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Severe Hypercholesterolemia Phenotype
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Authors: Genovefa Kolovou (Director, Cardiology Department, Lipid Disorders Clinic, Onassis Cardiac Surgery Center, Athens, Greece) 
Book Description:
This book raises very important issues that concern the severe hypercholesterolemia phenotype. The severe hypercholesterolemia phenotype such as familial hypercholesterolemia (FH) is characterised by increased plasma low density lipoprotein (LDL) cholesterol concentration above 190 mg/dl, regardless of the cause. The majority of patients with FH present mutations in genes controlling LDL concentration, such as genes caused by abnormalities in the LDL receptor protein function and clearance of the LDL particle. The most frequent mutations causing FH are observed in LDLR, ApoB and PCSK9 genes. However, a polygenic origin is also probable in several of FH cases. The marked elevation of plasma LDL cholesterol concentration leads to premature and severe cardiovascular disease, including death, regardless of the gene mutation. Particularly, in individuals with a homozygous form of FH (two identical mutations or compound heterozygotes). Thus, early diagnosis and treatment of FH is vital, since the risk of premature coronary heart disease is estimated to be approximately 20-fold higher in untreated FH patients compared with control subjects. On the contrary, the aggressive lowering of plasma LDL cholesterol concentration decreased the cardiovascular events. A hypolipidemic diet and lipid lowering drugs are the first steps in the treatment of FH patients. The most severe and resistant FH cases are treated with LDL apheresis on top of combined drug therapy. Consequently, the combination of classical hypolipidemic drugs and newly introduced medications, such as PCSK9 inhibitors, antisense oligonucleotide against APOB-100 (mipomersen) and microsomal triglyceride transfer protein inhibitors (lomitapide) provide a way for most FH patients to achieve LDL cholesterol treatment goals. (Nova Medicine and Health)

Table of Contents:


Chapter 1. Pathophysiology of Familial Hypercholesterolemia

Chapter 2. Diagnostic Criteria for Familial Hypercholesterolemia

Chapter 3. Clinical Presentation of Familial Hyprcholesterolemia Caused by Mutations in LDLR Genes

Chapter 4. Mutations Other Than LDLR Caused Hypercholesterolemia Phenotype

Chapter 5. Hypercholesterolemia in Children and Adolescents

Chapter 6. Management of Familial Hypercholesterolemia

Chapter 7. Guidelines/Consensus Statements for Identification and Management of Familial Hypercholesterolemia in Children and Adults


      Metabolic Diseases - Laboratory and Clinical Research
   Binding: Hardcover
   Pub. Date: 2018 - December
   ISBN: 978-1-53614-497-0
   Status: AN
Status Code Description
AN Announcing
FM Formatting
PP Page Proofs
FP Final Production
EP Editorial Production
PR At Prepress
AP At Press
AV Available
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Severe Hypercholesterolemia Phenotype