CaRe high - Cascade screening and registry for high cholesterol in Germany

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Familial hypercholesterolemia (FH) is an inherited LDL metabolism disorder causing early cardiovascular disease (CVD).
• Germany has a significant unmet need, with an estimated 270,000 undiagnosed FH patients.
• Early diagnosis and treatment are crucial for mitigating FH-related CVD risk.

Purpose of the Study:

• To establish a comprehensive FH cascade screening program and patient registry in Germany.
• To address the gap in FH diagnosis and treatment within the German population.
• To leverage registry data for advancing diagnostic criteria and improving FH detection rates.

Main Methods:

• Physician and lipid clinic engagement to introduce cascade screening and registry protocols.
• Patient identification and data collection via medical history questionnaires.
• Inclusion criteria: LDL-C >190 mg/dl or total cholesterol >290 mg/dl, tendon xanthomas, or family history of hypercholesterolemia/early myocardial infarction.
• Family member contact and physician feedback on diagnosis and treatment options.
• Ethical approvals obtained for all German states.

Main Results:

• Physicians, lipid clinics, and patients from multiple German regions (Rhein-Neckar, Saarland, North-Rhine-Westphalia, Upper Bavaria, Bremen, Saxonia, Berlin) have joined the study.
• Anticipated enrollment of over 3000 patients within the next two years.

Conclusions:

• The project aims to enhance FH diagnosis and treatment through patient data collection and registry utilization.
• Registry data holds potential for refining diagnostic criteria for FH.
• Improved detection and management of FH are expected to reduce CVD incidence in affected individuals.