The Role of Medication for People with FH

Changing to a low-fat diet is one of the first recommendations that people with high cholesterol will receive. For people with Familial Hypercholesterolemia (FH), though, focusing on foods to help lower cholesterol isn’t enough. FH is a serious genetic condition that almost always requires medication.

What Is Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is a genetic condition that leads to aggressive and early heart disease, heart attacks, and strokes. Individuals with FH have a 20 times higher risk of heart disease than the general population.

Why Does FH Usually Require Medication?

FH directly impacts the way the liver functions, so trying to use foods to lower cholesterol is not usually enough on its own to significantly reduce cholesterol levels in patients with FH. Familial Hypercholesterolemia limits the liver’s ability to metabolize low density lipoproteins (LDL). Lipoproteins are the structures in which cholesterol is moved through the blood. High density lipoproteins (HDL) and LDL are the readings that doctors typically discuss when they talk about levels of “good” cholesterol (HDL) and “bad” cholesterol (LDL). The lower the LDL number, especially when paired with a higher HDL level, the better the cholesterol reading is said to be.

Unfortunately, a high HDL doesn’t neutralize the risks of a high LDL in FH patients. Often, dietary recommendations of foods to lower cholesterol incorporate a strategy of eating foods that boost “good” cholesterol, because HDLs pick up excess cholesterol in the blood and take it back to the liver to be metabolized. The theory is that the HDL will help lower the LDL by cleaning it up from the bloodstream. In patients with FH, however, the liver is incapable of processing the cholesterol that is being brought back, leading to plaque buildup that can block the arteries or rupture and cause heart attacks.

Leaving familial hypercholesterolemia untreated can lead to very serious, potentially fatal results. According to the National Human Genome Research Institute, men with FH are likely to have heart attacks between the ages of 40-50, and 85 percent of men with FH will have a heart attack by age 60. Women with FH also have an increased risk for heart attack, generally between the ages of 50-60.

Treatment

Treating FH takes a more aggressive form than that used for lifestyle-induced high cholesterol. FH patients need medications in addition to healthy foods to lower cholesterol, daily exercise and eliminating smoking and exposure to secondhand smoke.

FH is most often treated with a combination of medicines, usually starting with statins to impede the natural production of cholesterol in the liver. Other medications often include a cholesterol absorber, bile acid sequestrants, fibrates, niacin, phytosterols, and fish oils/omega 3 fatty acids.  There is a new class of drugs to lower LDL cholesterol in clinical trials called PCSK9 inhibitors.  These drugs are not yet available because they have not yet been approved by the FDA.

For some people with FH, drug therapy and lifestyle changes aren’t sufficient to lower their LDL cholesterol levels enough. These individuals may need a regularly-scheduled treatment called LDL-apheresis.  Apheresis takes blood or plasma out of the body, the LDL cholesterol is filtered out, and the filtered blood or plasma is returned to the body.

For more information about Familial Hypercholesterolemia (FH), contact TheFH Foundation, a patient-centered non-profit organization dedicated to education, advocacy and research of Familial Hypercholesterolemia.

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