This genetic condition can affect your cholesterol

Familial Hypercholesterolemia (FH) is a mouthful to pronounce and is an inherited defect that affects how the body processes bad cholesterol.

LDL cholesterol is considered the “bad” cholesterol, and HDL is the “good” cholesterol. LDL contributes to fatty buildup in arteries, called atherosclerosis. FH is a genetic disorder which can result in overproduction of bad cholesterol particles and/or crippling the body’s ability to recycle or get rid of the LDL cholesterol in one’s body.

People with FH have a significantly higher risk of premature and accelerated coronary artery disease as well as strokes.  According to the American Heart Association, 1 out of 250 adults in the United States have the FH genetic mutation, especially those with European descent.  Though equally common in men and women, FH is usually underdiagnosed and undertreated.

“With heart disease being the number one cause of death for men and women in the US,” says Dr. Li Shien Low, an interventional cardiologist with Advocate Medical Group in Aurora, Ill., “it’s important to bring awareness to FH, as early detection and control will reduce the risk and severity of cardiovascular disease.”

The American Heart Association criteria for a clinical diagnosis of FH is severely elevated LDL of > 190 mg/dL, and either a first degree relative with LDL of > 190 mg/dL or with known premature coronary artery disease. FH is usually passed down from one parent or both.

“If a parent, child or first-degree relative has FH, it is wise to inform the other family members so they can undergo the appropriate screening,” Dr. Low says.

Patients with untreated, elevated LDL may have fatty deposits of cholesterol on tendons or under the skin on parts of their elbows, hands, knees, ankles and even eyelids.

“Suspicion for FH can be easily detected with a simple fasting lipid analysis,” Dr. Low says. “It can be ordered by your primary care physician and is even available for free at health fairs and health screenings.”

Dr. Low says that genetic testing is also available for further confirmation. However, it does not contribute substantially to your physician’s decision-making.

Despite the seriousness of FH, medications and treatments options are available to control and maintain this genetic disorder. Statin medications are typically the first line treatment and are very effective, safe and well tolerated.

“Sometimes my patients are not able to tolerate one kind of statin, but that does not mean they will not tolerate another. Have an open dialogue with your physician so they can tailor a treatment plan that is most effective for you. If your LDL levels cannot be effectively lowered despite maximal oral medications, cardiologists now have the option of PCSK9 inhibitors, which is an injection that is easily self-administered every 2 to 4 weeks.”

Unfortunately, those with FH cannot successfully lower their LDL in the absence of medications. Of course, medications are more effective when paired with healthy lifestyle and dietary modification.

“You may not be able to choose your genetics, but you are able to control your environment,” offers Dr. Low. “A simple dietary change I recommend to my patients is having steel cut oatmeal for breakfast every morning.”

The right medication, knowledge and health professionals can assist you in living well. Early detection, aggressive control of LDL, risk factor modification and adopting a healthy lifestyle can decrease the risk of heart disease.

“Just take the first step and get a simple fasting lipid analysis,” Dr. Low says.

Suspect you might have other heart risks? Take our quick, online health risk assessment to see if you should go see a cardiologist.