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September is National Cholesterol Education Month 
September 24 is FH Awareness Day.

Familial Hypercholesterolemia or FH for short , is a rather common genetic lipid disorder with a prevalence of about 1 in 250 people. FH is inherited by autosominal dominant genes and therefore has a strong tendency to afflict multiple family members. Unfortunately FH is vastly under-diagnosed with only about a third of people being aware that they carry the gene for this condition. The good news however is that it is rather easily diagnosed by a simple blood test and if needed genetic testing as well. What further aids the diagnosis is a strong family history of premature heart attack or stroke or peripheral circulation deficits in the family. Even greater news is that we now have excellent therapies for FH including multiple drug classes as well as injectables whose dosing frequencies range anywhere from twice a month to once a month to Bi-annual shots; furthermore, additional therapeutics are emerging on the horizon including gene therapy approaches — it is indeed an exciting era for FH patients who can now expect to have a normal lifespan and fight their genes effectively, thanks to the wonderful medical advances over the years.

The purpose of raising awareness regarding this rather common but serious genetic condition is so that providers and patients alike can contribute to timely diagnosis and treatment.

The genetics behind FH may not be reversible at this time, but the catastrophic consequences can be effectively overcome through timely diagnosis and management. FH awareness day therefore symbolizes not just “hope” but “certainty” provided by therapeutic options that can help not just fight the curse imposed by genes but conquer it effectively!

Written by,

Sudha Ravilla, MD,  Diplomate-ABCL, FNLA
FSU Health Lipidology