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Did You Know High Cholesterol Can Be Inherited?

  • Category: General Health
  • Posted On:
  • Written By: Matt Gougler

Chances are good that the average person doesn't know what familial hypercholesterolemia (FH) is. If you're among the one in 250 people worldwide who have this condition, however, not knowing can be fatal. That's because—if FH goes undetected—85% of men and 50% of women will have a heart attack, stroke, or cardiac arrest before age 65.

In light of these potentially catastrophic consequences, ATRIO Health Plans is using the occasion of September being National Cholesterol Education Month to increase awareness of FH.

A Gene Mutation

The majority of people with high cholesterol are guilty of less-than-stellar lifestyle choices, including: consuming foods high in cholesterol and saturated fat, while eating too few fruits, vegetables, and whole grains; exercising infrequently; and smoking.

In contrast, for an estimated 1.3-million Americans, their high cholesterol didn't stem from making poor choices. Instead, they entered the world with high cholesterol, because they were born with FH.

FH is an inherited disorder caused by a gene mutation that prevents the liver from removing excess low-density lipoprotein (LDL—often referred to as "bad cholesterol"). As a result, FH sufferers' LDL levels—if left unmanaged—can soar to lethal levels.

The "familial" portion of FH refers to the fact that it runs in families. If one parent has FH, each offspring has a 50% chance of inheriting the condition. If both parents carry the gene mutation, the chance of passing on the condition remains 50%, but there also is a 25% chance that the child will inherit homozygous FH, which is a much more aggressive and dangerous form of FH.

Who Should be Tested

A particularly troubling aspect of FH is that the vast majority of those with the disease—in fact, up to 90%—have not been diagnosed. FH testing is thus recommended for individuals whose families have a history of early heart disease or extremely high cholesterol—meaning, a father or brother who is diagnosed with one or both before age 55, or a mother or sister who is similarly diagnosed prior to age 65.

Another marker of the disease is visible cholesterol deposits in the tendons or skin, including: bumps or lumps around the knuckles, elbows, and knees called xanthomas;

swollen or painful Achilles tendons, which is termed tendon xanthomas; xanthelasmas,

which are yellowish areas around the eyes; and corneal arcus, which appears as a white arc near the colored part of the eye.

FH is Treatable

Although FH is a very serious condition, it also is a very treatable condition.

Fortunately, there are extremely effective cholesterol-lowering medications, and virtually all who are diagnosed with FH will need to take such medications throughout their lives. Those whose FH is especially aggressive may require LDL-apheresis, which is a dialysis-like procedure through which LDL is regularly removed from the blood.

To avoid exacerbating their condition, FH sufferers shouldn't smoke and should exercise regularly. And, while FH can't be significantly impacted through dietary changes alone, those with the disease should consume foods low in saturated and trans fats, along with deliberately focusing on upping their intake of fiber as well as fresh fruits and vegetables.

Through a combination of early detection and continuous-cholesterol management, those with FH can look forward to long, healthy lives.