Uncovering genetic link leads to better treatment
Certain types of high cholesterol can have a genetic link. This inherited disorder is called familial hypercholesterolemia (FH). Hypercholesterolemia is the medical term for high cholesterol in the blood. FH is caused primarily by a genetic defect on chromosome 19, which prohibits the body from effectively removing low-density lipoproteins (LDL), sometimes called “bad cholesterol,” from the blood.
Familial hypercholesterolemia is a condition characterized by severe, lifelong elevation of LDL cholesterol. FH is a significant public health problem and puts patients at a 20 times higher long-term risk for coronary heart disease and atherosclerotic cardiovascular disease.
With early diagnosis, cholesterol-lowering medications and aggressive therapy, patients with FH can effectively manage their cholesterol levels and reduce their risk for atherosclerosis and coronary heart disease to rates that are comparable with the general population.
Who Is at Risk For Familial Hypercholesterolemia?
Patients with close family members who had early-onset heart disease – including male relatives who had a heart attack or stroke before age 55 or female relatives who experienced a heart attack or stroke before age 60 – may be at increased risk of familial hypercholesterolemia.
You may also be at risk for FH if you have had:
· A heart attack or stroke before age 55 (for men) or 60 (for women).
· LDL levels above 190 at any time (even if it came down with medication).
· LDL levels above 130 while on cholesterol-lowering medication (statins).
· Bell’s palsy.
“Having long-standing hypercholesterolemia leads to a higher risk of experiencing a heart attack or stroke at a younger age,” explains Wael Eid, MD, an endocrinologist and a lipid specialist with St. Elizabeth Healthcare. “If you have risk factors for FH, you should talk to your doctor about aggressive or specialized care to help prevent heart attack and stroke for you or your family.”
FH is typically diagnosed through clinical observation of a patient’s lifelong cholesterol levels and family medical history. If needed, genetic testing might be done as well.
Treatments for Familial Hypercholesterolemia
Patients diagnosed with FH are encouraged to lower their cholesterol levels through lifestyle changes and prescribed medication. “FH can be easily diagnosed and treated to prevent the risk of further cardiovascular problems,” said Dr. Eid. The earlier the treatment, the better the outcomes.
Eliminating foods high in trans fats and saturated fats – including red meat, full-fat dairy products, fried foods, baked goods and fast food – is a key step in helping control cholesterol levels. Exercising more, quitting smoking, reducing alcohol intake and increasing fiber intake can also help lower LDL levels.
As important as these lifestyle modifications are, most FH patients need additional medical treatment in order to bring their cholesterol levels to safe values. Your provider may prescribe medications such as Crestor, Lipitor and others.
If patients are intolerant to these medicines, other excellent and safe alternatives are available. In some cases, a combination of medications might be needed.
What Should I Do If I Have Questions About My Cholesterol Levels?
If you have questions about your cholesterol levels – particularly if you have one of the risk factors outlined above – talk with your provider about whether you should be screened for familial hypercholesterolemia.
Existing or new patients can schedule an appointment online with a St. Elizabeth primary care provider by visiting https://www.stelizabethphysicians.com/care/access-to-care/scheduling.
