HIDING IN PLAIN SIGHT – A HIGH-CHOLESTEROL GENE

The Spring 2014 issue of Stanford Medicine is dedicated to “the mysteries of the heart”. This collection of important articles shed light on the latest in cardiovascular research and the shocking – and enlightening –  stories of people with heart disease.
In “Hiding in Plain Sight: A High-cholesterol Gene”, FH Foundation Advocate Scott Radabaugh shares with readers how his life was dramatically changed one day at the gym. At age 43, Scott’s long battle with high cholesterol and undetected – but present – heart disease symptoms finally received a name – familial hypercholesterolemia (FH). How is this different from “high cholesterol”? The key is in the word “familial”; in other words, inherited. Dr. Joshua Knowles and other experts from Stanford explain what makes FH so much more severe and life-threatening than “garden-variety high cholesterol”.
In fulfillment of its mission to serve individuals with FH and advance the science behind it, the FH Foundation launched the familial hypercholesterolemia patient registry, called “CASCADE FH”, in 2013. CASCADE FH stands for CAscade SCreening for Awareness and DEtection of FH. Cascade screening is the process of screening first-degree relatives of individuals who have been diagnosed with a genetic disease (such as FH). Because FH is inherited (if you have FH, your parents, siblings, and children have a 50% chance of also having FH), this family screening follow-up is crucial to detecting and treating FH as early as possible. Patients with FH all across the United States have started enrolling in the registry to help researchers understand the mysteries of FH and why Scott’s story – getting diagnosed with FH only after a cardiac event – is such a common scenario.