1Up Health Familial Hypercholesterolemia Causes, Incidence, Comprehesive information on familial hypercholesterolemia (Hypercholesterolemicxanthomatosis, Low density lipoprotein receptor mutation, Type II http://www.1uphealth.com/health/familial_hypercholesterolemia_info.html
Extractions: LDL > 500 mg/dL Research Study If you have homozygous familial hypercholesterolemia (FH), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings. Persons with homozygous familial hypercholesterolemia typically have a total and low density lipoprotein (LDL) cholesterol concentration greater than 700 mg/dL with normal triglycerides. Cholesterol deposits called xanthomas are frequently present in the first few years of life and are located on the elbows, knees, between the webs of the fingers and on the Achilles tendons. Eligible persons will undergo a comprehensive cardiac evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations. There is no cost to you for travel or medical testing.
Familial Hypercholesterolemia - Main Page familial hypercholesterolemia (FH) (OMIM 143890) is an autosomaldominant disorderof metabolism caused by lowering of the low-density lipoprotein (LDL 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 Treatment of familial hypercholesterolemia. Only an experienced physiciancan recommend the specific FH treatment (See Bibliography). 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.
Nature Publishing Group 2001 Volume 8 Number 6 pp 499 504 Implications for familial hypercholesterolemiafrom the structure of the LDL receptor YWTD-EGF domain pair Hyesung Jeon 1 http://www.nature.com/cgi-taf/DynaPage.taf?file=/nsb/journal/v8/n6/full/nsb0601_
Familial Hypercholesterolemia familial hypercholesterolemia. Definition A dominantly this condition. Theincidence of familial hypercholesterolemia is 7 out of 1000 people. http://www.pennhealth.com/ency/article/000392.htm
Extractions: 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, acute myocardial infarctions ( 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.
Familial Hypercholesterolemia familial hypercholesterolemia. Alternative Names Type II hyperlipoproteinemia;Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation. http://www.pennhealth.com/ency/article/000392trt.htm
Extractions: 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.
Extractions: This article has been cited by other articles: Uauy, R., Mize, C. E, Castillo-Duran, C. (2000). Fat intake during childhood: metabolic responses and effects on growth. Am. J. Clin. Nutr. [Abstract] [Full Text] Pitkanen, O.-P., Nuutila, P., Raitakari, O. T., Porkka, K., Iida, H., Nuotio, I., Ronnemaa, T., Viikari, J., Taskinen, M.-R., Ehnholm, C., Knuuti, J. (1999). Coronary Flow Reserve in Young Men With Familial Combined Hyperlipidemia. Circulation [Abstract] [Full Text] Grunwald, K. A. A., Schueler, K., Uelmen, P. J., Lipton, B. A., Kaiser, M., Buhman, K., Attie, A. D. (1999). Identification of a novel Arg'Cys mutation in the LDL receptor that contributes to spontaneous hypercholesterolemia in pigs. J. Lipid Res.
Familial Hypercholesterolemia familial hypercholesterolemia a rare dominant abnormality controlled by a multiplealleleseries of at least four alleles. familial hypercholesterolemia. http://www.webref.org/anthropology/f/familial_hypercholesterolemia.htm
Health Ency.: Disease: Familial Hypercholesterolemia familial hypercholesterolemia See images. this condition. The incidenceof familial hypercholesterolemia is 7 out of 1000 people. http://www.accessatlanta.com/shared/health/adam/ency/article/000392.html
Extractions: 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 Definition: A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in myocardial infarctions ( heart attacks ) at an early age. Causes and Risks Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, acute myocardial infarctions ( 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.
Advanced Search Using Statins in Children with familial hypercholesterolemia. Persons with homozygousfamilial hypercholesterolemia and secondary hyperlipidemia were excluded. http://www.aafp.org/afp/20030201/tips/26.html
Extractions: Tips from Other Journals Previous Next Children with heterozygous familial hypercholesterolemia (heFH) are at high risk for developing coronary heart disease. Currently the U.S. National Cholesterol Education Program recommends drug therapy (bile acid sequestrants) in children older than 10 years who have a low-density lipoprotein (LDL) cholesterol level that remains elevated after dietary therapy. De Jongh and associates conducted an international, multicenter, randomized, double-blind, placebo-controlled study of 173 patients to evaluate the efficacy of simvastatin in lowering LDL levels in a large cohort of boys and girls with heFH. The goal of the study was to investigate the safety and tolerability of simvastatin and its influence on growth and pubertal development. Girls and boys from 10 to 17 years of age who had LDL levels ranging from 158 to 398 mg per dL (4.1 to 10.3 mmol per L) and one parent with a confirmed diagnosis of heFH were included in the study. Persons with homozygous familial hypercholesterolemia and secondary hyperlipidemia were excluded. All subjects had diet therapy and placebo for four weeks before being randomized to treatment with placebo or simvastatin (starting with a daily dosage of 10 mg, which was increased to 20 mg and then to 40 mg). Cholesterol panels, liver function tests, adrenal/gonadal/pituitary hormones, Tanner stages, and menstrual cycles were assessed at regular intervals.
Avera Health - Familial Hypercholesterolemia familial hypercholesterolemia. Definition A condition. The incidence offamilial hypercholesterolemia is 7 out of 1000 people. Symptoms http://www.avera.org/adam/ency/article/000392.htm
Extractions: 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, acute myocardial infarctions ( 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.
FAMILIAL HYPERCHOLESTEROLEMIA familial hypercholesterolemia A relatively rare (7 out of 1,000) genetic diseasein which there is elevation in the blood triglycerides, cholesterol, and low http://www.medhelp.org/glossary2/new/GLS_2002.HTM
Familiar Hypercholesterolemia - West Virginia What is FH? FH or familial hypercholesterolemia is an inherited disorder which causescholesterol levels to be elevated. One in every 250500 people have FH. http://www.wvdhhr.org/bph/oehp/hp/cardio/fh.htm
Extractions: WV DHHR BPH OEHP ... HP What is FH? FH or Familial Hypercholesterolemia is an inherited disorder which causes cholesterol levels to be elevated. One in every 250-500 people have FH. People with this inherited disorder lack LDL (low density lipoproteins) receptors or molecules which can identify cholesterol. LDL receptors on the cell membrane take cholesterol into the cell and break it down, so that the HDL (high density lipoproteins) can carry the cholesterol to the liver to be excreted from the body People with FH have fewer receptors on their cell membranes and therefore have elevated cholesterol in their blood, because the cholesterol cannot get into the cell to be carried to the liver. Thus, fewer receptors lead to elevated cholesterol which causes plaque formation and coronary artery disease. The elevated cholesterol levels in the blood cause an increased risk of early death secondary to heart disease. For example, people with FH have an increased chance of having a heart attack at an extremely early age. Even without other risk factors such as obesity, men may have a heart attack when they are 40-55 years old and women may have a heart attack when they are 50-65 years old.
Familial Hypercholesterolemia familial hypercholesterolemia (FH) is a genetic disease that is related tothe common disease hypercholesterolemia. Unlike hypercholesterolemia http://alta1.middlebury.edu/chemistry/students/ho/fh.html
Extractions: Hypercholesterolemia FH Warning Cure ... Index Familial Hypercholesterolemia Familial Hypercholesterolemia (FH) is a genetic disease that is related to the common disease hypercholesterolemia. Unlike hypercholesterolemia, which is a non-genetic disease, patients suffering from familial hypercholesterolemia have a much more serious condition than those people who have high levels of cholesterol. These FH patients have a much higher chance of suffering from heart attacks and stroke. Hypercholesterolemia describes the people with high levels of cholesterol . In other words, the people who have too much cholesterol circulating in their bloodstream. It is the result of the overproduction and/or underutilization of Low-Density Lipoprotein (LDL). Hypercholesterolemia is a silent disease. No symptoms will occur until the resulting chest pain of a heart attack or the symptoms of a stoke. Familial Hypercholesterolemia is a genetic disease that causes a major problem. It is a very common disease in humans. There is a mutation in the genetic encoding for the LDL receptors (LDLR gene) that are located on the surface of the liver cells. The function of these receptors is to pick up the circulating plasma LDL to be processed in the liver's cholesterol management. As the result of the lack of activity, the LDL particles are not recycled and are circulating in the bloodstream, a condition of hypercholesterolemia. Because FH occurs from
[Lists Of Lectures] [Front Page] Mortality from familial hypercholesterolemia (FH). Free full text article is availableat bmj.com To begin the lecture, click the START button above. Objective. http://www.pitt.edu/~super1/lecture/lec3191/
Extractions: Lists of Lectures Front Page Mortality from Familial Hypercholesterolemia (FH) Free full text article is available at bmj.com To begin the lecture, click the START button above. Objective If you are the first time visitor, you might want to know [ How to navigate within and outside the lecture This is a beta version. Your comments to this version would be highly appreciated as well. Submit Your comments
