STEP 3 16 Genetic roots The cholesterol in your bloodstream comes from two sources. Food provides some of it; your body makes the rest. Because cholesterol is a waxy substance, it can’t dissolve in the watery bloodstream. To get around this problem, the body packages it with proteins and other fats into a variety of particles that mix easily with blood. One important cholesterol carrier is LDL. When a cell needs cholesterol, proteins on its surface called LDL receptors pull in LDL from the bloodstream. If these receptors don’t work properly, LDL lingers longer in the bloodstream. This allows more LDL to get into artery walls and other undesirable places. A single main gene codes for the LDL receptor protein. People with FH have a malfunctioning gene. Those who inherit just one copy of the bad gene (from one parent) have what’s called heterozygous FH. Although half their LDL receptors don’t work, the other half do. Individuals who get a malfunctioning gene from both parents don’t have any functioning LDL receptors. This is called homozygous FH. Heterozygous FH is much more common, affecting about 1 in 500 people, or about 600,000 Americans. They have LDL levels as high as 350 milligrams per deciliter (mg/dL), three times higher than is generally considered ideal. Homozygous FH affects about one person in a million. People with it have LDL levels ranging from 400 to 1,000 mg/dL. When high cholesterol is a family affair An inherited form of high cholesterol — familial hypercholesterolemia — demands serious action. Most of us with high cholesterol have the gardenvariety type brought on by eating too much cholesterol and saturated fat and too few fruits, vegetables, and whole grains. More than half a million Americans, though, have a more dangerous type. It stems from an inherited error that can send harmful low-density lipoprotein (LDL) cholesterol into the stratosphere. This often undetected condition, called familial hypercholesterolemia, can cause an early heart attack, stroke, or premature death. Since the name of the disease is a mouthful, we’ll refer to it as FH. Facts about FH ■■ One person in 500 has it. ■■ Signs of the disease include very high LDL and possibly cholesterol deposits in the tendons or skin. ■■ Only about 10% to 20% of people with FH know they have it. ■■ If untreated, 85% of men and 50% of women with FH will have a heart attack, stroke, or cardiac arrest before age 65. ■■ Individuals with FH will pass it on to about half of their children.
P750-A 7 Steps to a Healthy Heart
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