Current Research

APOE and familial hypercholesterolemia

This research is crucial because it identifies a new genetic mutation, p.(Leu167del) in the APOE gene, as a significant contributor to hypercholesterolemia, a major risk factor for cardiovascular disease. Recognizing this mutation expands the scope of genetic diagnosis and potentially improves treatment outcomes for individuals with familial hypercholesterolemia.

  • Current Opinion in Lipidology
  • August 2024
Read More

Familial hypercholesterolemia-Plus: is the metabolic syndrome changing the clinical picture of familial hypercholesterolemia?

Recent studies show that familial hypercholesterolemia, typically causing high LDL cholesterol and cardiovascular risk, is now often accompanied by high rates of diabetes and obesity in diverse populations. This combination significantly amplifies cardiovascular risk, necessitating more aggressive treatment strategies.

  • Current Opinion in Lipidology
  • August 2024
Read More

Case report of familial hypercholesterolemia with internal carotid neck swelling

This case underscores the critical importance of proactive genetic screening for familial hypercholesterolemia, particularly in consanguineous marriages. Early diagnosis and treatment can prevent severe complications such as premature coronary artery disease, highlighting the need for vigilant monitoring and intervention in affected individuals.

  • Journal of Family Medicine and Primary Care
  • January 2025
Read More

Impact of Bempedoic Acid on Cardiovascular Outcomes by Sex

The CLEAR Outcomes trial demonstrated that bempedoic acid significantly reduced major adverse cardiovascular events in patients unable or unwilling to take statins, with notable efficacy in both men and women. The trial included 48% female subjects, providing valuable insights into cardiovascular risk reduction across sexes.

  • Circulation
  • April 2024
Read More

Impact of the COVID-19 Pandemic on Conduct and Results of CLEAR Outcomes Trial

The CLEAR Outcomes trial found that bempedoic acid reduced the risk of major adverse cardiovascular events by 13% in statin-intolerant patients. The trial continued throughout the COVID-19 pandemic, which may have affected certain endpoints, particularly the classification of undetermined deaths as cardiovascular deaths.

  • Clinical Cardiology
  • July 2024
Read More

Diagnosis & Treatment

Implementation science and genetic testing for familial hypercholesterolemia

This research highlights the underutilization of genetic testing in diagnosing familial hypercholesterolemia, a treatable genetic disorder. By applying implementation science, the study aims to bridge the gap between evidence and practice, improving the detection and care of familial hypercholesterolemia, ultimately preventing premature heart disease.

  • Current Opinion in Lipidology
  • April 2025
Read More

Predictors of cardiovascular risk in familial hypercholesterolemia

Recent studies highlight the need to stratify cardiovascular risk among people with familial hypercholesterolemia, as the occurrence of atherosclerotic cardiovascular disease varies widely within this population. The development of a universal tool to identify high-risk patients for intensive cholesterol-lowering therapies is essential to better manage their cardiovascular health.

  • Current Opinion in Endocrinology & Diabetes and Obesity
  • October 2024
Read More

Coronary artery event-free or resilient familial hypercholesterolemia: what’s in a name?

This research identifies a subset of heterozygous familial hypercholesterolemia (HeFH) patients, termed resilient FH, who do not experience atherosclerotic cardiovascular disease (ASCVD) despite high LDL-C levels. Understanding the factors contributing to this resilience could enhance risk stratification and management for FH patients and inform broader strategies for preventing ASCVD in the general population.

  • Current Opinion in Endocrinology & Diabetes and Obesity
  • April 2025
Read More

Psychological determinants and evidence-based behavior change interventions in adherence to therapy for familial hypercholesterolemia

This research emphasizes the need for theory-based psychological determinants to improve adherence to familial hypercholesterolemia therapies. By understanding and targeting these determinants, interventions can be more effective, ultimately reducing the risk of premature atherosclerotic cardiovascular disease in patients.

  • Current Opinion in Endocrinology & Diabetes and Obesity
  • April 2025
Read More