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It’s National Cholesterol Education Month! – Color

Stephanie E. Wallace

Familial Hypercholesterolemia — it’s a mouthful. If it sounds vaguely familiar, it’s because it has started to gain some notoriety in recent years. It has been recognized by the Centers for Disease Control (CDC) as a Tier 1 recommendation for population health testing and with the help of the FH Foundation and the CASCADE registry, it has started to work it’s way into the public awareness.

Some people are reading those words, Familial Hypercholesterolemia (FH) and thinking, wait I have high cholesterol in my family, could I have FH? The answer: maybe. FH is one of the most common (and under-diagnosed) genetic diseases:

  • About 1 in every 220 individuals has FH.
  • In those with high cholesterol, that number can jump as high as 1:50
About 1 in every 220 individuals has FH.

Clinicians often use a combination of physical exam, blood work, family history and genetic testing to flag those that may be at risk. Mutations in three genes are known to be the culprit in the majority of cases: LDLR, APOB and PCSK9 and can serve as a definitive diagnosis of FH.

For many people with a clinical diagnosis of FH (based on personal and family history) genetic testing will reveal an underlying mutation that points to the cause of their high cholesterol. For these individuals, a positive result can be validation and an answer to the mystery of their cholesterol levels.

Risk for Coronary Artery Disease in General Population (left) and the FH population (right)

In the case of FH, many individuals have been told that they should eat better, work out more and make better lifestyle choices to lower their cholesterol. In persons without FH, these tools will often prove effective. But for someone with FH, their cholesterol remains high and persists even with substantial lifestyle changes. That’s because we know that in individuals with FH, the common strategies are encouraged, but additional intervention in the form of medication is often needed. For those with a genetic diagnosis, there is written proof that their genes are not helping them out and this puts them on a clearly marked path for management and surveillance.

However, the group we don’t often talk about are the ~30–40% of individuals who have been told they have FH or very likely have FH, but when genetic testing results arrive — no mutations identified. For those with “not mutations identified” the path can seem less clearcut. They may not get the “definitive” diagnosis status or validation for their efforts.

Does a negative genetic test result mean a person does not have FH? Absolutely not. At this time, we don’t know all of the causes of FH. There are still genes to be discovered and in some cases, it may be a mixture of multiple changes in the DNA, often referred to as polygenic. Family history and personal history can help to guide management moving forward. Use of tools like the US MEDPED Program, Simon-Broome criteria and Dutch Lipid Clinic criteria can still be used to help diagnose FH and help physicians and patients understand their risk.

For the majority of us, eating healthy, exercising and sharing our family histories with our healthcare providers will help in the management of our cholesterol and lower our risk for coronary artery disease and heart attacks throughout our life. For some, additional help may be needed. September is National Cholesterol Education Month. Talk to your healthcare provider about your cholesterol and, if your like me, drop not-so-subtle hints to those around you to talk to their physicians during their yearly checkup (everyone’s phone has a reminder tool). To learn more about FH, the symptoms and family history red flags, visit FH Foundation.


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