Familial Hypercholesterolemia is a genetic disorder that causes high cholesterol and can lead to heart disease. Here is some more information about this medical condition.
Cholesterol comes in two forms in the body. HDL or HDL-C, which is good, and LDL or LDL-C which is bad. Familial Hypercholesterolemia or FH is a genetic cholesterol disorder that is passed down by parents to their children. It occurs when there is a defect on chromosome 19, which prevents the body from getting rid of the bad cholesterol in the blood. This causes the LDL to be very high.
FH can be inherited by one parent, or both. Around 1 in 250 people have FH, and almost 90% of that number have never been properly diagnosed. In the United States it is estimated that 1.3 million people are living with FH. Though the chance for inheriting FH exists in all people groups it is more common in French Canadians, Ashkenazi Jews, Lebanese, and South African Afrikaners, where the likelihood of inheriting the disease is increased to 1 in every 67 people.
Familial Hypercholesterolemia is a part of the body at birth. While the initial symptom is high cholesterol, the main concern is the chance for increased heart diseases.
FH can lead to heart disease and heart attacks as early as childhood. Other symptoms include strokes, and narrowing of the heart valves.
Proper diagnosis is essential to help prevent the side effects of FH. Early detection will help you make the proper choices concerning your lifestyle and healthcare. Not smoking, exercising regularly, eating a diet low in saturated and trans fats, and taking medications as prescribed can all help reduce the risk of heart attack and stroke. Medication is necessary to keep LDL under control for those with FH, and for some people LDL apheresis is required. LDL apheresis is a process to remove cholesterol from the blood by separating the plasma from the blood via a machine. It is similar to the process of Dialysis and can be used on a weekly or biweekly basis if needed.
For early diagnosis the American Academy of Pediatrics recommends having children tested between the ages of two and ten. If your family has a history of early heart disease and early heart attacks (before 55 for men, and before 65 for women), then the children in your family should be tested for Familial Hypercholesterolemia.