelial function in children with familial hypercholesterolemia (FH). " 10/22/2002 - "Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin." 07/15/2002 - "Two-year efficacy and safety of simvastatin 80 mg in familial hypercholesterolemia (the Examination of Probands and Relatives in Statin Studies With Familial Hypercholesterolemia [ExPRESS FH])." 01/01/1999 - "This study was a 1-year clinical study on 16 (7 males and 9 females) pediatric patients with heterozygous familial hypercholesterolemia treated with hypocholesterolemic diet only, or with diet plus drug (simvastatin 10 mg/day). "
8.	Pravastatin (Pravachol)FDA LinkGeneric 06/01/2015 - "In addition, in a 10-year follow-up study after a pravastatin intervention trial, long-term statin therapy in young adult familial hypercholesterolemia patients was associated with normalization of cIMT progression and appeared effective in prevention of very premature cardiovascular events. " 05/01/1996 - "The safety, tolerability, and efficacy of a 12-wk treatment with pravastatin, 5, 10, and 20 mg/d, was evaluated in 72 children with heterozygous familial hypercholesterolemia (FH) in a double-blind, randomized and placebo-controlled study. " 06/01/2008 - "Trials have shown that treatment with pravastatin is safe in older patients as well as in children with familial hypercholesterolemia. " 08/07/2007 - "We previously demonstrated in a randomized placebo-controlled trial that 2-year pravastatin treatment induced a significant regression of carotid intima-media thickness (IMT) in 8- to 18-year-old children with familial hypercholesterolemia. " 04/01/1993 - "We conducted a double-blind, placebo controlled study of pravastatin in 51 patients with familial hypercholesterolemia (FH) (n = 43) or probable FH (n = 8). "
9.	ezetimibe (Zetia)FDA Link 11/13/2012 - "AMG 145 administered every 4 weeks yielded rapid and substantial reductions in LDL-C in heterozygous familial hypercholesterolemia patients despite intensive statin use, with or without ezetimibe, with minimal adverse events and good tolerability. " 11/13/2012 - "Patients with heterozygous familial hypercholesterolemia diagnosed by Simon Broome criteria with LDL-C ≥2.6 mmol/L (100 mg/dL) despite statin therapy with or without ezetimibe were randomized 1:1:1 to AMG 145 350 mg, AMG 145 420 mg, or placebo-administered subcutaneously every 4 weeks. " 07/01/2012 - "to show our experience on the use of ezetimibe in children and adolescents with familial hypercholesterolemia, with short and medium term follow-up. " 07/01/2012 - "[Use of ezetimibe in the treatment of familial hypercholesterolemia in children and adolescents]." 01/01/2010 - "Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolemia."
10.	HDL CholesterolIBA 05/12/2011 - "The aim of this study was to compare HDL-cholesterol and triglyceride levels in patients with familial hypercholesterolemia (FH) with a representative sample of the Czech population. " 10/01/2005 - "The objective of this study was to determine the extent to which common genetic variants can explain the variation of high-density lipoprotein cholesterol (HDL-C) plasma levels in familial hypercholesterolemia (FH). " 01/01/1992 - "Patients with familial hypercholesterolemia have a progression/regression ratio of between 3 and 7. There is a consistent relationship between the progression/regression ratio and the LDL-/HDL-cholesterol ratio in both control and intervention groups in these trials. " 04/01/2015 - "The single nucleotide polymorphism was genotyped by Taqman(®) assay in a cohort of 601 unrelated familial hypercholesterolemia patients and its association with plasma triglyceride and high-density lipoprotein cholesterol levels was analyzed by multivariate methods based on linear regression. " 12/01/2012 - "Epigenome-wide analysis in familial hypercholesterolemia identified new loci associated with high-density lipoprotein cholesterol concentration."

Therapies and Procedures

1.	Blood Component Removal (Apheresis) 01/01/2001 - "At present, LDL-apheresis is the most effective and safe therapeutic approach to the treatment of homozygous, heterozygous and double heterozygous familial hypercholesterolemia." 08/01/2003 - "The present data demonstrate that treatment with LDL apheresis of patients suffering from familial hypercholesterolemia resistant to maximum conservative therapy is very effective and safe even in long-term application." 02/01/2002 - "The present data demonstrate that treatment with LDL apheresis of patients suffering from familial hypercholesterolemia resistant to maximum conservative therapy is very effective and safe even in long-term application." 09/01/1999 - "The present data demonstrate that treatment with LDL-apheresis of patients suffering from familial hypercholesterolemia resistant to maximum conservative therapy is very effective and safe, even in long-term application." 01/01/2015 - "A group of 12 patients (average age 47±17 y, 4 homozygous and 8 heterozygous individuals) with familial hypercholesterolemia treated by LDL-apheresis or rheohaemapheresis for 3-12 y was included in the study. "
2.	Plasma Exchange 01/01/1985 - "Several non-pharmacological treatments have been tested for homozygous familial hypercholesterolemia and, among these, plasma-exchange has been the most safe and effective. " 10/01/2010 - "Safety and efficacy of therapeutic plasma exchange in a pregnant patient with familial hypercholesterolemia." 11/01/1985 - "Repeated plasma exchange is an effective treatment for young patients with familial hypercholesterolemia. " 01/01/2009 - "Homozygous familial hypercholesterolemia: long term clinical course and plasma exchange therapy for two individual patients and review of the literature." 07/01/1998 - "The use of plasma-exchange therapy has increased the longevity of patients with homozygous familial hypercholesterolemia (HFH), and pregnancy in affected women is expected to become more common. "
3.	Drug Therapy (Chemotherapy) 01/01/1994 - "This system was evaluated in a nine-center controlled study of patients with familial hypercholesterolemia (FH) who had not responded adequately to diet and drug therapy. " 12/01/2015 - "Therapeutic Management of Familial Hypercholesterolemia: Current and Emerging Drug Therapies." 01/01/2014 - "This article briefly summarizes familial hypercholesterolemia and then discusses the newer pharmacotherapies available in the management of familial hypercholesterolemia. " 06/01/2013 - "A number of novel emerging drug therapies are in development, some recently approved for use in patients with familial hypercholesterolemia. " 01/01/1997 - "There are now several efficient and safe extracorporeal LDL eliminating procedures for the treatment of patients with familial hypercholesterolemia (FH) resistant to diet and combined drug therapy. "
4.	Transplants (Transplant) 11/01/2014 - "None of the patients had CVRF before LT, except 1 patient who received a transplant because of familial hypercholesterolemia. " 05/01/2010 - "Domino liver graft from a patient with homozygous familial hypercholesterolemia." 09/01/2000 - "Role of orthotopic liver transplant in the treatment of homozygous familial hypercholesterolemia." 03/01/1992 - "Coronary bypass using arterial grafts in homozygous familial hypercholesterolemia." 08/01/2009 - "Domino liver transplantation using a graft from a donor with familial hypercholesterolemia: seven-yr follow-up."
5.	Diet Therapy (Therapy, Diet) 05/01/1987 - "[Changes in the fatty acid composition of erythrocyte and platelet membranes after diet therapy in patients with hyperlipoproteinemia type II]." 08/30/1992 - "[Familial hypercholesterolemia--intensive diet therapy combined with drug therapy]." 04/01/1990 - "These results indicate that diet therapy with free-cholesterol and a high ratio of P/S is highly effective in controlling plasma cholesterol levels in heterozygous familial hypercholesterolemia." 04/01/1990 - "We have studied the effect of diet therapy on plasma lipoprotein metabolism in heterozygous familial hypercholesterolemia. " 07/01/1984 - "For individuals with severe lipoprotein disorders such as familial hypercholesterolemia where diet therapy is helpful but not adequate, the use of medications is now indicated (bile acid binding resins and nicotinic acid). "