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Topic: Familial hypercholesterolemia

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Hypercholesterolemia

Hyperlipoproteinemia type II

High density lipoprotein

Homozygous

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	eMedicine - Hypercholesterolemia, Familial : Article by Elena Citkowitz
		Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes severe elevations in total cholesterol and low-density lipoprotein cholesterol (LDLc).
		Their family history should be positive for severe hypercholesterolemia and premature CAD in both parental family lines.
		The NCEP recommendations for the dietary management of hypercholesterolemia are not highly restrictive, but a more stringent regimen may have a greater impact on lipid levels (see Table 2).
	www.emedicine.com /med/topic1072.htm (7148 words)

	Discovery Health :: Diseases & Conditions :: familial hypercholesterolemia
		Familial hypercholesterolemia is an inherited disease that causes high cholesterol levels.
		A person with familial hypercholesterolemia inherits an abnormal gene for the docking site from one or both parents.
		Genetic counseling may be useful to couples with a family history of the disease.
	www.health.discovery.com /encyclopedias/illnesses.html?article=27 (362 words)

	Lifespan's A - Z Health Information Library - Familial hypercholesterolemia
		The outcome is likely to be poor in people with the homozygote type of familial hypercholesterolemia because it causes early heart attacks and is resistant to treatment.
		The outcome of other types of familial hypercholesterolemia depends in part on the patient's compliance with treatment, but reduction in serum cholesterol levels can be achieved and may be significant in delaying a heart attack.
		In families with a history of familial hypercholesterolemia, genetic counseling is of benefit, especially if both parents are affected.
	www.lifespan.org /adam/healthillustratedencyclopedia/1/000392.html (829 words)

	Genes at Work - Topics in Genetics
		Familial hypercholesterolemia (FH) or hyperlipoproteinemia type IIA affects 1 in 500 individuals and accounts for a great deal of cardiac morbidity and mortality each year in the US.
		Familial combined hyperlipidemia is probably the most common disorder of lipid metabolism and may be seen in as many as 1% of the population.
		Familial hypercholesterolemia type B is associated with a defect in LDL binding secondary to mutations in the apolipoprotein B gene.
	www.umdnj.edu /genesatwork/topics/adult_medicine/10_adult.htm (687 words)

	Familial hypercholesterolemia definition - Cholesterol information produced by doctors for patients experiencing high ...
		Familial hypercholesterolemia: The most common inherited type of hyperlipidemia (high lipid levels in blood).
		Persons with familial hypercholesterolemia can reduce their risk by adhering to a very low cholesterol diet under a doctor's supervision, and may also need to take medications such as the statins that reduce their cholesterol level.
		Familial hypercholesterolemia is usually due to a genetic defect in the receptor for LDL (low density lipoprotein).
	www.medterms.com /script/main/art.asp?articlekey=3382 (368 words)

	Athena Diagnostics
		Hypercholesterolemia, which affects about 18% of the US population (1), is known to increase the risk for coronary heart disease (CHD).
		Both LDLR-related Familial Hypercholesterolemia (FH) and APOB-related Familial Defective Apolipoprotein B-100 (FDB) are dominantly inherited conditions associated with premature CHD and myocardial infarction (6, 7).
		While hypercholesterolemia may be present from birth, symptoms of CHD appear on average at age 45 in men and at age 55 in women.
	www.athenadiagnostics.com /site/content/DR/H.asp (1388 words)

	MedlinePlus Medical Encyclopedia: Familial hypercholesterolemia
		The outcome is likely to be poor in people with the homozygote type of familial hypercholesterolemia because it causes early heart attacks and is resistant to treatment.
		The outcome of other types of familial hypercholesterolemia depends in part on the patient's compliance with treatment, but reduction in serum cholesterol levels can be achieved and may be significant in delaying a heart attack.
		Families with a history of familial hypercholesterolemia may benefit from counseling, especially if both parents are affected.
	www.nlm.nih.gov /medlineplus/ency/article/000392.htm (873 words)

	Le Magazine, July 2006 - Ask The Doctor: Familial Hypercholesterolemia New Horizons For Treatment
		A: Familial hypercholesterolemia (FHC) is a common, inherited disorder characterized by elevated levels of total cholesterol and LDL.
		This means that hypercholesterolemia, whether it occurs in young age or adult life, is not itself the cause of the coronary heart disease, but rather a symptom of an imbalance in the body that is causing the problem.
		Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin.
	www.lef.org /magazine/mag2006/jul2006_atd_01.htm (2519 words)

	Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review -- Austin et al. 160 ...
		Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
		Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.
		Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
	aje.oxfordjournals.org /cgi/content/full/160/5/407 (6976 words)

	Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review -- Austin et al. 160 (5): 421 -- ...
		Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
		The prevalence of peripheral vascular disease in familial hypercholesterolaemia.
		Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
	aje.oxfordjournals.org /cgi/content/full/160/5/421 (6152 words)

	Lovastatin in Adolescents with Familial Hypercholesterolemia American Family Physician - Find Articles
		Bile-acid sequestrants, which have a relatively long history of use in children with familial hypercholesterolemia, are generally the drugs of choice, but these agents do not have a major effect on LDL levels.
		All of the subjects had a family history of one parent with similarly elevated LDL levels or of a parent who died as a result of coronary artery disease.
		That said, the editorial emphasizes that hereditary familial hypercholesterolemia is easily diagnosed and should be treated as aggressively as possible in adolescent boys.
	www.findarticles.com /p/articles/mi_m3225/is_10_59/ai_54594200 (635 words)

	SparkNotes: Lipids and Coronary Heart Disease: Familial Hypercholesterolemia
		Homozygous familial hypercholesterolemia occurs at a rate of less than 1 in 1,000,000.
		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.
		Treatment of familial hyperlipidemia should include aggressive attempts to lower cholesterol, including strict dietary modifications, escalating doses of potent lipid-lowering medications, LDL apheresis, and consideration of liver transplantation.
	www.sparknotes.com /health/lipids/section6.rhtml (250 words)

	Healthopedia.com - Familial Hypercholesterolemia (Type IIa Hyperlipoproteinemia)
		Familial hypercholesterolemia is an inherited disease that causes high cholesterol levels.
		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.
	www.healthopedia.com /familial-hypercholesterolemia (280 words)

	Clinical Study: 85-H-0105, Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia (Site not responding. Last check: 2007-10-26)
		Homozygous familial hypercholesterolemia is a rare inherited disease of metabolism.
		Researchers plan to evaluate patients with homozygous familial hypercholesterolemia using new and standard methods for detecting atherosclerosis.
		Family history of hypercholesterolemia and/or cardiovascular disease before the age of 60 years.
	clinicalstudies.info.nih.gov /detail/A_85-H-0105.html (323 words)

	Familial hypercholesterolemia in childhood: therapeutical options Pediatrics for Parents - Find Articles
		In familial hypercholesterolemia, the balance between the cholesterol we need for our body and the cholesterol that is cleared from the bloodstream is disturbed.
		Familial hypercholesterolemia (FH) is one of the most common inherited metabolic diseases.
		The diagnosis of FH is based on a patient's family history, physical examination, laboratory findings and DNA analysis.
	www.findarticles.com /p/articles/mi_m0816/is_7_21/ai_n13246890 (878 words)

	Using Statins in Children with Familial Hypercholesterolemia - February 1, 2003 - American Family Physician
		Children with heterozygous familial hypercholesterolemia (heFH) are at high risk for developing coronary heart disease.
		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.
	www.aafp.org /afp/20030201/tips/26.html (494 words)

	Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia -- Francis et al. 172 (4): 495 -- Canadian ...
		Familial hypercholesterolemia (FH) is characterized by the accumulation
		The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
		Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
	www.cmaj.ca /cgi/content/full/172/4/495 (1325 words)

	Essays.cc - Familial Hypercholeterolemia
		Familial Hypercholesterolemia Familial Hypercholesterolemia, a very dangerous and deadly genetic disease, has the potential to be passed via the parent’s DNA from one generation to the next.
		Familial Hypercholesterolemia (FH) operates by not allowing cholesterol to move into the cells via the blood stream.
		People who suffer from Familial Hypercholesterolemia should serve as a lesson to those who feel that eating high levels of cholesterol will not effect their body (Familial, 1999).
	www.essays.cc /free_essays/f4/jai227.shtml (1153 words)

	Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease -- Yuan et al. 174 ...
		Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease -- Yuan et al.
		Heterozygous familial hypercholesterolemia: relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women.
		The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.
	www.cmaj.ca /cgi/content/full/174/8/1124 (3912 words)

	Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated ...
		Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
		Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.
		Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians.
	www.clinchem.org /cgi/content/full/47/3/438 (2825 words)

	Hypercholesterolemia definition - Cholesterol information produced by doctors for patients experiencing high ...
		Persons with familial hypercholesterolemia can reduce their risk by adhering to a very low cholesterol diet under a doctor's supervision, and may also need to take medications that reduce their cholesterol level.
		Children and other relatives at risk for familial hypercholesterolemia can be screened (checked) for the condition.
		Familial hypercholesterolemia is due to a genetic defect in the receptor (the dock on the surface of cells) for LDL (low density lipoprotein).
	www.medterms.com /script/main/art.asp?articlekey=3835 (234 words)

	Familiar Hypercholesterolemia - West Virginia
		FH or Familial Hypercholesterolemia is an inherited disorder which causes cholesterol levels to be elevated.
		Since this condition is an autosomal (genetically) dominant disorder anyone with a family history of severely elevated cholesterol or heart disease should be tested and all immediate relatives of people with FH should be tested.
		Your family medical history of heart disease is important, because it helps to determine whether or not you may have FH.
	www.wvdhhr.org /bph/oehp/hp/cardio/fh.htm (595 words)

	Familial hypercholesterolemia probed - MIT News Office
		Familial hypercholesterolemia (FH), a genetic disease characterized by high levels of cholesterol and early mortality, is caused by defects in the receptor for the low-density lipoprotein (LDL)--the "bad" cholesterol.
		This in turn impedes the receptor's ability to bind bad cholesterol and remove it from the bloodstream, causing the hypercholesterolemia.
		FH is an autosomal dominant trait, meaning that a child born to an affected parent has a 50 percent chance of inheriting the gene.
	web.mit.edu /newsoffice/1996/hypercholesterolemia-0911.html (582 words)

	Familial Hypercholesterolemia - High Cholesterol
		Familial Hypercholesterolemia (FH) is an inherited disorder that causes very high cholesterol levels and greatly increases the chance of having a heart attack early in life.
		You are either born with FH or not.
		Cholesterol levels can be checked at birth, but the National Cholesterol Education Program (NCEP) guidelines suggest children in a FH family be checked at age two.
	www.medped.org /MEDPED-What-is-FH.html (351 words)

	Family History and Cardiovascular Risk in Familial Hypercholesterolemia: Data in More Than 1000 Children -- Wiegman et ...
		Cholesterol and carotid artery wall in children and adolescents with familial hypercholesterolemia: a controlled study by ultrasound.
		Familial hypercholesterolaemia (one form of type II hyperlipoproteinaemia): a study of its biochemical, genetic and clinical presentation in childhood.
		In vivo metabolism of apolipoprotein AI in a patient with homozygous familial hypercholesterolemia.
	circ.ahajournals.org /cgi/content/full/107/11/1473 (3331 words)

	Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia -- ...
		FH-1, the index patient in family 1; FH-2, the index patient in family 2; FH-hmz-E387K, patient known to be homozygous for the E387K mutation in the LDL receptor gene.
		Soutar, A.K., Knight, B.L., and Patel, D.D. Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
		Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.
	www.jci.org /cgi/content/full/104/5/619 (6800 words)

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