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FH and high Lp(a) are underdiagnosed, undertreated, and life-threatening

Based on the Family Heart Foundation’s National Database, we estimate that between 15-20% of Americans with familial hypercholesterolemia (FH) have been diagnosed.

The situation is even worse for those with elevated lipoprotein (a), or Lp(a). Given that fewer than 1% of Americans have ever had their Lp(a) measured, it is safe to say elevated Lp(a) is also vastly underdiagnosed.

 

Why testing and diagnosis matters

When FH and high Lp(a) aren’t identified, people can’t get the early treatment they need. Untreated individuals with FH have up to a 20-fold increased lifetime risk of heart disease compared to the general population.

If they get early treatments, people with FH can bend their risk of cardiovascular disease down to the same as the general population.

 

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When it comes to Lp(a), one study found that people with extremely high levels (180 mg/dL and above or 430 nmol/L and above) have a similar risk of heart disease to that of someone with heterozygous FH.

FH is a common genetic disorder

FH occurs in 1 in 250 people around the world. It is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease. People with FH have a high amount of low-density lipoprotein (LDL) or “bad cholesterol” due to a mutation in one of the genes that controls the way cholesterol is cleared by the body. As a result, cholesterol accumulates in the bloodstream and can ultimately build up in the walls of the arteries. Cholesterol build-up in the artery wall is called hardening of the arteries, or atherosclerosis, and can lead to problems such as heart attacks and strokes in young adults and even children.

Elevated Lp(a) is a common genetic disorder

Lp(a) a very complex lipoprotein that appears to increase the risk for both heart disease and stroke. Elevated levels can be found in 1 in 5 people.

Lp(a) looks like LDL cholesterol with some key differences. LDL has a single apolipoprotein B attached to its surface. Lp(a), however, has an apolipoprotein B attached to its surface, and that apolipoprotein B has an apolipoprotein (a) attached to it. Lp(a) also contains oxidized phospholipids (OxPL).

Each of these components come together and results in a lipoprotein than can cause artery blockages, artery clogging, and inflammation.

How FH and high Lp(a) are related

Those with either FH or high Lp(a) have a significantly higher risk of developing heart disease than unaffected individuals. This is because of their lifetime exposure to LDL and Lp(a).

Recent data shows that FH accounts for roughly 13,000 myocardial infarctions (MI) in the United States each year. Insights from the Family Heart Foundation’s CASCADE FH® Registry suggests that over 25% of FH patients in the registry already have heart disease by the time they’re diagnosed with FH.

We also know that 30-50% of people with FH also have high Lp(a) – a genetic double whammy.

When you find an individual with FH or high Lp(a), you find a family. And the sooner the family knows, the sooner they can take steps to lower their risks.