High cholesterol, often unnoticed, can be a major health concern, usually ignored until it results in stroke or heart attack. It's important to recognize that even people under 55 can be affected, especially if they have had high cholesterol since birth, underscoring the importance of early detection and treatment.

This condition is known as familial hypercholesterolemia (FH), an inherited disorder resulting from faulty genes. FH leads to exceptionally high cholesterol levels, irrespective of other risk factors. Consequently, cholesterol starts accumulating in the walls of the arteries and veins from a young age, significantly narrowing these passages and dramatically increasing the risk of early heart attacks or strokes.

However, age, gender, and ethnicity are factors beyond your control that impact cholesterol levels. Cholesterol tends to rise with age, and men are more susceptible to high cholesterol. Certain ethnic backgrounds, like South Asians, are more at an increased risk of FH.

What Are The Initial Indications of FH?

Recognizing FH's early signs is crucial. These include a family history of heart problems and the development of fatty deposits called xanthomas under the skin, often around tendons in the hands, knees, elbows, and near the eyes. If heart disease runs in your family, it's essential to get regularly checked, as a simple blood test called a lipid panel can reveal your cholesterol levels. Having high cholesterol at a young age is a warning sign for FH. If your doctor suspects FH, genetic testing can confirm the diagnosis, which is vital to reduce the risk of cardiovascular disease.

Treating High Cholesterol From Genetic Causes

Effective management of genetically driven high cholesterol, especially in FH, involves several approaches:

Lifestyle Measures: Emphasizing a low-fat diet, regular exercise, and weight management is essential. However, FH individuals may still struggle to control cholesterol due to genetic factors.

Medications: Cholesterol-lowering medications are the primary treatment for FH, significantly lowering LDL cholesterol levels. They work by blocking cholesterol production in the liver and enhancing removal from the bloodstream, reducing LDL cholesterol by 50% or more.

Severe FH Cases: In extreme situations, especially when FH is inherited from both parents, LDL apheresis may be necessary. This procedure cleanses the blood by removing bad cholesterol and returning "cleaned" blood to the body, often performed multiple times monthly to maintain cholesterol levels.

Passing FH to the Next Generation

Regarding passing FH to the next generation, if you inherited FH from one parent, there's a higher chance you'll pass it on to your children. If both of your parents had FH, your children have a 100% chance of inheriting it. Testing children early with a family history of FH and initiating cholesterol-lowering medication for those with the condition is essential for their well-being.