Medscape InDiscussion: Dyslipidemia Familial Hypercholesterolemia -- Hiding in Plain Sight
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Oct 21, 2021 
Katherine Wilemon, founder and CEO of the FH Foundation and long-time patient-advocate, shares her journey from personal heart attack to building a national FH registry. The conversation covers recognizing familial hypercholesterolemia, cascade family screening, registry insights on disparities and treatment gaps, and current therapies from statins to PCSK9 inhibitors.
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Founder Survived Early Heart Attack From Undiagnosed FH
- Katherine Wilemon had a heart attack at age 39 after lifelong LDL >300 despite no explanation.
- It took her five years of research to learn she had familial hypercholesterolemia, which spurred founding the FH Foundation.
ICD-10 And Registry Turned FH From Invisible To Trackable
- Getting an ICD-10 code and a national registry made FH visible and measurable in the US.
- The FH Foundation built a 40-site registry and pushed coding to break decades of siloed, invisible data.
Machine Learning Efficiently Finds Probable FH Cases
- Machine learning applied to large health datasets can efficiently flag probable FH.
- The FH Foundation's algorithm validated that ~80% of flagged individuals truly have FH, accelerating diagnosis in health systems.