Familial Hypercholesterolemia (FH)
Championing Change in the Treatment of FH
Two years after the approval of a novel class of lipid-lowering therapies; the PCSK9 inhibitors, evidence continues to demonstrate that lowering LDL-C reduces death and the specific burdens of heart disease. For individuals with familial hypercholesterolemia (FH), this is truly great news. Most people in the FH population need multiple therapies to reach a low enough LDL-C to protect them from the ravages of heart disease.  

What is also clear is that having scientific breakthroughs and effective medications is not enough. FH is poorly understood in the medical community, in the health insurance industry, and in the general population.

This week, the FH Foundation joined leaders from around the world at the American College of Cardiology. We are playing a key role in bringing about accelerated awareness of FH and the families that are suffering because their condition is not being responsibly treated.

The gaps in care continue to be enormous:

  • Only 10% of people with FH have the correct diagnosis.
  • Only 45% of individuals with FH who are being treated at even specialized lipid clinics have achieved an LDL-C below 100 mg/dL today.
  • Only ~1% of diagnosed FH individuals are prescribed a PCSK9i and less than half of those individuals gain access to the medication.
Let us know if you are having challenges. 
We can help you and will advocate for you. We must work together to make FH a priority for healthcare providers, health systems, and payers. Your stories and your voice are important. 
FH Foundation in the News
When PCSK9 inhibitors were under review in 2015, the FH Foundation was at the FDA hearing and we shared data from the CASCADE FH® Registry that underlined the high unmet medical need for additional treatment options in the FH population.  PCSK9 inhibitors are specifically indicated by the FDA for the treatment of FH. Yet, as Katherine Wilemon, FH Foundation Founder and CEO shared with Matthew Herper in a Forbes interview this week, despite our efforts to work productively with payers and pharmacy benefit managers (PBMs), more than 62% of FH patients who have been prescribed PCSK9i therapies are denied coverage.

The FH Foundation connected FH Advocate for Awareness Tommy Mann with Forbes to share his two-year battle to have his PSCK9i prescriptions covered by his insurance company. Tommy comes from a family who has suffered greatly from FH and yet he has been continuously denied coverage. Despite other treatments, his LDL-C is at 170 mg/dL.
ODYSSEY Outcomes Results Promising for Individuals with Familial Hypercholesterolemia
Joshua W. Knowles, MD, PhD 
Chief Medical Advisor, FH Foundation
The ODYSSEY Outcomes trial studied the impacts of Alirocumab (Praluent), which is an injectable antibody PCSK9 inhibitor that has been shown to significantly reduce LDL-cholesterol levels in prior trials.

While the results did not include FH-specific analyses, there is undoubtedly an enrichment of FH patients in the subset that showed the most benefit in the ODYSSEY trial, those with an entry level LDL-C >100 mg/dL. In the pre-PCKS9i era, data show that only 25% of FH patients achieve an LDL <100 mg/dL.

  • Alirocumab was effective in lowering LDL-cholesterol by about 55%
  • Alirocumab was also effective in decreasing cardiovascular events by about 15% with a decrease in overall death.
  • Side effects were rare and there was no increase in serious side effects

People with FH are at a high lifetime risk of early heart disease, resulting in early heart attacks and strokes. Research consistently shows that LDL-C is the key determinant of cardiovascular risk and primary target for treatment. For many people with FH, high-intensity statins are not enough and a combination of therapies to lower LDL-C are required.