jueves, 9 de agosto de 2012

All in the Family: When High Blood Cholesterol Occurs in Families | NIH MedlinePlus the Magazine

All in the Family: When High Blood Cholesterol Occurs in Families | NIH MedlinePlus the Magazine

NIH MedlinePlus the Magazine, Trusted Health Information from the National Institutes of Health

All in the Family: When High Blood Cholesterol Occurs in Families

Katherine Wilemon is lucky to be alive today. When she experienced the symptoms of a first heart attack in 2006 at age 38, she had trouble convincing even paramedics and other medical personnel that she was a prime candidate for an attack.
Katherine Wilemon with daughter Ella
Katherine Wilemon and her 5-year daughter Ella both have the genetic condition called familial hypercholesterolemia (FH).
Photo: Katherine Wilemon
But that is the reality for Wilemon and thousands of men and women suffering from familial hypercholesterolemia, or FH, a genetic disorder in which bad cholesterol (LDL) bathes the arteries from birth. The cholesterol builds up in the body, clogging the arteries and threatening the heart. Wilemon's body has no natural way to get rid of those high levels of blood fat. FH is a devastating disease that kills people at a very young age.
FH is an inherited genetic condition. Those with FH who inherit a single faulty gene from a parent typically have an LDL cholesterol level two to three times higher than normal. Those with FH who inherit two faulty genes—one from each parent—have LDL levels from three to six times higher than normal.
People with one faulty gene who go untreated with medications can anticipate having a heart attack or other cardiac event in their 40s or 50s; those with two faulty genes, left untreated, typically have a cardiac event in their late teens or early 20s.

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Diagnosed with high cholesterol at the age of 15, Wilemon was not actually diagnosed with FH until after her heart attack in 2006. That was when Dr. John Guyton, a lipidologist at Duke University, thoroughly explained the condition to her.
People with FH need to follow a heart-healthy diet and get regular exercise. The total amount of fat eaten should be no more than 30 percent of the total daily calories. But a healthy diet and exercise are not enough for people with FH. To lower the cholesterol level sufficiently, a person with FH must be placed on significant medication at an early age. A number of cholesterol-lowering medications are currently used. The first and more effective choice are drugs called "statins."
Today, Wilemon has become a tireless advocate for more FH research and for the need to make more people aware of the genetic condition. "The consensus among experts is that only 20 percent of those with FH in the U.S. have been diagnosed," she says. "I was not properly diagnosed with FH in either of two trips to the emergency room prior to my first heart attack, or even after the installation of a stent."
Her own 5-year-old daughter has inherited FH, which gives Wilemon even more urgency to bring the disease into greater visibility among the public and physicians. "She and tens of thousands of other children deserve greater awareness of FH, so that they receive proper treatment and avoid premature cardiac events," Wilemon says.
She recently started a non-profit organization— the FH Foundation—to raise awareness about the genetic condition, which health professionals estimate could affect somewhere between one in 500 to even one in 300 Americans. If there is premature heart disease in your family," says Wilemon, "talk with your healthcare provider about FH and get tested."
Read More "Cholesterol and Hearth Health" Articles
Understanding Cholesterol and Heart Health / High Blood Cholesterol Q&A / Cholesterol Levels: What You Need to Know / All In The Family
Summer 2012 Issue: Volume 7 Number 2 Page 8-9

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