When high cholesterol runs in the family..

A 3D illustration of a blood vessel showing plaque buildup, illustrating the effects of high cholesterol on artery health.

Familial High Cholesterol: An Overview

Familial high cholesterol stands out as the most prevalent inherited (autosomal dominant) disorder, impacting about one in every 300 individuals across the globe. The inherited version of high cholesterol occurs due to a genetic change that leads to impaired removal of bad cholesterol (LDL) from the blood, primarily caused by mutations in the LDL receptor gene.

Understanding Genes and Autosomal Dominance

Our genes act as blueprints, guiding our body to create proteins vital for essential bodily functions and serving as building blocks for our physical makeup. We inherit two versions of each blueprint, one from each parent. These genetic blueprints come together to form chromosomes, ultimately influencing our unique traits in conjunction with external factors.

In this dynamic duo of genes, one plays the role of the extroverted dominant, expressing itself as a continuous producer of protein building blocks for our body. Meanwhile, the other is a reserved introvert, biding its time in the background, waiting to be passed on to future generations.

The Impact of the Mutated Gene

Enter the mutated gene responsible for high cholesterol – a true dominator. When this gene is inherited, it can trigger the overaccumulation of harmful cholesterol, potentially wreaking havoc on the individual.

Health Risks Associated with Familial High Cholesterol

In the most prevalent version of this condition, the process of cholesterol plaque formation within arteries can kick off as early as 11 years old. Those grappling with this genetic trait may find themselves facing heart attacks, sudden death, or strokes during early middle age, or even in their 30s. Cholesterol deposits might even appear around the eyes or on tendons, but may not always be visible.

Screening Recommendations

So, who should be on the screening radar? Medical societies might not fully agree, but if someone in your family carries the weight of very high cholesterol or early onset heart disease, it’s wise to extend the search to all immediate family members, beginning as early as age 2.

From my standpoint as an adult cardiologist, I stand by the idea that all grown-ups should have their cholesterol levels assessed at least once annually – or even more frequently if treatment is in play.

Lifestyle Changes and Treatment Options

It is one instance where lifestyle tweaks might not cut it when it comes to slashing the risk of heart-related conditions. Medications could be the necessary lifeline to keep the situation in check.

Frequently Asked Questions (FAQ)

What is familial high cholesterol?

Familial high cholesterol is an inherited disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol due to mutations in the LDL receptor gene.

How common is familial high cholesterol?

It affects about one in every 300 individuals globally, making it the most prevalent inherited disorder.

At what age should screening begin?

Screening is recommended for immediate family members of individuals with very high cholesterol or early onset heart disease, starting as early as age 2.

Can lifestyle changes alone manage familial high cholesterol?

While lifestyle changes are important, medications are often necessary to effectively manage cholesterol levels in individuals with familial high cholesterol.

References

• Goldstein, J. L., & Brown, M. S. (2015). The LDL receptor. Annual Review of Biochemistry, 84, 113-134.

• Hobbs, H. H., Brown, M. S., & Goldstein, J. L. (1992). Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Human Mutation, 1(6), 445-466.

• Nordestgaard, B. G., & Chapman, M. J. (2013). Familial hypercholesterolaemia: a global perspective. Nature Reviews Cardiology, 10(4), 199-206.