Familial Hypercholesterolemia A Struggle that Stretches Beyond the Obvious

Familial Hypercholesterolemia, or FH, is a genetic cholesterol disorder often leading to premature heart attacks, stents, or even death. Afflicted young families face circumstances ordinarily reserved for the elderly. Imagine a five-year-old child witnessing her mother being rushed to a hospital in the throes of a heart attack. Or a father abandoning his basketball games with his eager teenagers for fear of developing angina. Consider the impact such events have on not just the parents, but perhaps more importantly their impressionable and vulnerable young children. Then reflect on how such a child responds when she learns that she too carries the gene that has so unfairly harmed her purportedly invincible parent. It is not easy having FH. The disease demands a lifetime of medical attention and assiduous introspective observation of one’s body. “Am I supposed to feel that chest sensation, or am I in trouble,” is an internal question commonly plaguing those with FH. But there are other less obvious challenges those with FH must confront.

Surprisingly, until several years ago not even lipid specialists kept the FH diagnosis on the tips of our tongues. Yes, we knew of the disorder, but considered it so rare that we felt we’d never confront it. Now we know differently. FH is actually a very common condition, afflicting one out of every 250 people. That number may not seem large, but an average medical practice of 3,000 patients will have about 15 patients with FH. And of these 15 people, perhaps 2 will know what they harbor. Herein lies the foundation of a different struggle confronting those with FH, appropriate recognition of the disease. Fewer than 10% of FH patients in America have been diagnosed. Without diagnosis, appropriate treatment cannot be administered; and without optimal treatment the risk of untoward cardiac events skyrockets. As accurately diagnosing each FH patient helps doctors identify another 8 people with unrecognized FH, an even greater urgency exists in making this diagnosis. Worse still, many of these unidentified people are young, vulnerable, and in urgent need of treatment in order to avert future heart problems. So one of the most significant struggles facing those with FH is simply learning that they have the disease. Their high LDL cholesterol is not the result of a poor diet or insufficient exercise as many patients are told; instead, they possess a genetic disease for which they bear no responsibility. And when FH is not adequately recognized, the results can be fatal.

So let’s say you are one of the rare ‘lucky’ ones with FH; your doctor has made the proper diagnosis. After learning of this disorder and digesting its ramifications, you will be advised to take a variety of medications. With mixed emotions you might go to the pharmacy to fill a plethora of prescriptions. Unfortunately your pharmacist might inform you of yet another barrier in your path – your insurance company has not approved your drugs. “But, (you scream internally) my doctor has just told me that these medicines will help save my life! How can they be denied?” And so you begin the battle fought daily by most patients with FH, the fight to obtain the medications you need and deserve. This conflict can be long lasting and arduous. As a physician who has engaged in such struggles many times over the last few years, I can offer this advice. Be proactive and stay involved in the process. Contact your insurance company and request help from your doctor. Success requires a team effort. the Family Heart Foundation is working to improve access by educating decision makers about the need for proactive treatment and the struggles patients face – we want to hear your story so we can advocate for FH patients. Most important, never surrender. Your life is worth fighting for, and knowing there are many others in your camp might provide the emotional support needed to help you stay the course.

v8U2XbkY0nqlPupU3tgnytQ0-DOOjDDoSquY_t3X8Q Seth J. Baum, MD

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