What gene is hypercholesterolemia located on?

Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor.

What part of the cell is affected by familial hypercholesterolemia?

Familial Hypercholesterolemia (FH) (MIM #143890) is a genetic disease characterized by elevated LDL-Cholesterol (LDL-C), which deposits in the tissues causing the external manifestations of the disease, namely tendinous xanthomas, xanthelasmas, and corneal arcus.

Where does familial hypercholesterolemia come from?

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood.

How is familial hypercholesterolemia detected?

Familial hypercholesterolemia (FH) can be diagnosed both clinically and genetically. FH is usually diagnosed clinically with a lipid test that measures the amount of LDL cholesterol (LDL-C) in the blood, a physical exam, and a family history.

What is the genotype of familial hypercholesterolemia?

The proband’s genotype was confirmed to be compound heterozygous FH, leading to clinical manifestations in line with the homozygous FH phenotype. The phenotype is highly associated with the genotype in this type of compound heterozygous FH.

What type of genetic disorder is familial hypercholesterolemia?

Familial Hypercholesterolemia is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his or her children to inherit it. The abnormal gene is dominant, so even if the child receives a healthy gene from the second parent, the altered gene will override the healthy one.

How many genes loci are associated with familial hypercholesterolemia FH )?

The diagnosis of FH can also be established by identification of a heterozygous pathogenic variant in one of the three genes (APOB, LDLR, and PCSK9) known to be associated with FH.

What is phenotype of familial hypercholesterolemia?

FH is classified as two simplified phenotypes of disease according to the severity of the metabolic derangement. The dominantly inherited heterozygous phenotype comprises defects in the LDL receptor, apoB100, and neural apoptosis regulatory cleavage protein.

Is familial hypercholesterolemia more common in certain populations?

Worldwide, 1 in every 200-500 people has FH. Certain populations display a higher prevalence of FH, such as the French Canadian, Ashkenazi Jew, Lebanese, and South African Afrikaner populations. In these populations, 1 in every 67 people are found to have FH.

What is the FH gene?

The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy.

How is familial hypercholesterolemia inherited?

Familial hypercholesterolemia is inherited in families in an autosomal dominant manner. In autosomal dominant inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children.

Where is the gene that causes familial hypercholesterolemia located?

The altered gene (gene mutation) that causes familial hypercholesterolemia is located on chromosome number 19. It contains the information for a protein called LDL receptor that is responsible to clear up LDL from the blood stream.

Do you need genetic testing for familial hypercholesterolemia?

Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes ( LDLR, APOB, and PCSK9) known to cause FH. If your doctor suspects that you have FH or a family member has been diagnosed with FH, your doctor may refer you for genetic counseling and testing for FH.

Is the Nord physician guide for familial hypercholesterolemia free?

The NORD Physician Guide for Familial hypercholesterolemia was developed as a free service of the National Organization for Rare Disorders (NORD) and it’s medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

What happens if you have familial hypercholesterolemia ( FH )?

Familial hypercholesterolemia can be inherited from one parent (heterozygous FH), or, in rare instances, from both (homozygous FH). People with this rarer form of FH can have very high LDL cholesterol levels. Many may need bypass surgeries before adulthood. Without treatment, people with homozygous FH rarely live into their 20s.