Don’t Forget the Zebras: Familial Hypercholesterolemia

Did you know that FH is very treatable but missed in 90% of cases, and leads to early cardiac death? We’ve added some calculators to try to address it:

Unless you’re an endocrinologist, FH is one of those diseases you probably memorized in medical school, brought up on rounds when the attending asked for a differential diagnosis for etiologies of sudden premature cardiac death (probably by the same kid who offers “scorpion sting” as an etiology of acute pancreatitis), and rarely considered again.

Although it’s a zebra compared to acquired dyslipidemia, it’s actually among the most common of inherited metabolic disorders. An estimated 1 in 300 people in the US have heterozygous FH (the more common form), making it about as prevalent as more well-known diseases like Parkinson’s, which affects 1 in 400, or celiac disease, which affects 1 in 300.

The problem is, despite the fact that FH is more common than doctors might perceive, it remains undiagnosed in an estimated 90% of cases. That’s huge! Especially given the fact that it’s very treatable with statins and other drugs, and has significant mortality when untreated (2% of FH patients worldwide die from cardiac causes every year, most of them around 20-50 years of age).

It’s up to your and your clinical acumen to think of the diagnosis, but our tools are here to help make it easier once you do. The gold standard is genetic testing, but even if genetic testing is negative, the disease can’t be ruled out. The Simon Broome Criteria (named NOT after two people named Simon and Broome but in fact after ONE man named Simon Broome who died from early cardiac death), and US MEDPED Criteria (named NOT after the specialty of med-peds but after the research project, Make Early Diagnosis to Prevent Early Death AND a reference to tracking MEDical PEDigrees), and Dutch Criteria (actually just criteria developed by Dutch researchers, no trick here), are three validated and widely-accepted diagnostic criteria for FH.

Check them out to see the Use Cases (now called “When to Use” on our new website), Pearls and Pitfalls, and Why Use (formerly called “Why Use It?”).

References for figures quoted in this post: