What is heterozygous familial hypercholesterolemia HeFH?

Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disease characterized by markedly elevated plasma concentrations of low-density lipoprotein (LDL) cholesterol (LDL-C), typically well above the 95th percentile for age and sex.

What is the difference between HeFH and HoFH?

Homozygous FH is characterized by extremely high levels of LDL cholesterol and symptoms can be seen in childhood. Homozygous FH is much more difficult to treat adequately and people with homozygous FH can suffer from cardiac events even before the teen years. People with FH have elevated cholesterol from birth.

How common is HeFH?

The prevalence of HeFH has been estimated to be about 1:500, and 1:1 million for HoFH making it the most common monogenic disorder encountered in clinical practice.

Is heterozygous familial hypercholesterolemia rare?

HoFH is very rare (~ 1 in 250,000). LDL-C levels are usually, though not always, > 400 mg/dl. Severe vascular disease including CAD and aortic stenosis are often seen by the teenage years. Without very aggressive treatment including LDL-C apheresis and HoFH specific medications, mortality is common before age 30.

How is HeFH diagnosed?

Blood tests. If your doctor thinks you have HeFH, they’ll do a blood test to check your cholesterol level. With HeFH, your: Total cholesterol level will be over 300 mg/dL. LDL cholesterol level will be over 200 mg/dL.

How is heterozygous familial hypercholesterolemia diagnosed?

Diagnosis of FH may be confirmed with positive pathogenic genetic testing,25 but cannot be excluded in the absence of a causative mutation. Genetic diagnosis of FH may involve testing for either known pathogenic variants in the genes for LDL‐R, ApoB, and PCSK9 or whole‐gene sequencing.

What does it mean if you have heterozygous?

Heterozygous is a state of having inherited different forms of a particular gene from each one of your biological parents. Now, by different forms we generally mean that there are different portions of the gene where the sequence is different.

How do you test for heterozygous familial hypercholesterolemia?

A diagnosis of familial hypercholesterolemia (FH) is usually based on:

  1. A simple blood test to measure the amount of cholesterol in your blood.
  2. A thorough family history.
  3. A physical exam, to look for any physical signs, including cholesterol deposits or bumps under the skin or around the eyes.

What are the symptoms of heterozygous?

in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations.