Familial hypercholesterolemia, or FH, is a life-threatening inherited disorder that causes high levels of LDL (“bad” cholesterol) from birth. It is common yet underdiagnosed, and if left untreated, causes early cardiovascular disease. Approximately 1 in 250 people have FH, though in the U.S., approximately 80% of those with FH are not aware they have it.
Because FH is caused by genetic mutations that affect the body’s ability to break down cholesterol, it does not respond adequately to diet and lifestyle changes alone. Unlike average high cholesterol, FH requires lifelong medical intervention.
FH can put entire families at risk for early heart disease, as it can be passed down from generation to generation. Each first-degree relative of a person with FH has a 50% chance of inheriting FH. Left untreated, men with FH have a 50% risk for a coronary event, such as a heart attack, by age 50; women have a 30% risk by age 60.
Anyone with a family history of early heart disease and/or severely elevated cholesterol should be screened for FH. The American Academy of Pediatrics recommends universal cholesterol screening of all children between the ages of 9 and 11. Children with a family history of FH should be screened at age 2. Family screening is essential: We never find an individual with FH, we find a family.
For further information, please visit The Family Heart Foundation, where you will find extensive information related to this common disorder and resources to help you find a physician who understands why it’s so important to #KnowFH. In addition, feel free to use the contact me link for printed information, to have us speak with your organization, or to have us host a table at your health fair. We are eager to spread the word and work enthusiastically to ensure that those with FH are found and treated appropriately.
And for a more personal take on the impact of familial hypercholesterolemia in my own family and the support provided by The Family Heart Foundation, check out my contributions to the conversation on their webpage:
“My social media feed is filled with all sorts of wishes for success and happiness and, most of all, good health in the 365 days that lie ahead. My 65th full year on the planet stretches out ahead of me, ripe with possibility…”
https://thefhfoundation.org/why-each-new-year-brings-hope
“I’ve had a pretty unusual life. My father died at 50 of heart disease, when I was 11. Nine years later, my 27-year-old brother–my only sibling–had a sudden fatal heart attack… At 20, I was the only member left in my family…”
https://thefhfoundation.org/caseys-story-family-history-heart-disease
I was recently honored to have been asked to write a first-person account of living with FH for Circulation: Genomics and Precision Medicine, a journal of the American Heart Association. I’m grateful for another opportunity to illustrate the impact early diagnosis and appropriate treatment over the course of 45 years can have on disease management and longevity for individuals with familial hypercholesterolemia.
https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.120.003243
News From the Advocacy Front
January 23, 2020: We raised awareness of FH at the quarterly meeting of the Schenectady Coalition for a Healthy Community at Ellis Hospital in Schenectady, NY. We put a face on FH, discussing its impact in my family; provided essential information to educate those in attendance about who might have FH, how it’s treated, and where to go for more information; and provided literature for reference and dissemination in the community. We are happy to spread the word!
September 24, 2019: FH Awareness Day! We were thrilled to receive a County Executive’s Proclamation to mark the day from Rensselaer County Executive Steve McLaughlin for the second year running. We’re grateful for his ongoing support in making more people aware of familial hypercholesterolemia and its severe yet treatable effects.
September 24, 2019, continued: And a New York State Governor’s Proclamation to top it off! So rewarding to see FH hit the radar in New York and around the country as more and more states mark FH Awareness Day.
That afternoon, I was honored to participate as a panelist in a Tweetathon for FH Awareness Day, with an ultimate reach of tens of millions of people. It was a day well spent.
