Familial Hypercholesterolaemia

The goal of this clinical trial is to learn if a computer alert can aid clinicians in identifying patients with a genetic type of high cholesterol, called Familial Hypercholesterolemia. The main question it aims to answer is whether the computer alert increases recognition of this high cholesterol disorder.

SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.

TRAP-HC is a multicenter, observational, longitudinal, prospective study designed to evaluate real-world treatment patterns and lipid-lowering therapy (LLT) management in patients with hypercholesterolemia, including familial hypercholesterolemia (FH), who are at high, very high, or extreme cardiovascular risk. Approximately 2,500 adult patients will be enrolled across up to 15 Italian LIPIGEN network centers and followed for 12 months as part of routine clinical practice. The study aims to assess LDL-C goal attainment according to current European guidelines, evaluate changes in lipid profiles over time, and investigate treatment adherence, persistence, and therapeutic modifications in response to clinical needs. Data collected during routine visits will include lipid parameters, cardiovascular history, concomitant therapies, safety outcomes, and patient-reported adherence measures. By providing real-world evidence on the management of hypercholesterolemia in high-risk populations, the study seeks to identify current gaps between guideline recommendations and clinical practice and to support optimization of cardiovascular risk reduction strategies.

Children living with chronic health conditions face a higher risk of developing cardiovascular diseases than their peers, largely due to the accelerated aging of the heart and blood vessels. Although experts recognize this elevated risk and recommend close monitoring and early intervention, the underlying mechanisms driving this phenomenon remain poorly understood. At present, no effective interventions specifically target its root causes. Recent research shows that both large blood vessels (such as the carotid artery) and small vessels (such as those in the retina) can display early signs of damage decades before clinically apparent heart or vascular disease emerges. This accelerated vascular aging can result from multiple factors - including disease-related processes such as persistent inflammation and metabolic disturbances, treatment-related effects such as chemotherapy or long-term steroid use, and lifestyle changes associated with chronic illness, such as reduced physical activity and altered eating habits. However, it is still unclear how these factors influence the development and progression of vascular changes in children as they grow. Importantly, these changes can be monitored through non-invasive methods, offering a unique opportunity to study at-risk patients many years before overt cardiovascular disease develops. Identifying these early changes may enable us to detect and track individuals at heightened risk well in advance of clinical disease. This study aims to deepen our understanding of the causes of increased cardiovascular risk in children with chronic conditions and to lay the groundwork for earlier, more targeted prevention strategies.