What Is Heterozygous Familial Hypercholesterolemia (HeFH)?
A type of genetic condition called FH causes high levels of low-density lipoprotein or “bad” cholesterol.
While some regard it as a rare disease, FH is actually quite common. It affects about
Still, FH is underdiagnosed. The American Heart Association (AHA) estimates that only
Doctors classify FH as either heterozygous (HeFH) or homozygous (HoFH). HeFH is less severe but much more common. This article will detail the HeFH subtype, including possible causes, symptoms, treatment, and more.
HeFH is an inherited disorder that involves a single DNA variant you get from one of your parents. The development of FH involves mutations in the LDL receptor, apolipoprotein B, or PCSK9 genes.
Multiple related genes can be had. This is a compound.
FH affects your body’s ability to recycle LDL cholesterol, leading it to build up in your blood. With FH, it’s possible to have an LDL cholesterol level of
Heterozygous vs. homozygous familial hypercholesterolemia
HeFH refers to familial hypercholesterolemia that’s inherited from one parent only. Most cases of FH are the HeFH subtype.
On the other hand, you inherit HoFH from both parents. HoFH
People often use FH and HeFH interchangeably when discussing symptoms, testing, and treatment. They will often differentiate the more serious HoFH.
HeFH can cause symptoms. Unless you test for it, it can go undetected.
However, some people with FH may develop cholesterol deposits around the body called xanthomas. These may be visible in the tendons of hands and elbows or around your eyes.
Developing these deposits before age 45 may be a sign of HeFH. Developing them in childhood could be a sign of HoFH.
If you have undiagnosed and untreated HeFH, you may experience related heart symptoms as an adult. These include chest discomfort and pain due to by plaque buildup in your arteries (Attitudes.).
People with HoFH may experience cardiovascular symptoms as early as childhood.
One downside to HeFH is that you may not know you have it until you have problems. It is important to know your family health history and discuss cholesterol issues with a doctor.
A doctor will likely recommend the tests.
- A physical exam is done.
- cholesterol screenings with blood testing
- scoring systems, such as the Simon Broome or the Dutch Lipid Clinic Network, which use a combination of family history, A physical exam is done., and LDL cholesterol readings
- blood tests to rule out other health conditions that may affect your LDL levels, such as hypothyroidism or kidney disease
An LDL cholesterol reading in HeFH may be above 190 mg/dL. This is already considered a “very high level” and far above the optimal level of 100 mg/dL or less. In HoFH, typical LDL levels are even higher, reaching above 400 mg/dL.
As a rule of thumb, anyone with a known case of FH in their family should receive genetic testing for this condition. The
It’s also important to note that 20% to 30% of FH testing may be negative despite meeting other diagnostic criteria. This may be due to technical glitches or other issues with the test. It’s still possible to receive a positive result at a later time.
If you have children and you’ve previously received an HeFH diagnosis, a pediatrician may recommend genetic testing for them, along with regular cholesterol screenings starting at
Did you know…
2015 research, one baby is born with familial hypercholesterolemia (HF) every minute.
While HeFH is a hereditary condition, it’s still treatable in the same way you can manage high cholesterol. Treating FH also
While experts recommend diet and exercise for your overall health, these measures won’t help treat HeFH like they help manage high cholesterol that does not have a genetic component.
To reduce the risk of The heart disease is very serious., a doctor may recommend starting cholesterol-lowering medications as young as
It may take more time to remove LDL than just medication can provide. This involves removing LDL from your blood before it accumulates. You must repeat LDL apheresis every few weeks.
If genetic testing reveals a PCSK9 mutation, you may receive injectable PCSK9 inhibitors to help your liver remove LDL cholesterol more effectively.
HeFH is treatable with cholesterol-lowering medications. The earlier you receive a diagnosis and treatment, the better your outlook. The overall outlook for HeFH is more favorable compared with HoFH, the latter of which
Young people with untreated HeFH have a
HeFH can still lead to serious health concerns if left unaddressed. These may include:
When HeFH is left untreated, the risk of developing a fatal A heart attack. is 30% in women by age 60 and 50% in men by age 50.
HeFH is a type of hypercholesterolemia that causes high levels of cholesterol.
HeFH still requires treatment to help prevent it from developing into a more serious problem later in life.
If you have a family history of FH or a personal or family history of high LDL levels or early A heart attack., it’s worth talking with a doctor about the possibility of HeFH. They can help you access the appropriate testing and treatments.