Arch Intern Med Abstract Regression Of Carotid And Femoral Regression of Carotid and Femoral Artery IntimaMedia Thickness in familial hypercholesterolemia Treatment With Simvastatin http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: home genetic news bioinformatics biotechnology ... register for news alert May, 28 2001 23:59 While cholesterol is required for normal health, too much of it can be deadly. Along with high blood pressure and cigarette smoking, it is one of the three major risk factors for heart disease. More than half of all adult Americans have a blood cholesterol level that is higher than 'desirable.' The problem with too much blood cholesterol is that over time it can build up in the walls of your arteries (a process called atherosclerosis) and can slow or block the flow of blood to your heart. Among many things, blood carries a constant supply of oxygen to the heart. Without oxygen, heart muscle weakens, resulting in chest pain, heart attacks, or even death. There are two types of cholesterol - 'good' and 'bad'. Actually these descriptions refer to the lipoproteins that carry cholesterol throughout the body. 'Good' cholesterol is associated with high density lipoproteins (HDLs) that remove excess cholesterol from the body by transporting it to the liver where it is disposed of. 'Bad' cholesterol is associated with low density lipoproteins (LDLs). Getting cholesterol into cells requires the LDL receptor. Normally, the LDL receptor keeps the cholesterol level in balance. If the receptor malfunctions then cholesterol levels can skyrocket. While most of us can control our blood cholesterol levels by following a diet that is low in saturated fat and cholesterol, a small percentage of people cannot. About 7 out of 1000 people suffer from familial hypercholesterolemia (FH). FH is an inherited genetic disease that is marked by high cholesterol levels and an increased risk of heart disease. Currently, there are more than 600 mutations in the LDL receptor gene that give rise to FH.
Familial Hypercholesterolemia - Wikipedia, The Free Encyclopedia In medicine, familial hypercholesterolemia is a rare disease characterised byvery high LDL cholesterol and early cardiovascular disease running in families http://en.wikipedia.org/wiki/Familial_hypercholesterolemia
Extractions: Over US$225,000 has been donated since the drive began on 19 August. Thank you for your generosity! In medicine familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. It is a genetic disorder edit Premature cardiovascular disease , such as: A family history of premature atherosclerosis Physical signs (not always present): Tendon xanthomas (thickening of tendons due to accumulation of macrophages filled with cholesterol Xanthelasma palpabrum (yellowish patches above the eyelids) Arcus senilis corneae, whitish discoloration of the iris
Familial Hypercholesterolemia - Main Page familial hypercholesterolemia (FH) (OMIM 143890) is an autosomaldominant Studies of familial hypercholesterolemia molecular basis in St-Petersburg and http://www.iemrams.spb.ru:8100/english/molgen/fh-en/fh-main-e.htm
Extractions: Familial hypercholesterolemia (FH) OMIM 143890 ) is an autosomal-dominant disorder of metabolism caused by lowering of the low-density lipoprotein (LDL) clearance from blood. The genetic causes of FH are the mutations in the specific LDL receptor gene. The FH patients are characterized by an increase of blood plasma cholesterol and especially of LDL cholesterol. This increase in LDL cholesterol leads to the development of atherosclerosis and premature myocardial infarction in FH patients. FH is one of the most common monogenic disorders in man with the prevalence 1:500 in most populations. The LDL receptor gene mutation spectrum is specific for different ethnic groups. The FH diagnostics is based both on clinical features of patients and on knowledge of mutations leading to the development of FH in each country. Clinical features of FH St.Petersburg FH working group Studies of familial hypercholesterolemia molecular basis in St-Petersburg and creation of this page were supported in part by grants from Russian Fund for Basic Research 00-04-48962, state programm "Leading scientific schools of Russia" 00-15-97931, national programm "Human Genome". You are kindly asked to send your proposals to improve this page and your questions to Mikhail Mandelshtam using the e-mail : michail@molgen.iem.ras.spb.ru
Treatment Of Familial Hypercholesterolemia HDL, familial hypercholesterolemia Treatment of familial hypercholesterolemia.Only an experienced physician can recommend the specific FH treatment http://www.iemrams.spb.ru:8100/english/molgen/fh-en/treatm-e.htm
Extractions: Treatment of familial hypercholesterolemia Only an experienced physician can recommend the specific FH treatment (See: Bibliography ). For rare patients with homozygous FH (prevalence 1:1000000) (See: Clinical features ) only lipoprotein (LDL) desorbtion plasmapheresis combined with rather high doses of statins (60-80 mg/day) can be the only effective method of treatment. In contrast, for the common (prevalence 1:500) heterozygous FH (See page: Clinical features ) the effective drug treatment was developed. The most effective drugs for treatment of heterozygous FH are statins - specific inhibitors of the cholesterol biosynthesis key enzyme, hydroxymethylglutaryl-coenzymeA-reductase (HMG-CoA-reductase). Usually 40-60 mg statin/day give positive results in heterozygous FH. Symvastatin (commercial name "Zocor", manufactured by "Merck Sharp and Dohme") is one of the most widely used statins. Atorvastatin (commercial names "Liprimar". "Lipitor") is one of the most effective statins. There is a number of other drugs of the same specificity with different commercial names. The doses of statins necessary for the treatment must be high enough and the treatment must be constant. The doses of statins necessary for the treatment vary depending of statin type and degree of hyperlipidemia in the patient. During the course of treatment by statins the level of the hepatic enzymes - transaminases should be checked. Provided myalgia develops, the level of phosphocreatinekinase in the blood should be controlled.
Extractions: n. See type II familial hyperlipoproteinemia See hypercholesterolemia (sense ). WordNet Note: click on a word meaning below to see its connections and related words. The noun familial hypercholesterolemia has one meaning: Meaning #1 congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis Wikipedia familial hypercholesterolemia In medicine familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. It is a genetic disorder Premature cardiovascular disease , such as: A family history of premature atherosclerosis Physical signs (not always present): Tendon xanthomas (thickening of tendons due to accumulation of macrophages filled with cholesterol Xanthalasma palpabrum (yellowish patches above the eyelids) Arcus senilis corneae, whitish discoloration of the iris
Familial Hypercholesterolemia familial hypercholesterolemia. OMIM Nï. 143890. The disease. FamilialHypercholesterolemia (FH) is a common autosomal dominant disease with a heterozygote http://www.ucy.ac.cy/~deltas/cyprusgmd/diseases/FH.htm
Extractions: OMIM Nï.: 143890 The disease The condition is developed when the receptor for the particle of LDL-cholesterol is defective, leading to inadequate uptake and internalization by the cells. This results in elevation of serum levels and predisposes to formation of atherosclerotic plaques and vascular obstruction. The gene The disease is caused by mutations in the gene encoding the low-density lipoprotein receptor (LDLR). It maps on chromosome 19p13.2. The LDL-receptor is a 160 KD cell surface transmembrane protein localized on the plasma membrane of hepatocytes. The gene for LDL receptor is more than 45 kb long and contains 18 exons, most of which correlate with multiple functional domains previously defined at the protein level. Of the 18 exons, 13 encode protein sequences that are homologous to sequences in other proteins such as EGF, clotting factors IX and X and others. Many groups worldwide have described more than 600 mutations of all kinds, affecting either the targeting of the protein to the membrane or the internalization of the receptor-ligand complex. For some mutations there is evidence suggesting genotype/phenotype correlation. Mutations identified in Cypriot patients Name Origin Nucleotide Change Location Effect on coding sequence Reference Trikomo Exon 8 Trikomo Exon 8 Central Highlands Exon 6 North West Exon 14 *They always occur together and are considered as one mutation.
Extractions: saveBookmark("", "", ""); Home Other Subjects Health Study Guides Lipids and Coronary Heart Disease : Familial Hypercholesterolemia - Navigate Here - Introduction Terms List Epidemiology Physiology of Lipid Metabolism Diagnosis Dietary Guidelines Drug Treatment of Hyperlipidemia Familial Hypercholesterolemia Bibliography Familial Hypercholesterolemia Familial hypercholesterolemia is an autosomal dominant disorder. It affects the gene that encodes a certain LDL cell surface receptor. This receptor is responsible for the hepatic uptake of LDL cholesterol. The milder, heterozygous form of the disease is more common, affecting approximately 1 in 500 persons. Homozygous familial hypercholesterolemia occurs at a rate of less than 1 in 1,000,000. The heterozygous form is characterized by marked (2-3x normal) elevations of LDL cholesterol and premature atherosclerosis that typically manifests itself in the fourth decade of life. Clinical clues to the presence of this disorder include a strong family history of early atherosclerotic cardiovascular disease, a family history of familial hypercholesterolemia, and physical evidence of lipid deposition, including tendon xanthomata, xanthelasma, and corneal arcus. The more severe homozygous phenotype is characterized by similar findings, but at an even earlier age. Patients may experience their first clinical events during the first or second decade of life. Aortic stenosis is also a characteristic abnormality that may be clinically apparent and hemodynamically significant before the age of 20.
Lipids Online Slides: Familial Hypercholesterolemia, Plant Sterols Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other http://www.lipidsonline.org/slides/slide01.cfm?q=familial hypercholesterolemia
Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Coronary artery blockage A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age. Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men. Individuals from families with a strong history of early heart attacks should be evaluated with a lipid screen. Proper diet, exercise, and the use of newer drugs can bring
Extractions: Figure 1. A baby boy was found to have familial hypercholesterolemia at the age of six months. His parents also had hypercholesterolemia. Seven and a half years later, studies of the activity of low-density lipoprotein (LDL) receptors in proliferating lymphocytes indicated that the parents were heterozygous and the child was homozygous for LDL-receptor deficiency. The child's serum cholesterol concentration ranged from 850 to 1000 mg per deciliter (22 to 26 mmol per liter), and he had cutaneous xanthomas on his knees (as shown), elbows, and interdigital folds. Because the hypercholesterolemia was refractory to treatment with lovastatin and cholestyramine, the Full Text of this Article
NEJM -- Homozygous Familial Hypercholesterolemia Images in Clinical Medicine from The New England Journal of Medicine Homozygousfamilial hypercholesterolemia. http://content.nejm.org/cgi/content/short/341/7/490
Extractions: Figure 1. A 39-year-old man with homozygous familial hypercholesterolemia because of a G C mutation at the acceptor-splice site of intron 7 of the low-density lipoprotein (LDL) receptor had undergone coronary-artery bypass grafting at the age of 29 years and carotid endarterectomy at the ages of 38 and 39 years. His plasma LDL cholesterol level ranged from 463 to 500 mg per deciliter (12 to 13 mmol per liter). Twice-monthly treatment with selective LDL filtration, with the use of apheresis and a macromolecular exclusion filter (pore size, approximately 2 x daltons), was begun and was subsequently supplemented
Extractions: Abstract Introduction Genes and Gene Variants Disease ... Medical Literature Search ABSTRACT Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low density lipoprotein receptor gene (
Extractions: AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Familial hypercholesterolemia in childhood: therapeutical options Pediatrics for Parents July, 2004 by Jessica Rodenburg
Pediatrics Treatment Of Familial Hypercholesterolemia In Children Full text of the article, Treatment of familial hypercholesterolemia in childrenand adolescents effect of lovastatin Canadian Lovastatin in Children http://www.findarticles.com/p/articles/mi_m0950/is_n5_v97/ai_18309856
Dr. Koop - Familial Hypercholesterolemia A dominantly inherited genetic condition that results in markedly elevated (lowdensitylipoprotein) cholesterol levels beginning at birth, and resulting in http://www.drkoop.com/ency/93/000392.html
Extractions: Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Injury Disease Nutrition Poison ... Prevention Definition: A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age. Causes, incidence, and risk factors: Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men.
