Familial Hypercholesterolemia (FH) is a genetic disorder of LDL cholesterol handling which can lead to heart attack and stroke at very young ages. You may be shocked to learn that afflicted children as young as four years old have required bypass surgery or even perished from heart attacks. More surprising still is the fact that we now recognize that FH is far more common than previously believed. Some studies indicate that one in 200 people has a “milder” form of the disease, while one in 160,000 suffers from its most severe variant. It’s all FH though, and even in mild cases the risk of heart attack can be 20 times that of a “normal” individual. Heart attacks in such cases occur much earlier in life than would ordinarily be anticipated. Here’s an example to which everyone can relate. 20% of patients who have heart attacks under the age of 45 have FH. Consider all the young people you know who’ve had heart attacks. One fifth of them probably have this genetic disorder. That is a huge number. The most recent estimate puts the number of FH patients in the US at 1 to 2 million. So that is certainly not rare! The number of extraordinarily severe cases is probably between 2 and 3 thousand, qualifying for the definition of a rare disease – being fewer than 200,000 in the US. Distressingly, only about 10% of FH patients have been identified as having the disease. That leaves 90% unrecognized, undertreated, and at great risk. We must change this pattern.
It is imperative on this Rare Disease Day that we all do our part to spread the word about FH. If you or someone you love has an LDL-Cholesterol greater than 190 mg/dL you very likely bear this genetic malady. That means every one of your first-degree relatives – parents, siblings, and yes, even your children – has at least a 50% chance of also having the disease. Early treatment is key to improving outcomes. That’s why we recommend all children with a family history of premature heart disease or very high LDL cholesterol have their initial cholesterol level checked at the age of 2. By identifying family members with FH we can then treat them accordingly. Early recognition saves lives, sparing families the agony of losing a young, vibrant relative in the prime of her life. The good news is that there is much we can offer patients with FH. Novel medications and procedures such as LDL apheresis can dramatically lower LDL levels. Please join the FH Foundation in the fight against FH.
Written by : Seth Baum, MD, FACC, FACPM, FAHA, FNLA