Department of Medicine

How to Raise a Disease's Profile

Quick:  Name a disease that affects over 600,000 Americans and causes over 20,000 heart attacks per year in people younger than 60 years of age at a cost of hundreds of millions of dollars to the healthcare system?

Can't do it?

How about a hint… What if we tell you the disease is passed in families so that if one parent has the condition, each of his or her children has a 50% chance of inheriting it?

Still not sure?

What if we tell you that if the disease is found early enough (through a simple blood test) and pennies-a-day treatment is started, the risk of heart attack can be lowered to that of the general population?

Give up?  Don’t worry, you’re not alone.  The vast majority of health care providers and people in the US would also fail this test.

This is the crux of the problem for Familial Hypercholesterolemia or FH.

Joshua Knowles MD, PhD, Chief
Medical Officer for FH Foundation

How do you move a little-known disease to the forefront? Think of cystic fibrosis or hypertrophic cardiomyopathy, two genetic diseases that were underappreciated in the not-so-distant past. Smart marketing campaigns, patient organizations, and committed families helped markedly increase overall awareness of each disease.

Think about Parkinson’s disease, better known but still poorly understood, which benefited from a famous spokesperson, Michael J. Fox.  Or hereditary forms of breast cancer, which have gotten so much press from Angelina Jolie’s recent story.

Now think about familial hypercholesterolemia, agenetic disease that leads to very high levels of lowdensity lipoprotein (LDL) in the blood.  FH causes early heart attacks but usually not until after patients have passed on the gene to half of their offspring. Often neither parent nor offspring is aware of having the disease until disaster strikes.

FH is not hard to diagnose.  Usually a simple blood cholesterol test is sufficient.  Nor is it a disease that lacks a therapy: HMG-coA reductase inhibitors, better known as statins, reduce the LDL levels and stave off events.  Coupled with diet and lifestyle changes and other medications, treated FH patients can live normal lives.

What FH lacks is awareness. The FH Foundation is trying to educate the public about the disease so that the 600,000+ Americans who have the disease and do not know it learn about it and begin therapy. And have their children tested and treated if they, too, have it. Affected children begin to be exposed to high cholesterol in utero and are at much higher risk of disease; they need early and aggressive therapy.

The FH Foundation was started less than two years ago by Katherine Wilemon who, at the age of 38, had a heart attack after having sought emergency care and been turned away. After recovering, she determined to increase awareness of the disease in hopes of gaining the attention of the 90% of patients in the US who don’t know they have FH.

Josh Knowles, MD, PhD, Stanford cardiologist, is the Chief Medical Officer for the FH Foundation. He says the Foundation is focused on educating the public, healthcare providers, and policy makers.

2013 has been a big year for the Foundation.  First, it began an Advocates for Awareness program, training patients to speak about their disease in public: as patients for medical grand rounds, with local media when opportunities arise, and with groups of health care practitioners. Second, the Foundation had its inaugural FH Summit in September, bringing together all the players of importance – from physicians and patient advocates to payers, representatives of the government, researchers, and industry – to discuss best practices for diagnosing FH and trying to discover ways to embed FH into larger public health efforts. The third arm of the Foundation’s ambitious plan for this calendar year was their major initiative: the CASCADE FH Registry (CAscade SCreening for Awareness and DEtection of FH).

This Registry is a way for patients to become part of the solution by adding information about their medical history and personal experience with FH, and their voice, to the larger FH community.  A major role of the Registry is to educate patients to encourage screening of other potentially affected family members so they can be identified.

The Registry is now underway, enrolling patients as soon as they can be identified, hoping to be able to learn how many FH patients are diagnosed, what percentage of them are on treatment and, over time, how well patients do once they are identified and begin therapy. As the population of known FH patients grows, publications will follow, eventually leading to policy changes and helping to raise the profile of a little-known disease.


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