There are treatments available for heterozygous and homozygous FH, and more are in development.  For many people with heterozygous FH, treatment can be relatively straightforward: a heart healthy diet, regular exercise and one or two prescription medications.  However, in other cases, treating familial hypercholesterolemia can be challenging. Regardless, patients withheterozygous and homozygous FH must receive special care that can involve extensive multi-drug therapy plans. The primary goal of treatment for both forms of the disorder is to lower LDL-C levels and reduce a patient’s risk for developing coronary heart disease.

Although the main focus of managing FH is to reduce the amounts of LDL-C in the bloodstream some forms of the disorder, including homozygous FH and severe heterozygous FH, require extensive treatment measures.

As a result, different strategies are used to develop effective treatment plans for patients diagnosed with heterozygous and homozygous FH.  While similar steps may be taken for managing both forms of the disorder, some cases will require more extensive forms of these treatments to achieve desirable outcomes. Therefore, patients and doctors can benefit greatly by being aware of the different types of treatments available for controlling both forms of FH.

Healthy Lifestyle

The first strategy doctors should use when treating cases of FH is to encourage patients to adopt a healthier lifestyle, including a heart healthy diet, regular exercise, weight control, blood pressure control and smoking cessation.

Drug Therapy

Unfortunately, making these lifestyle changes is almost never enough to treat FH. When treating patients with FH, drug therapy is almost always necessary to control the condition. When combined with diet, weight loss, and exercise, this form of treatment can be very effective in lowering extremely high cholesterol levels.

Currently, there are many medications used to lower cholesterol. Statins are the first-line treatment for FH.  They are the most commonly used drugs and are extremely effective in treating FH.  If a low-potency statin does not achieve the desired result, a higher-potency statin may be needed.  In addition, the dose of the statin may be increased in order to try to achieve the necessary reduction in LDL_C.  Other medications that can either be used in combination with statins or as an alternative form of therapy include ezetimibe, bile acid sequestrants, and niacin.

LDL Apheresis

When drug therapy is not effective in lowering LDL-C levels, or when patients are unable to tolerate available drug treatments, many patients with homozygous FH, and even with severe heterozygous FH, must undergo LDL apheresis on a regular basis.  LDL Apheresis is a process by which blood is removed, LDL-C is filtered out, and then the person’s blood is returned to their body.  It is similar to dialysis.  LDL apheresis is a demanding procedure, but it has been shown to effectively reduce LDL-C levels and studies suggest it can significantly reduce the risk of cardiovascular disease.

New Therapies

Two new therapies have recently been approved by the FDA for the treatment of homozygous FH: lomitapide and mipomersen.  In addition, clinical trials are currently underway for a new class of cholesterol lowering therapies called PCSK9 inhibitors.

Surgical Intervention

In some cases, patients have undergone a liver transplant to manage their condition.