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.

What is HeFH?

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.

Undiagnosed FH can lead to a heart attack at an early age.
Undiagnosed FH can lead to a heart attack at an early age.

What Complications Can Arise from Heterozygous Familial Hypercholesterolemia?

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.

Early Detection of the Disorder is Crucial

Cleveland Clinic notes that the survival rate for U.S. patients hospitalized with MI is approximately 95%, but early detection of HeFH is still extremely important.  Individuals with FH have 20 times the risk of early heart disease of the general population.   Routine lipid panel tests may discover elevated levels of LDL-C.  LDL-C of 190 mg/dL or greater for adults, or 160 mg/dL for children, and a family history of elevated cholesterol or early heart disease may indicate FH.

If there is a family history of heart disease or high cholesterol, it is important to ask your doctor to screen you for familial hypercholesterolemia.

How is Heterozygous Familial Hypercholesterolemia Treated?

A diet rich in fruits and vegetables may help to lower LDL-c.
A diet rich in fruits and vegetables may help to lower LDL-c.

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.

0 Responses to “What is HeFH?”

  1. Ronetta Canterbury

    I have 2 stents & my doctor says can’t control my ldl & my trigs are to high also so this is good news.


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