Familial Hypercholesterolemia Awareness Day sheds light on an important genetic condition
Laurence Sperling, MD, founder of the Center for Heart Disease Prevention at Emory University School of Medicine in Atlanta, Georgia, talked with Rare Disease 360 about the importance of recognizing Familial Hypercholesterolemia Awareness Day.
Question:
September 24 is Familial Hypercholesterolemia Awareness Day. What is the importance of highlighting and raising awareness for familial hypercholesterolemia (FH) including heterozygous FH and homozygous FH?
Laurence Sperling, MD:
Although we’ve designated a single day as FH Awareness Day, September the 24, every single day should be FH Awareness Day. This is an opportunity though to highlight the importance of identification of those living with genetic cholesterol problems. We often use a simple equation, F plus H equals FH, so the F is a family history of high cholesterol or a family history of premature cardiovascular disease. The H is a high cholesterol level. Empowering those in the community, empowering clinicians, empowering health systems, and also the general populace to be aware that FH is not a rare disorder; it is quite common. By identifying those living with familial hypercholesterolemia, we can through conversations and partnership with clinicians, we can make a difference across the life course for individuals, families, communities, and populations.
Question:
What are some important considerations for physicians to ensure they are aware of and test for HoFH in particular, as applicable?
Laurence Sperling, MD:
HoFH, homozygous familial hypercholesterolemia, is a rare disorder. This occurs in about 1 in 250,000 to 1 in 500,000 individuals. Most clinicians will never encounter a case of homozygous familial hypercholesterolemia during their clinical careers, but nonetheless, clinicians should be aware of this very, very high-risk condition.
These are individuals with very high LDL cholesterol levels. Individuals that typically have a very strong family history of early cardiovascular disease. Clinicians should be educated about some of the what we call hiding in plain sight findings on physical examination like a corneal arcus, xanthelasmas, tendon xanthomas, which can be physical clues of this underlying diagnosis. Why it’s critically important for clinicians to identify those with homozygous familial hypercholesterolemia is by finding an individual living with this disorder, you have found a family at very high risk.
