The molecular basis and treatment of familial hypercholesterolemia

  • 327 Pages
  • 4.90 MB
  • 8456 Downloads
  • English

Thesis Publishers , Amsterdam
Coronary heart disease -- Treatment, Hypercholestero
StatementJoep C. Defesche and Peter J. Lansberg.
ContributionsDefesche, Joep C., Lansberg, Peter J.
Classifications
LC ClassificationsRC632.H83 M65 1993
The Physical Object
Pagination327 p. :
ID Numbers
Open LibraryOL18722681M
ISBN 10905170190X

Talk Overview. While post-doctoral fellows at the NIH, Joe Goldstein and Michael Brown were presented with a young patient with familial hypercholesterolemia (FH), a disease characterized by high LDL cholesterol and atherosclerosis.

M.S. Brown, J.L. Goldstein, in Encyclopedia of Genetics, Familial hypercholesterolemia (FH) is a prevalent autosomal codominant disorder that causes elevated blood cholesterol levels and premature heart attacks.

The disease is caused by mutations in the gene encoding the low density lipoprotein (LDL) receptor, which removes LDL, the major cholesterol-carrying protein.

Familial hypercholesterolaemia (FH) is an autosomal-dominant disorder associated with mutations in the LDL receptor (LDLR) gene resulting in markedly elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and premature atherosclerotic cardiovascular disease (ASCVD).Cited by: 2.

Description The molecular basis and treatment of familial hypercholesterolemia EPUB

Introduction. Familial Hypercholesterolemia (FH) is an autosomal dominant condition that leads to extreme elevations in low density lipoprotein cholesterol (LDL-C). 1 It can remain undiagnosed until a catastrophic cardiovascular (CV) event. Thus, without early detection, many patients will remain undertreated and have missed opportunities for CV prevention.

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Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations. Salazar LA(1), Hirata MH, Cavalli SA, Nakandakare ER, Forti N, Diament J, Giannini SD, Bertolami MC, Hirata by: Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of lipoprotein metabolism.

In the majority of patients FH is caused by mutations in the gene for the low-density lipoprotein receptor (LDLR), and to date more than mutations have been reported by:   Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a multitude of low-density lipoprotein (LDL) receptor gene mutations.

The LDL receptor is a cell surface trans-membrane protein that mediates the uptake & lysosomal degradation of plasma LDI., thereby providing cholesterol to cells.

Affected individuals have elevated plasma levels of Cited by: 7. Inthey discovered that the molecular defect underlying FH (autosomal dominant hypercholesterolaemia—ADH) is a functional mutation The molecular basis and treatment of familial hypercholesterolemia book the gene that encodes for the LDLR.

23 These ‘Nobel Prize’ findings provided the foundation for current treatment and prevention practices to lower LDL-C by: Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes.

This will lead to elevated levels of total and low-density. Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular the underlying body biochemistry is slightly different in individuals with FH, their high cholesterol levels are less responsive to the kinds of cholesterol Specialty: Endocrinology.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark Article Literature Review in Danish medical bulletin 49(4) November with 52 Reads. Familial hypercholesterolaemia (FH), defined as the heritable occurrence of severe hypercholesterolaemia with cholesterol deposits in tendons and premature heart disease, is caused by at least four genes in sterol and lipoprotein.

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in – for heterozygotes in North America and Europe.

Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 by:   Importance Familial hypercholesterolemia is characterized by impaired uptake of cholesterol in peripheral tissues, including the liver and the pancreas. In contrast, statins increase the cellular cholesterol uptake and are associated with increased risk for type 2 diabetes mellitus.

We hypothesize that transmembrane cholesterol transport is linked to the development of type Cited by:   Familial hypercholesterolaemia (FH) is the genetic disorder most commonly associated with elevated LDL cholesterol (LDL-C) levels from birth and with premature atherosclerotic cardiovascular disease (ASCVD).

1 It is caused by mutations in genes related to the clearance of LDLs such as LDL receptor (LDLR), apolipoprotein B (APOB) and Cited by: 3. Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular disease and is often undiagnosed in young people.

Although the disease is diagnosed clinically by high LDL cholesterol levels and family history, to date there are no single internationally accepted criteria for the diagnosis of FH.

Several genes have been shown to be. A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been. Without treatment, men with homozygous familial hypercholesterolemia can get heart disease in their 40s, and women can get it in their 50s.

There's Author: Stephanie Watson. The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations Isabel De Castro-Orós1, Miguel Pocoví2, Fernando Civeira11Lipid Unit and Laboratorio de Investigación Molecular, Hospital Universitario Miguel Servet, Instituto Aragonés de Ciencias de la Salud (I+CS), Zaragoza, Spain; 2Departamento.

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

Hum. Mutat. 30, E–E ().Cited by: Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease.

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FH often remains undiagnosed and untreated, leading to early heart attacks and heart disease. The genetic changes seen in FH affect how cholesterol is cleared from the body and leads to high amounts of low density lipoprotein (LDL), also referred to as bad cholesterol. INTRODUCTION. Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease.

The clinical syndrome (phenotype) is characterized by extremely elevated levels of low density lipoprotein cholesterol (LDL-C) and a propensity to early onset atherosclerotic cardiovascular disease.

Stanford Cardiovascular Institute's Frontiers in Cardiovascular Science seminar series "Familial Hypercholesterolemia: Clinical, Molecular and Genetic Aspects" David Maron, MD Clinical Professor.

Hypercholesterolemia is a pathological condition which has been reported in 39% of the worlds’ adult population. We aimed to review molecular aspects of current and novel therapeutic approaches based on low-density lipoprotein cholesterol lowering by: 4.

If you have heterozygous familial hypercholesterolemia (HeFH), you'll need to make some long-term changes to manage the disease. Medicines, the right diet, and exercise will help bring your.

October| Dallas, TX The FH Foundation’s FH Global Summit took place a stone’s throw away from the Brown/Goldstein Lab, where the LDL receptor was discovered. In attendance were a group of over committed physicians, scientists, patients and other key stakeholders, all gathered to discuss the most pressing issues facing the global FH.

Easy to read, yet comprehensive, this is the perfect introduction into the molecular basis of disease and the novel treatment options that have become available. The authors, Jens Kurreck and Cy Stein, have both long-standing teaching experience on the subject, one from a biologists angle, the other with a medical background.

Together, they have produced a modern textbook. Familial hypercholesterolemia predisposes a person to premature arteriosclerosis, including coronary artery disease, and can lead to heart attacks at an unusually young age. Treatment involves dietary modifications and the use of cholesterol -lowering medications.

Goldstein JLHobbs HHBrown MS Familial hypercholesterolemia. Scriver CRBeaudet ALSly WSValle Deds. The Metabolic and Molecular Basis of Inherited Disease 6th ed. New York, NY McGraw-Hill Book Co; Google ScholarCited by:   Classic familial hypercholesterolemia, FH (type 2a hyperlipidemia) is an autosomal dominant disorder that results from mutations affecting the structure and function of the cell-surface receptor that binds plasma LDL (low density.

Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes severe elevations in total cholesterol and low-density lipoprotein cholesterol (LDLc).

Xanthomas are noted commonly on the Achilles tendons and metacarpal phalangeal extensor tendons of the hands of patients with untreated FH.screening, diagnosis and treatment of FH in pediatric and adult patients developed by the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

This report goes beyond previously published guidelines by providing specific clinical guidance for the primary care clinician and lipid spe.There are treatments available for heterozygous and homozygous FH, and more are in development.

For many people with heterozygous FH, treatment can be relatively straightforward: a heart healthy diet, regular exercise and one or two prescription medications.

However, in other cases, treating familial hypercholesterolemia can be challenging.