The following letter was sent by Joshua Knowles in response to a previous post, Desperately Seeking Patients: New Cholesterol Drug Makers Fuel Research To Find Customers. Dr. Knowles is a faculty member and clinician at Stanford University who specializes in familial hypercholesterolemia. He is also the chief medical advisor for the FH Foundation.
Dear Mr. Husten,
I appreciate your coverage of familial hypercholesterolemia (FH) and the work of the FH Foundation. I would like to comment on the role of the FH Foundation so that your readers may better understand our origins and mission.
There is universal agreement that FH is a devastating disease with huge individual, family and societal costs. FH is a common genetic disorder that causes very high LDL cholesterol from birth and too often leads to early, aggressive heart disease. FH affects 1 in every 200 to 500 people – over 1 million individuals in the U.S. As you rightly point out, there is a lack of awareness of FH that has persisted and less than 10 percent of FH patients are currently diagnosed. However, we know that when FH is diagnosed and treated early enough, its adverse effects can be ameliorated. The World Health Organization (WHO), Centers for Disease Control (CDC) and National Institute for Health and Care Excellence (NICE) in the UK have weighed in on this (DOI: http://dx.doi.org/10.1016/j.ahj.2014.09.001). FH has been hidden in the shadows for decades, continuing to wreak havoc on families, despite the availability of statins and other effective treatment regimens. The FH Foundation was founded only a few years ago by patients who have been profoundly affected by FH. Half of our Board of Directors are people living with FH, the other half are doctors who treat FH. We are represented by staff and volunteers with FH and the doctors, nurse practitioners, and genetic counselors who treat them.
While the FH Foundation receives funding from sources including pharmaceutical companies representing the range of FH treatments, lab testing companies, genetic testing companies, and private philanthropy, the execution of the Foundation’s important work remains exclusively patient-focused and has mostly been a labor of love. None of the members of the Scientific Advisory Board are compensated financially for their time. Katherine Wilemon, the Founder and President, worked several years unpaid, funding the effort herself at the start. I have over a thousand hours doing work for the FH Foundation and am not paid for my time.
We do it because we believe in the mission.
When we started the FH Foundation we took at look at what was known about FH in the U.S. It was a sobering revelation. At the time, there was no active national patient registry. We did not have any idea how patients were being diagnosed or treated or were faring. There were fewer than 10 grants funded by the NIH for FH. In contrast, the NIH had funded over 300 grants for cystic fibrosis (CF) largely because of the efforts of the non-profit CF Foundation. The CF Foundation had the foresight many years ago to start a national CF registry. Essentially all CF patients in the country are now in that registry and are tracked over time. This data-driven approach has resulted in life-changing therapeutic developments and the lifespan of CF patients is dramatically longer now than it was 20 years ago. The CF community is tightly knit and works closely to advocate for proactive care. We have tried to emulate that model. To make change requires data. Getting data requires resources.
Largely thanks to the dedication of FH healthcare providers and patients, in two years, the CASCADE FH registry has enrolled over 2,500 people with FH and we have begun to present and publish initial results. Quite frankly, this is amazing progress made possible by all of the people and organizations that support and work with the FH Foundation. But again, the statistics are sobering. Over 25 percent of FH patients in CASCADE FH have heart disease by the time they are diagnosed and age of diagnosis is also late (on average people are not being diagnosed until almost age 50). We view these statistics as unacceptable to FH patients and are trying as hard as we can to change that.
If there were an ICD-9 code for FH to flag patients in the electronic medical record, we would be ahead of the game. There is no such code, which is why we led the effort to apply for distinct codes for FH to the ICD-10 Coordination and Maintenance Committee of CMS and the CDC. We are awaiting their decision. In the absence of such ICD-10 codes, we need revolutionary ways to identify FH patients before they suffer irreversible consequences. This is the rationale for the FIND FH project, another initiative of the FH Foundation, which is funded not only by industry partners including both Amgen and Sanofi/Regeneron, but also by the American Heart Association (AHA) and Stanford University. Although the FH Foundation applied for NIH funding for some of these efforts, our application was not approved, a fate shared by over 90% of research applications at a time of historically low NIH funding.
We are incredibly fortunate to be in this moment when more attention is being focused on FH, not only because of advances in research but also because of the promise of precision medicine and the potential of the “big data” revolution.
We have worked tirelessly to change the landscape for FH, but we cannot do it alone. We approach all of our collaborations with patients in mind, as we are all patients or FH healthcare providers ourselves. We certainly are encouraged that there is interest from all sectors to help raise the profile of FH. We will continue to look for support and are sure that these efforts will help FH patients live longer, healthier lives.
Joshua W. Knowles, MD-PhD, FAHA, FACC
Assistant Professor, Cardiovascular Medicine, Stanford University
Attending Physician, Stanford Center for Inherited Cardiovascular Disease
Familial Hypercholesterolemia (FH) Clinic
Chief Medical Advisor, FH Foundation