What is the most common inherited hyperlipoproteinemia with a frequency of 1 in 500?

Familial hypercholesterolemia is recognized as the most prevalent inherited hyperlipoproteinemia, with an occurrence of approximately 1 in 500 individuals. This condition results from mutations in the gene responsible for encoding the low-density lipoprotein (LDL) receptor. The impaired receptor function leads to elevated levels of LDL cholesterol in the bloodstream, thereby increasing the risk of premature atherosclerosis and cardiovascular disease.

The characteristic features of familial hypercholesterolemia include significantly high levels of total cholesterol and LDL cholesterol, often starting from a young age. Patients may also exhibit physical manifestations such as xanthomas (cholesterol deposits in the skin or tendons) and corneal arcus (cholesterol deposits in the cornea).

Understanding the pathophysiology of familial hypercholesterolemia is crucial in guiding treatment and management strategies, which often involve lifestyle changes and lipid-lowering medications. The recognition of familial hypercholesterolemia's high frequency underscores the importance of genetic screenings and familial risk assessments in clinical practice, allowing for early intervention and prevention of cardiovascular complications.