The Face of Familial Hypercholesterolemia and the Need for PCSK9 Inhibitors

The FH Foundation helps guide patients on their journey to battle a silent killer.

What if at the age of 9-years old, you had extraordinarily high cholesterol? What if physicians constantly lectured you about proper diet and exercise, not realizing the underlying cause of your disease could not be solved alone with these lifestyle changes, but instead was the result of a silent threat?

Familial hypercholesterolemia (HC) is a genetic condition that raises the amount of low-density lipoproteins (LDL) to dangerously high levels, dramatically increasing the risk of heart disease. Approximately 90% of patients with the condition are unaware that they have it, due to the fact that many physicians are not looking for the disease, as it is viewed as a rare condition.

“It is a long journey to learn about FH unfortunately, and that’s common,” said Katherine Wilemon, founder and president of the FH Foundation, who struggled with her own journey to learn about the condition. “I think unfortunately in the medical textbooks what we understand is that certainly physicians learn about FH, but the picture that is painted is most often of the rarer form of FH called homozygous familial hypercholesterolemia, where you would inherit a mutation from 2 parents and that form, that rare form, is very severe, most times affecting the pediatric patients where children actually have events before they reach their teenage years.

“I think what’s happened is there is a misconception of FH in general as a rare disease, when in fact a rare disease is defined in the United States as happening in less than 200,000 people, and there are at our best estimates about 1.5 million people in the United States with FH, so it is by no means a rare disease. It’s about as common as Type I Diabetes.”

FH is characterized by high levels of LDL, especially at an early age. For Wilemon, her LDL levels exceeded 380 mg/dL at the tender age of 15-years old. Normal LDL levels are below 100 mg/dL, and even higher for cases of more severe FH.

Wilemon proceeded to have a serious heart attack at age 39 after going nearly 2 decades without a diagnosis for her condition. As Wilemon states, this is typical of the FH journey.

Mackenzie Ames, a patient advocate with the FH Foundation, had her first cholesterol test at 9-years old and the results were not favorable.

“I had a lot of pediatricians over the years, and none of them would put me on statins because they said they didn’t want to hinder my growth in my liver as I was growing up,” Ames explained. “I never went on any medication, just a lot of lectures on diet and exercise, which with what I have, obviously isn’t the solution. It wasn’t until I was 22 that a doctor first said familial hypercholesterolemia to me. I had never heard of that before.”

Stories like these are what led Wilemon to develop the FH Foundation, an organization dedicated to spreading awareness about the condition, as well as providing an outlet to patients to learn more from others about their disease.

The FH Foundation web site is the main platform for patients to access information as well as seek out specialists in their area that deal with FH.

“We really encourage those who have FH to see a medical physician that’s part of our team who is intimately aware of the differences with FH and the fact that it needs to be treated earlier and more aggressively,” Wilemon said.

The service that connects patients with specialists in their area is called the Specialist Map. Patients can go on to the web site, type in their location, and find a specialist on the map within a 500 mile radius.

The FH Foundation also gives patients the option to become an advocate for themselves and for the condition at large by joining a group where physicians can ask in depth questions about their experiences and patients act as a live case study.

“It allows them, instead of being a victim, to become a champion in coping with this condition,” Wilemon said.

The FH Foundation web site also has a patient registry called the Cascade FH Registry, where patients can fill out information about their personal experiences. That data is collected by a team of scientists and monitored for new trends and patterns that arise from those coping with the disease.

“The FH Foundation’s national Cascade FH Registry has demonstrated that many patients with FH, even those on multiple cholesterol lowering therapies, still have residually elevated LDL cholesterol levels and remain at significant risk of early heart disease,” said Dr. Michael D. Shapiro, DO, FACC, FNLA, FSCCT, scientific advisory board member of the FH Foundation.

While FH is certainly a serious condition, it is actually quite manageable when diagnosed in a timely manner and treated aggressively. Additionally, with the advent of PCSK9 inhibitors, managing the disease has become that much easier for patients.

“PCSK9 inhibitors are game changers when it comes to cholesterol lowering, including for people with FH,” Dr. Shapiro said. “Individuals with familial hypercholesterolemia are at such high risk that lipid specialists around the world often resort to combination therapy, which still may not be effective. Even with high dose statins, ezetimibe, bile acid sequestrants, low-saturated fat diets, and sometimes LDL apheresis, individuals with FH often cannot reach the optimal range of LDL.”

But with PCSK9 inhibitors now on the market, patients with the chronic condition are filled with much hope about the future.

“There’s the hope that you won’t have to have your chest cut open, there’s hope that you won’t have to have multiple hospital visits, you won’t have to worry about whether or not your children are going to have to deal with it,” Ames said. “Any treatment that comes through that can help the situation offers an abundance of hope.”

But that hope does not come without a price of its own. As PCSK9 inhibitors enter the market with little competition presently, the cost of acquiring the medication is quite large for patients.

Praluent, the first PCSK9 inhibitor to be approved by the FDA, was announced to have a cost of $14,600 annually. Combine that with the costliness of statins and other therapies that patients with FH could be on, and the price becomes overwhelming.

“I have a mountain of credit card debt thanks to my FH,” Ames confessed. “Now that I’m at a job that covers my medication costs, and I can tell you as somebody who didn’t always have health care coverage at work, the costs are outrageous. Not only does it take a toll on your bank account or your credit card account, but it feels a little unfair that I was born with this and the only thing I can do about this is going to cost me my credit. It adds a lot of unnecessary stress when you have to worry about getting medicine that’s going to help you live.”

Wilemon hopes that policymakers will do their homework on FH before determining the cost of treatment, as she says it is vital that these patients get treated early to avoid even more costly treatments in the future.

“It’s our message that the most cost effective and life-saving way to treat FH is early diagnosis,” Wilemon explained.

Shapiro agrees with this sentiment, and says that physicians need to learn how to better identify those patients presenting with FH so they can get access to treatment sooner.

“With early detection and treatment, individuals with FH can go on to lead longer, healthier lives,” Shapiro said.

Additionally, Shapiro adds, the manufacturers of the commercially available PCSK9 inhibitors have launched programs to assist un- and underinsured patients get access to the drugs.

To those who have a strong family history of heart disease, or who have had cardiovascular events prior to late adulthood, Wilemon invites you to the FH Foundation web site where a wealth of information awaits to help you in your journey with the condition.

To those who have just been diagnosed, she advised, “Find a physician who you are confident has an accurate understanding of FH and have your family screened and don’t delay. And come to the FH Foundation web site.”