Heterozygous Familial Hypercholesterolemia (HeFH)

What is heterozygous familial hypercholesterolemia (HeFH)?

Heterozygous familial hypercholesterolemia (HeFH) is an inherited disorder that causes high levels of low density lipoprotein cholesterol (LDL-C); the liver is unable to regulate the LDL-C properly. HeFH is one form of Familial Hypercholesterolemia (FH).

What are the symptoms of heterozygous familial hypercholesterolemia (HeFH)?

HeFH compromises the liver’s ability to metabolize or remove particles that carry cholesterol through the blood. These particles exist in two forms: high density lipoprotein (HDL) or “good cholesterol” and low density lipoprotein (LDL) or “bad cholesterol.” Those with HeFH have livers that have trouble keeping LDL in check, leaving patients vulnerable to coronary artery disease, cerebrovascular disease, peripheral vascular disease and/or other conditions associated with high cholesterol.

What causes heterozygous familial hypercholesterolemia (HeFH)?

HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited. 

How is heterozygous familial hypercholesterolemia (HeFH) diagnosed?

HeFH should be considered in an untreated child with LDL-C above 160 mg/dL and in an untreated adult with LDL-C above 190 mg/dL. HeFH can be diagnosed using DNA testing or by utilizing one of three well-accepted sets of criteria — Simon Broome (UK), Dutch Lipid Clinic Network (Netherlands), or MEDPED (US). DNA testing confirms the diagnosis.

What are the treatments for heterozygous familial hypercholesterolemia (HeFH)?

Changes to diet and lifestyle habits are important parts of a HeFH treatment, as is  cholesterol-lowering medications. Statins, a common type of cholesterol-lowering drugs, inhibit the production of cholesterol in the liver.  They are often prescribed in combination with other cholesterol-lowering medications.

Where can I find out more about heterozygous familial hypercholesterolemia (HeFH)?

• National Organization of Rare Diseases (NORD)
• NIH
• Familial Hypercholesterolemia Foundation