Familial high cholesterol stands out as the most prevalent inherited (autosomal dominant) disorder, impacting about one in every 300 individuals across the globe.
Let's take a quick detour to understand genes and autosomal dominant better:
Our genes act as blueprints, guiding our body to create proteins vital for essential bodily functions and 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.
Enter the mutated gene responsible for high cholesterol – a true dominator. When this gene is inherited, it can trigger the overproduction of harmful cholesterol, potentially wreaking havoc on the individual.
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. Cholesterol deposits might even appear around the eyes or on tendons.
So, who should be on the screening radar?
Medical societies might not fully agree, but if someone in your family carries the weight of familial high cholesterol, 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.
This 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.
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