What is Homozygous Familial Hypercholesterolemia (HoFH)?

What is HoFH?

There are two forms of Familial Hypercholesterolemia (FH):

  • Heterozygous Familial Hypercholesterolemia (HeFH) and
  • Homozygous Familial Hypercholesterolemia (HoFH).

The most serious and more rare form of FH is HoFH. It is estimated to affect as many as 1 in 300,000 people all over the world. Untreated, HoFH often causes heart disease (heart attacks and aortic valve disease) beginning in the early teen years and sometimes earlier in life. While FH is common, HoFH is a rare disorder. Lives can be saved if it is identified and treated early.

The low-density lipoprotein cholesterol (LDL-C, “bad cholesterol”) level is typically between 400-1000 mg/dL ⎯ over 4 times the normal level - if untreated.

How is HoFH inherited?

HoFH is a family disorder and affects both children and adults. A person who has HoFH has inherited two FH genes, one from both parents. Learn more by viewing the HoFH Pedigree.

Whats the Difference - HoFH vs HeFH

Diagnosing Homozygous Familial Hypercholesterolemia

HoFH can be diagnosed with a simple blood test, a physical exam, and family history. The signs and symptoms of HoFH, including the level of LDL-C, vary from person to person. HoFH may be confirmed with genetic testing.

 

Signs and symptoms of HoFH include:

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Family history of FH - Symptom of HoFH

Family History

HoFH is a family disorder. A person who has HoFH has inherited two FH genes, one from each parent.

High Cholesterol

High Cholesterol

Individuals with HoFH have LDL cholesterol levels over 400 mg/dL, and often much higher at birth.

Xanthelasmas and Xanthomas - HoFH symptom

Xanthelasmas and Xanthomas

Xanthelasmas and xanthomas are cholesterol deposits that are found under the skin or around the eyes.

Corneal Arcus - Symptom of HoFH

Corneal Arcus

Corneal Arcus is a half-circle of gray, white, or yellow cholesterol deposits in the outer edge of the cornea.

Homozygous Familial Hypercholesterolemia is Severe

It is important to remember that HoFH is a serious and life-threatening medical condition. HoFH leads to progressive and early heart disease in both men and women, as well as children. Serious cholesterol deposits in the arteries or the aortic valve of the heart can cause heart attacks in people under the age of 10! That’s why, if you or your child are diagnosed with HoFH, one of the first steps to take – as soon as possible – is to consult a lipid specialist, preferably one that treats HoFH.
Arteries and Plaque (FH and HoFH symptoms)
HoFH Treatments

Treating HoFH

There are multiple treatments for FH available today and several more in development.

Learn More
FH Community

Supporting HoFH Individuals

The FH Foundation hosts an online support group for individuals and family members affected by HoFH.

Join our community
Finding an FH Specialist

Finding an FH Specialist

HoFH is a complicated, life-threatening medical condition that requires an FH specialist's care.

Find Now

 

 

 

 

 

Page reviewed by: Dr. Mary McGowan

 

References

Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. European heart journal 2013.

Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment. Atherosclerosis 2012;223:262-8.

Watts GF,  et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. International Journal of Cardiology 2013.

Cuchel M, et al. Homozygous familial hypercholesterolemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolemia of the European Atherosclerosis Society. Eur Heart J