We’ve all heard the warnings: Eat a healthy diet rich in fruits, vegetables, and whole grains, and limit intake of food high in saturated fat and cholesterol to avoid sending your blood cholesterol rates into the stratosphere. “Too much cholesterol clogs the arteries,” your doctor warns, “And could lead to heart disease or contribute to a heart attack or stroke” Yet despite the warnings, about according to the Centers for Disease Control. For many people, the high readings are due to poor diet. However, for as many as one in 500 people, high cholesterol has nothing to do with diet and everything to do with genetics.
Along with your father’s eyes and your mother’s short temper, if either (or both) of your parents have high cholesterol, there’s a reasonably good chance that you will have the same condition. Food gets most of the blame when it comes to cholesterol. However, our bodies also produce cholesterol, as it performs three very important functions. First, cholesterol helps form the outer layer of our cells. It’s also vital to the production of vitamin D, as well as important hormones like estrogen. Finally, cholesterol is part of the bile acids that help us digest food. In short, while too much cholesterol isn’t good for your cardiovascular system, a certain amount of the waxy substance is vital to good health and basic bodily functions. However, the type of cholesterol that the body naturally produces is LDL, also known as the “bad” cholesterol. Cells attract LDL cholesterol via LDL receptors, another protein that pulls the cholesterol from the blood. In some people, though, the LDL receptors don’t work properly, which causes LDL to remain in the bloodstream and eventually build up on the artery walls. Making matters worse? If your diet is high in fat and cholesterol, and your blood already has naturally high LDL levels, you could be on the fast track to a serious cardiac episode. Faulty LDL receptors are a genetic issue, as a single gene is responsible for the development of the protein. Called familial hypercholesterolemia, or FH, the condition often goes undetected, since traditional cholesterol tests only measure the level of cholesterol in the blood, not the causes of the condition. And the type of FH that you have depends on your genetic makeup: If one parent passes on the bad gene, you have heterozygous FH, meaning that half of your LDL receptors work. If both parents give you the bad gene, you have homozygous FH. In fact, if both parents have FH, there is a 100 percent chance that their children will have it as well. The risk goes down to only 50 percent if just one parent has the bad gene.
Diagnosing FH is often difficult, because the symptoms aren’t any different from diet-related high cholesterol. In some cases, cholesterol deposits on the tendons or skin indicate a problem, but in most cases, FH is difficult to distinguish from typical high cholesterol. That’s why it’s important to know your family history and regularly test your cholesterol levels. In families with a tendency to have high cholesterol, even children should be tested. In general, your doctor will recommend tests for FH if:
You have a family history of high or uncontrollable cholesterol.
Your overall cholesterol is 300 mg/DL or higher.
You have excessively high LDL cholesterol (more than 250 mg/DL) with relatively healthy HDL and triglyceride levels.
You have early signs of heart disease.
If your doctor determines that you have FH, your siblings and children should also be tested if they have not already, so they can begin treatment and avoid serious complications.
FH is a chronic disease, and while it cannot be cured, it can be controlled. Many people with FH take drugs like Vytorin, which controls both the cholesterol created by food as well as the excess LDL attributable to FH. However, in the case of homozygous FH, drugs are generally supplemented with apheresis treatments that use dialysis-style machines to filter excess cholesterol from the blood. People with genetically high cholesterol can also benefit from lifestyle changes geared toward reducing LDL cholesterol levels. A healthy diet based on produce, whole grains, lean white meat, and fish can go a long way toward keeping cholesterol in check. In fact, many people with FH are encouraged to maintain a vegetarian diet, or at least a mostly plant-based diet, and avoid red meat, full-fat dairy products, and other foods high in saturated fat and cholesterol. Exercise is also important when it comes to reducing cholesterol. Aim for at least 20-30 minutes of exercise each day; even small changes, like taking the stairs instead of the elevator, can help reduce your cholesterol. So while you might not be able to blame your parents for everything that is wrong in your adult life, if you have high cholesterol, they may be at least partially to blame. Talk to your doctor and know your numbers and your risk, as it could just save your life.