Familial Hypercholesterolemia Questions & Answers

Updated: Feb 28, 2020
  • Author: Mose July, MD, CCD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
  • Print
Questions & Answers

Overview

What is familial hypercholesterolemia (FH)?

What are the signs and symptoms of homozygous familial hypercholesterolemia (FH)?

What are the signs and symptoms of heterozygous familial hypercholesterolemia (FH) in children?

What are the signs and symptoms of heterozygous familial hypercholesterolemia (FH) in adults?

How is familial hypercholesterolemia (FH) diagnosed?

Which findings on lipid analysis are characteristic of familial hypercholesterolemia (FH)?

What are the European Atherosclerosis Society (EAS) guidelines for heterozygous familial hypercholesterolemia (FH) screening?

What are the CHD risk categories for patients with familial hypercholesterolemia (FH)?

How is homozygous familial hypercholesterolemia (FH) treated?

How is heterozygous familial hypercholesterolemia (FH) treated?

What are the European Atherosclerosis Society (EAS) recommendations for treatment of heterozygous familial hypercholesterolemia (FH)?

What is familial hypercholesterolemia (FH)?

What is the pathophysiology of familial hypercholesterolemia (FH)?

What are the classes of genetic mutations in familial hypercholesterolemia (FH)?

What is the prevalence of familial hypercholesterolemia (FH) in the US?

What is the global prevalence of familial hypercholesterolemia (FH) internationally?

What is the mortality and morbidity associated with homozygous familial hypercholesterolemia (FH)?

What is the mortality and morbidity associated with heterozygous familial hypercholesterolemia (FH)?

What are the racial predilections in the prevalence of familial hypercholesterolemia (FH)?

What are the sexual predilections of familial hypercholesterolemia (FH)?

What are the risks of undiagnosed familial hypercholesterolemia (FH)?

Presentation

What are the signs and symptoms of homozygous familial hypercholesterolemia (FH)?

What are the signs and symptoms of heterozygous familial hypercholesterolemia (FH)?

Which clinical history findings are characteristic of homozygous familial hypercholesterolemia (FH) in adults?

Which clinical history findings are characteristic of heterozygous familial hypercholesterolemia (FH) in adults?

Which physical findings are characteristic of familial hypercholesterolemia (FH)?

Which physical findings are characteristic of homozygous familial hypercholesterolemia (FH)?

Which physical findings are characteristic of heterozygous familial hypercholesterolemia (FH)?

What causes familial hypercholesterolemia (FH)?

What is the role of familial ligand defective apoB-100 in the etiology of familial hypercholesterolemia (FH)?

What is the role of autosomal recessive hypercholesterolemia in the etiology of familial hypercholesterolemia (FH)?

DDX

What are the differential diagnoses for Familial Hypercholesterolemia?

Workup

How is familial hypercholesterolemia (FH) diagnosed?

What is the role of lipid analysis in the diagnosis of familial hypercholesterolemia (FH)?

Which tests are performed to rule out secondary hypercholesterolemia in patients with familial hypercholesterolemia (FH)?

What is the role of imaging studies in the workup of familial hypercholesterolemia (FH)?

What is the role of lipoprotein electrophoresis in the diagnosis of familial hypercholesterolemia (FH)?

What is the role of LDL receptor analysis in the diagnosis of familial hypercholesterolemia (FH)?

What is the role of biopsy in the diagnosis of familial hypercholesterolemia (FH)?

Treatment

What guidelines exist for the medical care of patients with familial hypercholesterolemia (FH)?

What are risk categories for coronary heart disease (CHD) in familial hypercholesterolemia (FH)?

What is the role of CHD risk in determining the treatment of familial hypercholesterolemia (FH)?

What are risk factors for coronary heart disease (CHD) in familial hypercholesterolemia (FH)?

How is the risk for developing CHD determined in patients with familial hypercholesterolemia (FH)?

Which patients have an optional low-density lipoprotein cholesterol (LDLc) goal of less than 70 mg/dL for the treatment of familial hypercholesterolemia (FH)?

How is familial hypercholesterolemia (FH) treated in patients with a moderately high risk of CHD?

How is familial hypercholesterolemia (FH) treated in patients with a moderate risk of CHD?

Which patients with familial hypercholesterolemia (FH) are at low risk for CHD?

What is the highest category of CHD risk in patients with familial hypercholesterolemia (FH)?

Which patients with familial hypercholesterolemia (FH) are at a very high risk for CHD?

What are the EAS treatment guidelines for homozygous familial hypercholesterolemia (FH)?

How is homozygous familial hypercholesterolemia (FH) treated?

How is homozygous familial hypercholesterolemia (FH) treated when the low-density lipoprotein (LDL) receptors are absent or nonfunctional?

What is the role of portacaval anastomosis in the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of evolocumab in the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of lomitapide in the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of mipomersen in the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of probucol in the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of gene therapy to the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of lifestyle modifications in the treatment of heterozygous familial hypercholesterolemia (FH)?

What are the EAS treatment guidelines for heterozygous familial hypercholesterolemia (FH)?

How is heterozygous familial hypercholesterolemia (FH) treated?

What is the role of alirocumab in the treatment of heterozygous familial hypercholesterolemia (FH)?

What is the role of evolocumab (Repatha) in the treatment of heterozygous familial hypercholesterolemia (FH)?

What is the role of rosuvastatin in the treatment of pediatric heterozygous familial hypercholesterolemia (FH)?

What is the role of fibrates in the treatment of heterozygous familial hypercholesterolemia (FH)?

What is the role of estrogen replacement in the treatment of heterozygous familial hypercholesterolemia (FH)?

What is the role of LDL apheresis in the treatment of heterozygous familial hypercholesterolemia (FH)?

What is the role of liver transplantation in the treatment of homozygous familial hypercholesterolemia (FH)?

What is the role of portacaval anastomosis in the treatment of homozygous familial hypercholesterolemia (FH)?

Which specialist consultations are beneficial for patients with homozygous familial hypercholesterolemia (FH)?

Which specialist consultations are beneficial for patients with heterozygous familial hypercholesterolemia (FH)?

Which dietary modifications are used in the treatment of familial hypercholesterolemia (FH)?

Which activity modifications are used in the treatment of familial hypercholesterolemia (FH)?

Guidelines

What are the Japan Pediatric Society and the Japan Atherosclerosis Society guidelines for the diagnosis and management of pediatric familial hypercholesterolemia (FH)?

Medications

Which medications are used in the treatment of familial hypercholesterolemia (FH)?

What are the FDA approved statin doses for the treatment of familial hypercholesterolemia (FH)?

Which medications in the drug class Lipid-Lowering Agents, 2-Azetidinones are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class Lipid-Lowering Agents, Other are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class Bile acid sequestrants (resins) are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class Vitamins are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class HMG-CoA reductase inhibitors (statins) are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class Combination Products are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class Lipid-Lowering Agents, ACL Inhibitors are used in the treatment of Familial Hypercholesterolemia?

Which medications in the drug class PCSK9 Inhibitors are used in the treatment of Familial Hypercholesterolemia?

Follow-up

How is familial hypercholesterolemia (FH) prevented?

What are complications of familial hypercholesterolemia (FH)?

What is the prognosis of familial hypercholesterolemia (FH)?

What is included in patient education about familial hypercholesterolemia (FH)?