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?
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:
Homozygous Familial Hypercholesterolemia is Severe
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