Resources Available for Hypercholesterolemia Patients


As with many rare diseases, the treatment options for patients with familial hypercholesterolemias are few and far between. In this segment, the panelists discuss several viable options for treating this condition.

Moderator Abhimanyu Garg, MD, says that the most common treatments now are also not effective with everyone. “The conventional therapies like statins or ezetimibe, bile acid sequestrants, they really don’t work well in patients who have mutations in both their alleles and have extremely high levels of LDL cholesterol.”

Those patients must undergo LDL aphaeresis, during which they are hooked up to the machine for either weekly or biweekly sessions, depending on their condition. The two new medications that have been approved, Kynamro and Juxtapid, also have their own risky side effects, including some which affect liver fat.

“They accumulate liver triglycerides, so we have to watch for liver function tests, and down the road we have to watch for whether there is any effect on causing hepatic fibrosis with these medications,” Garg notes.

Elaine Cochran, MSN, CRNP, says that patients dealing with these issues can turn to several resources for more information. These include the Familial Hypercholesterolemia Foundation and also the National Heart, Lung, and Blood Institute, which is part of the National Institutes of Health.

“Ever since I’ve been at the NIH and continued through to this day, there’s always a continued direct research interest in these families and these patient populations and there’s ongoing active clinical trials with patients with these conditions,” Cochran says.

Cochran also points out hospitals with specialized lipid clinics which are located in Dallas, Seattle, and New York, as well as a website where patients can learn about ongoing clinical trials.

Vanessa Rangel Miller, MS, CGC, MBA, says other potential resources include the Lipodystrophy registry, Lipodystrophy United, and the LD Connect program.

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