61. Health Library Find Information On Familial Hypercholesterolemia Find information on familial hypercholesterolemia at MerckSource. Learnmore familial hypercholesterolemia. Definition A dominantly http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

62. EMedicine - Hypercholesterolemia, Familial : Article By Elena Citkowitz, MD, PhD Hypercholesterolemia, Familial familial hypercholesterolemia (FH) is an autosomaldominant disorder that causes severe elevations in total cholesterol and low http://www.emedicine.com/MED/topic1072.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Endocrinology Hypercholesterolemia, Familial Last Updated: October 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: FH, heterozygous familial hypercholesterolemia, homozygous familial hypercholesterolemia, monozygous hypercholesterolemia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Elena Citkowitz, MD, PhD, FACP , Director of Cholesterol Management Center, St Raphael Physicians, Inc, Associate Clinical Professor of Internal Medicine, Department of Internal Medicine, Hospital of St Raphael, Yale University School of Medicine Elena Citkowitz, MD, PhD, FACP, is a member of the following medical societies: American College of Physicians American Heart Association , and Sigma Xi Editor(s): Gregory William Rutecki, MD

63. Cholesterol familial hypercholesterolemia. familial hypercholesterolemia is a monogenicdisorder caused by LDL receptor dysfunction. Inheritance http://aci.mta.ca/Courses/Biochemistry/BC4511B-Lipid/Corey/chol7.htm

Familial Hypercholesterolemia Familial hypercholesterolemia is a monogenic disorder caused by LDL receptor dysfunction. Inheritance is an autosomal dominant trait with a gene dosage effect, this means that homozygotes are more severely affected than heterozygotes. Heterozygotes are found in one in every 500 people, while homozygotes are 1 per million. What happens is that LDL levels become increasingly high due to the disfunction or complete lack of the LDL receptor. Cholesterol then begins to deposit in abnormal sites, particularly arteries. In homozygotes, death usually occurs before the age of 15, caused by heart attacks. It is less severe in heterozygotes, men will have a 75% chance of experiencing a heart attack before age 60, as opposed to 15% in normal men. Female risk is 45%, as opposed to 10% in normal women. [back]

64. Health Ency.: Disease: Familial Hypercholesterolemia familial hypercholesterolemia See images. http://www.austin360.com/shared/health/adam/ency/article/000392trt.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease F Familial hypercholesterolemia See images Overview Symptoms Treatment ... Prevention Alternative names: Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation Treatment The goal of treatment is to reduce the risk of atherosclerotic heart disease and resulting myocardial infarction heart attack Diet modification is the initial phase of treatment and is tried for several months before drug therapy is added. Diet modifications include reducing total fat intake to less than 30% of the total calories consumed. Saturated fat intake is reduced by decreasing the amounts of beef, pork, and lamb; substituting low-fat dairy products; and eliminating coconut and palm oil. Cholesterol intake is reduced by eliminating egg yolks, organ meats and sources of animal-derived saturated fat. Further reductions in the percentage of fat in the diet may be recommended after the initial trial period. Dietary counseling is often recommended to assist people with these adjustments to their eating habits. Exercise , especially to induce weight loss , may also aid in lowering cholesterol levels Drug therapy may be initiated if diet, exercise, and

65. Health Ency.: Disease: Familial Hypercholesterolemia familial hypercholesterolemia See images. Symptoms. a strong family historyof familial hypercholesterolemia or early myocardial infarction; http://www.austin360.com/shared/health/adam/ency/article/000392sym.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease F Familial hypercholesterolemia See images Overview Symptoms Treatment ... Prevention Alternative names: Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation Symptoms a strong family history of familial hypercholesterolemia or early myocardial infarction elevated and therapy-resistant levels of LDL in either or both parents xanthomas (lesions caused by cholesterol rich lipoprotein deposits) cholesterol deposits in the eyelids (xanthelasmas) chest pain angina ) associated with coronary artery disease evidence of obesity Signs and Tests A physical examination may reveal xanthomas, xanthelasmas and cholesterol-laden deposits called a corneal arcus. Laboratory testing may show: elevated triglycerides protein electrophoresis may show abnormal results total plasma cholesterol that is greater than 300 mg/cc (adult) total plasma cholesterol that is greater than 250 mg/cc (children) serum LDL that is higher than 200 studies of heart function, such as a stress test, may be abnormal

66. Mathews/van Holde/Ahern 3rd Edition familial hypercholesterolemia (FH) familial hypercholesterolemia (FH) isa hereditary disease. INTERNET LINK familial hypercholesterolemia. http://www.awlonline.com/mathews/ch18/c18fh.htm

Familial Hypercholesterolemia (FH) Familial Hypercholesterolemia FH ) is a hereditary disease. Individuals with FH typically have mutations affecting their LDL Receptor (see below). The result of these mutations is a higher than normal level of serum cholesterol. Individuals who are homozygous for the disease have very high levels of cholesterol in the blood and usually die of heart disease before age 20. People heterozygous for the disease have higher than normal cholesterol and are at high risk for heart attacks in their thirties and forties. Cultured fibroblasts from FH individuals synthesize cholesterol at abnormally high levels in the presence of LDLs, compared to normal cells. This activity is linked to the enzyme HMG-CoA reductase, the major regulatory enzyme of cholesterol biosynthesis, which is allosterically inactivated by cholesterol. Cells from FH individuals have an impaired ability to take up cholesterol, via receptor mediated endocytosis, thus requiring endogenous synthesis. LDL levels in the bloodstream remain high, due to lack of uptake. High LDL levels favor oxidation of the components of the LDL and ultimately formation of atherosclerotic plaques. Phenotypes of the LDL receptor mutations in FH individuals are as follows: 1. Reductions in amount of LDL receptor made;

67. Hypercholesterolemia genetics. familial hypercholesterolemia is the most common inherited disease.About way. *Quotes taken from familial hypercholesterolemia. For http://www.usoe.k12.ut.us/curr/Science/core/bio/genetics/hypercholesterolemia.ht

Hypercholesterolemia - Familial Inheritance autosomal dominant Occurrence of heterozygotes 1 in 500 Occurrence of homozygotes 1 per million Description excessive levels of cholesterol in the blood stream Cause Mutations in the LDL receptor (LDLR) gene on chromosome 19 Cholesterol the good, the bad and the ugly Introduction: Most of your students should have at least some knowledge about cholesterol. Most probably feel it has a negative connotation. The purpose of this discussion is to introduce students to HDL, LDL and hypercholesterolemia (respectively, the good, the bad, and the ugly). Activity: There are two ways to approach this activity: (1) Have students record their nutritional information for one entire meal. They should record what they ate, how much, and the nutrition information from the labels on the packages. It is important to remind them to include everything. For example, if they had a sandwich they would need to record bread, mayonnaise, mustard, lettuce, tomatoes, pickles, and turkey. Students like this option because they have autonomy, and it is individual; however, it will still be necessary to prepare for the second way in the event that students forget. Have the students calculate the number of calories, grams of fat, grams of carbohydrates, grams of protein, milligrams of sodium, and milligrams of cholesterol consumed for one of their meals. (2) Plan a regular meal. Have copies of the nutrition information for each food item. Have the students calculate the number of calories, grams of fat, grams of carbohydrates, grams of protein, milligrams of sodium, and milligrams of cholesterol consumed.

68. Searchalot Directory For Familial Hypercholesterolemia Drkoop.com Medical Encyclopedia An in depth look at familial hypercholesterolemia. MedicineNet- A brief article about familial hypercholesterolemia. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Fami

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Familial Hypercholesterolemia Related Web Sites Drkoop.com: Medical Encyclopedia - An in depth look at familial hypercholesterolemia. Medic-Planet - A description of familial hypercholesterolemia, with a look at the causes, incidence, symptoms, treatment and outlook. Yahoo Health - An overview of familial hypercholesterolemia including, symptoms, treatment and prevention. MedicineNet - A brief article about familial hypercholesterolemia. When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? - JAMA. 281;180-181, Article by Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD. Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon

69. High Cholesterol Often Goes Undetected --- HealthandAge it. familial hypercholesterolemia is an inherited disorder markedby lifelong elevated levels of blood cholesterol. Left untreated http://www.healthandage.com/Home/gm=7!gid2=840

English site German site March 30, 2003 Home Health Centers HealthandAge Network News ... Primer on Aging Choose Font Size Normal Large Extra Large High Cholesterol Often Goes Undetected High Cholesterol Often Goes Undetected High Cholesterol Often Goes Undetected Source: Tufts University October 22, 2000 (Reviewed: December 13, 2002) An article in a recent issue of the British Medical Journal warns physicians that those people at greatest risk for heart attack may have dangerously high blood levels of cholesterol and not even be aware of it. Familial hypercholesterolemia is an inherited disorder marked by lifelong elevated levels of blood cholesterol. Left untreated, up to one-half of men and one-third of women with this condition will suffer a heart attack. In an attempt to determine the scope of this problem, researchers in England examined the medical records of people thought to have a family history of high cholesterol. People were considered to be at high risk for familial hypercholesterolemia if they had a total cholesterol level greater than 7.5 mmol/l (equal to 276 mg/dl in American measurements) or an LDL cholesterol level greater than 4.9 mmol/l (equal to 180 mg/dl in American measurements). Researchers also checked the medical records for mention of tendon xanthomas, which are painful nodules or deposits commonly found in or near the joints of those with familial hypercholesterolemia.

70. Clinical Study: 85-H-0105, Cardiovascular Evaluation Of Patients With Familial H Title Cardiovascular Evaluation of Patients with familial hypercholesterolemiaand Normal Individuals Number 85H-0105 Summary Homozygous familial http://clinicalstudies.info.nih.gov/detail/A_1985-H-0105.html

Protocol Number: 85-H-0105 Title: Cardiovascular Evaluation of Patients with Familial Hypercholesterolemia and Normal Individuals Number: 85-H-0105 Summary: Homozygous familial hypercholesterolemia is a rare inherited disease of metabolism. It occurs in less than 1 in 1 million people within the United States. Patients with the disease are typically children and young adults who develop heart disease early in life. Children less than age 5 years with this disease have suffered heart attacks and death. The normal process that removes cholesterol particles from the blood stream does not work in patients with this disease. It causes cholesterol to build-up in the arteries and leads to hardening of the arteries (atherosclerosis). The goal of this study is to detect and measure atherosclerosis in these patients before it becomes permanent and potentially life threatening. Patients with this disease can participate in this study. Researchers plan to evaluate patients with homozygous familial hypercholesterolemia using new and standard methods for detecting atherosclerosis. Researchers plan to use information gathered during this study to develop new, promising treatments such as liver transplantation and gene therapy.

71. Untitled Document Effect of LDL Apheresis on Obstructive Changes in Aortocoronary Saphenousvein BypassGrafts in a Case of Heterozygous familial hypercholesterolemia with the http://www.liposorber.com/physician/clinical/clin.htm

References Some of the references may include discussions of off-label uses not listed in the approved Full Prescribing Information included in this site. Kaneka Pharma America Corp. has included these abstracts as educational and background information only. Stefanutti C, Di Giacomo S, Vivenzio A, Isacchi G.C, Masella R, Caprari P, et al. Acute and long-term effects of low-density lipoprotein (LDL)-apheresis on oxidative damage to LDL and reducing capacity of erythrocytes in patients with severe familial hypercholesterolaemia. Clinical Science Stefanutti C, Di Giacomo S, Vivenzio A, Colloridi V, Bosco G, Berni A, et al. Low-density lipoprotein apheresis in a patient aged 3.5 years. ACTA PAEDIATR Takahashi K, Kobayashi J, Bujo H, Takahashi M, Taira K, et al. Long-term (14 years) Effect of LDL Apheresis on Obstructive Changes in Aortocoronary Saphenous-vein Bypass Grafts in a Case of Heterozygous Familial Hypercholesterolemia with the LDL Receptor Proline664 to Leucine Mutation. Intern Med Lepage S, Nigon F, Bonnefont-Rousselot D, Assogba U, Goulinet S, Chancharme L, et al.

72. Simvastatin Safe And Effective For Children With Familial Hypercholesterolemia Simvastatin Safe and Effective for Children with familial hypercholesterolemia.11/08/2002 Simvastatin at doses up to 40 mg is http://www.geocities.com/rmcra3/simvachild.html

Simvastatin Safe and Effective for Children with Familial Hypercholesterolemia 11/08/2002 Simvastatin at doses up to 40 mg is safe and effective therapy for children with familial hypercholesterolaemia. Saskia de Jongh, MD, and colleagues at the University of Amsterdam's Academic Medical Center, in Amsterdam, the Netherlands, conducted a multicentre, randomised, double-blind, placebo-controlled trial of simvastatin in a cohort of 173 children with familial hypercholesterolaemia. Their goal was to evaluate the effect on low-density lipoprotein (LDL) cholesterol, safety, and tolerability of simvastatin in children with this inherited disorder, including any effects of therapy on their growth and pubertal development. After a four-week diet and placebo run-in period, 98 boys and 75 girls with familial hypercholesterolaemia were randomised to receive either simvastatin or placebo in a ratio of 3:2. Simvastatin was started at 10 mg/d and titrated at 8-week intervals to 20 mg/d and then 40 mg/d. During a 24-week extension period, the patients continued to receive 40 mg of simvastatin or placebo according to their assignment.

73. Pp. 125-128 In Intractable Neurological Disorders, Human Genome coronary artery disease, it is possible to analyze the responsible genes, or theirprotein products, in the case of familial hypercholesterolemia due to the http://www.biol.tsukuba.ac.jp/~macer/IND/INDHH.html

pp. 125-128 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993. Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute. Genetic screening for prevention of common diseases Hideo Hamaguchi Professor, Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, JAPAN Presymptomatic diagnosis for common diseases in which preventive measures and therapy are available is considered to be useful for the prevention of the diseases. Good examples include premature coronary artery disease where genetic and environmental factors contribute to risk. There is ample possibility to prevent premature coronary artery disease by dietary therapy, no smoking and medication. Among the genetic factors of premature coronary artery disease, it is possible to analyze the responsible genes, or their protein products, in the case of familial hypercholesterolemia due to the mutant low density lipoprotein (LDL) receptor gene and in the case of high plasma lipoprotein(a) (Lp(a)) concentrations due to genetically determined small size apolipoprotein(a) (apo(a)) genes (Table 1). Table 1: Presymptomatic diagnosis for common diseases where intervention is possible Example: Coronary artery disease (1) Familial hypercholesterolemia due to the mutant LDL receptor gene

74. Hypo4 Primary Hypercholesterolemia familial hypercholesterolemia autosomaldominant trait; Serum cholesterol (heterozygous adults) 260 http://www.pharmacology2000.com/Cardio/hypo/hypo4.htm

Primary Hypercholesterolemia Familial Hypercholesterolemia autosomal dominant trait Serum cholesterol (heterozygous adults): 260-500 mg/dL Triglycerides: within normal limits return to main menu Clinical Manifestations: (heterozygous) tendinous xanthomatosis xanthelasmas (eyelids soft yellowish spots or plaques; form of xanthomas) premature coronary atherosclerosis Clinical Manifestations: (homozygous) coronary vascular disease childhood early tuberous and tendinous xanthomatosis plaque-like, elevated xanthomas of aortic valves, digital webs, buttocks, extremities return to main menu Mechanism:familial hypercholesterolemia High-affinity LDL receptor defect return to main menu Clinical Management:familial hypercholesterolemia in heterozygotes: drug regimens can result in normal LDL levels niacin may be beneficial in patients with no LDL receptor function return to main menu Familial Ligand-Defective Apolipoprotein B

75. Familial Hypercholesterolemia (FH) familial hypercholesterolemia (FH). Brown and Goldstein studies. Mutation at asingle autosomal locus. ~ Absence of deficiency of functional. receptors for LDL. http://opbs.okstate.edu/~Blair/Bioch4113/1999 Student Presentations/Twyman LSL R

Familial Hypercholesterolemia (FH) Brown and Goldstein studies Mutation at a single autosomal locus ~ Absence of deficiency of functional receptors for LDL Lovastatin Previous slide Next slide Back to first slide View graphic version

76. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Sites MedicineNet A brief article about familial hypercholesterolemia. When ShouldPatients With Heterozygous familial hypercholesterolemia Be Treated? http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Genetic Disorders : Familial Hypercholesterolemia See also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Sites: MedicineNet - A brief article about familial hypercholesterolemia. Medic-Planet - A description of familial hypercholesterolemia, with a look at the causes, incidence, symptoms, treatment and outlook. Yahoo Health - An overview of familial hypercholesterolemia including, symptoms, treatment and prevention. When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? - JAMA. 281;180-181, Article by Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD. Last update: 15:10 PT, Wednesday, October 23, 2002 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

77. Familial Hypercholesterolemia familial hypercholesterolemia Alternative Names type IIa hyperlipoproteinemia Definitionfamilial hypercholesterolemia is an inherited disease that causes high http://atoz.iqhealth.com/HealthAnswers/encyclopedia/HTMLfiles/27.html

familial hypercholesterolemia Alternative Names type IIa hyperlipoproteinemia Definition Familial hypercholesterolemia is an inherited disease that causes high cholesterol levels. What is going on in the body? Normally, the liver regulates the amount of cholesterol or fat in the blood. It uses special docking sites, or receptors, to remove extra cholesterol. A person with familial hypercholesterolemia inherits an abnormal gene for the docking site from one or both parents. If an abnormal gene is inherited from one parent, the body makes only half of the usual number of docking sites. If the abnormal gene is inherited from both parents, the body makes no docking sites. In either case, the level of cholesterol gets too high in the blood. This can lead to heart attacks strokes , and other problems. What are the signs and symptoms of the condition? One of the main health issues with any cholesterol problem is that there are often no obvious symptoms of the condition before the development of coronary artery disease Because of the very high cholesterol levels, many people with this disease develop cholesterol deposits in the skin. These are often seen on the: Achilles tendons knuckles of the hand eyelids elbows What are the causes and risks of the condition?

78. Alessandri Cesare [801] Translate this page Stefanutti C. Long-term evaluation of high dosage administration ofsimvastatin in patients with familial hypercholesterolemia, 181, 91. http://www.fatma.cnr.it/pub801.htm

Pubblicazioni FATMA 1991-1998 Alessandri Cesare Riviste internazionali Primo autore Titolo Rivista vol. pag. anno Alessandri C. Effects of hydroxymethylglutaryl-coenzyme a reductase inhibitors on some blood coagulation parameters Curr. Ther. Res. Alessandri C. Relationship between lipoprotein(a) levels in serum and some indices of protein synthesis in liver cirrhosis Clin. Chim. Acta Alessandri C. Multifactorial therapeutic approach to secondary prevention in coronary heart disease: preliminary report after 3-year follow-up Curr. Ther. Res. Alessandri C. Lipoprotein (a) does not influence hyperfibrinolysis in patients with liver cirrhosis Fibrinolysis Riviste nazionali Primo autore Titolo Rivista vol. pag. anno Alessandri C. Comportamento della curva di polimerizzazione del fibrinogeno in soggetti ipercolesterolemici Clin. Ter. Alessandri C. Rapporti tra fibrinogemia e lipoproteine plasmatiche in pazienti ipercolesterolemici Minerva Med. Abstract Primo autore Titolo Rivista vol. pag. anno Stefanutti C. Il trattamento extracorporeo della ipercolesterolemia familiare omozigote mediante plasmaferesi selettiva delle lipoproteine aterogene (LDL-aferesi) Stefanutti C.

79. On-going Projects Ongoing Projects. GENTHROFH - Genetics of Thrombosis in familial hypercholesterolemia.TF-FVII activation pathway polymorphisms and http://www.cmns.mnegri.it/en/institute/other/Iacoviello/projects/genthrofh.html

80. Search Results For Familial Hypercholesterolemia Search familial hypercholesterolemia (All words), Date 05/03/2002. When ShouldPatients With Heterozygous familial hypercholesterolemia Be Treated? JAMA. http://www.uam.es/personal_pdi/ciencias/gpepe/g-humana/clases/Tema_09-metabolism

COPERNIC 2001 SEARCH RESULTS Search: Familial hypercholesterolemia (All words) Date: Found: 40 document(s) on The Web Sort: Score When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? JAMA. 281;180-181, January 13, 1999, When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated?, Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD Found by: AltaVista, Open Directory Project, Lycos http://jama.ama-assn.org/issues/v281n2/ffull/jed80110.html Translate Definition for: Familial ... hypercholesterolemia Familial hypercholesterolemia : Chapter: 10 An autosomal dominant disease with a defect in the LDL receptors resulting in markedly increased cholesterol level and an increased incidence of early onset Found by: HotBot, MSN Web Search http://www.kumc.edu/instruction/medicine/pathology/ed/keywords/kw_ familial .html Translate ... Make Early Diagnosis to Prevent Early Deaths (MEDPED) research project and non-profit organization that helps people with the treatment of Familial Hypercholesterolemia and other inherited cholesterol disorders.

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