What is HeFH?

One of the most under-recognized causes of cardiovascular disease is heterozygous familial hypercholesterolemia (HeFH). Roughly one in 500 people are affected by this disorder, but unfortunately, most cases remain undiagnosed.

Familial Hypercholesterolemia (FH)  is an inherited disorder that causesatypically high levels of low density lipoprotein cholesterol (LDL-C).  With this disorder, the liver is unable to regulate the LDL-C in a typical manner.  Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder.  If you have inherited the mutated gene that causes high cholesterol levels from only one parent, you have heterozygous FH. It is estimated that fewer than 10 percent of persons affected by this disorder are properly diagnosed.

More rarely, an individual will inherit the mutated gene from both parents, resulting in homozygous familial hypercholesterolemia (HoFH).  This disorder has more pronounced complications and is more difficult to control.  Homozygous FH affect approximately one in one million people worldwide.

Many cases of heterozygous familial hypercholesterolemia go undetected until the undiagnosed individual suffers myocardial infarction (MI),or a heart attack.  People with HeFH may notice deposits of cholesterol called xanthomas around the tendons, or xanthalasmas on the eyelids, but due to the elevated levels of LDL-c,  the most dangerous cholesterol deposits are not visible . When LDLs are elevated, arteries can become narrowed by cholesterol deposits, or plaques, and have less flexibility.  Plaque buildup can lead to stroke, cardiovascular disease, or peripheral vascular disease. If a buildup of plaque ruptures, a blood clot may form and lead to a heart attack. Many of these complications can arise at an age that is not typically associated with cardiovascular problems.

Once a diagnosis has occurred there are steps your physician may want you to take to lower your LDL-C levels. Some common lifestyle changes that are requested from a person with HeFH are weight control, exercise, cessation of smoking, and ensuring a heart healthy diet.

Your physician may also incorporate medication to control high LDL-C levels. No matter what the advice, instructions given to you by your physician should be followed to ensure the delayed onset of vascular problems.