Familial hypercholesterolemia (FH) is a hereditary disorder affecting cholesterol metabolism, leading to elevated levels of LDL cholesterol, often referred to as 'bad cholesterol', from birth. This condition significantly raises the risk of cardiovascular events, necessitating timely medical intervention. The article emphasizes that children diagnosed with familial hypercholesterolemia should begin treatment at the age of eight to prevent serious cardiovascular issues, such as heart attacks, later in life.

Dr. Mafalda Bourbon, a researcher at the Instituto Nacional de Saúde Ricardo Jorge and the Institute of Biosystems and Integrative Sciences, highlights that familial hypercholesterolemia is often underdiagnosed due to its asymptomatic nature; it presents no visible symptoms that would prompt individuals to seek medical advice. This lack of awareness creates a missed opportunity for early identification and treatment, which are critical to overcoming the LDL receptor defect that prevents efficient cholesterol clearance from the arteries.

The article stresses the importance of raising awareness among clinicians and the general public to facilitate early diagnosis and enrich treatment protocols for familial hypercholesterolemia. By integrating improved screening measures that can identify at-risk individuals more effectively, the incidence of cardiovascular events associated with this condition can be substantially reduced, ultimately saving lives and improving long-term health outcomes.