Work Package 3: P4 medicine for Familial Hypercholesterolemia

Vroni study for early detection and prevention of Familial Hypercholesterolemia

Familial Hypercholesterolemia (FH) is a congenital disorder of lipid metabolism, which is characterized by a marked increase of LDL cholesterol in blood plasma from childhood and by early manifestation of coronary heart disease (CHD). The FH is autosomal dominant inherited and is the most common monogenic inherited disease with an estimated prevalence of 1:250. Early diagnosis and therapy can reduce the risk of atherosclerosis and its comorbidities to the level of the general population, especially in heterozygous patients. In Germany, as in most European countries, there is currently no corresponding early detection screening program.

The Vroni study intends to offer all children in the Free State of Bavaria a screening test as part of the preliminary examinations U9 to J1 (5-14 years), or as part of any other visit to a pediatrician. After approval of the consent for blood sampling and subsequent genetic testing by the participants and/or parents or legal representatives, 200 µl of capillary blood are taken from the fingertip and the LDL cholesterol is measured at the German Heart Center Munich (DHM). For LDL-C values above the 95th percentile, molecular genetic testing and testing for FH at the Helmholtz Zentrum München (HMGU) will be carried out.

The Vroni participants' data is stored in a secure biobank and databank at the DHM, and made available to the DigiMed Bayern consortium via the IT infrastructure developed in the DigiMed Bayern project.

In the case of a positive test result, the pediatricians receive a research report in which only the result of the genetic analysis and the "high degree of suspicion of FH" are expressed, but no medical assessment of the analysis result in terms of a definitive medical diagnosis. The parents and their positively tested children are informed about the disease and connected to a regional pediatric cardiologist for further care. The supervising pediatric cardiologist asks the parents to have their cholesterol determined and to get advice from a qualified doctor. In addition, the FH-positive families and preventive children with high cholesterol levels are offered a special psycho-educational training program by the chair for social pediatrics at the Technical University of Munich.

Moreover, the Vroni study would like to contribute to an epidemiological study of patients with FH and their care. Based on the index patient (Vroni child), a reverse cascade screening is to be initiated by the affected families participating in the CaRe High Register study (Germany-wide FH register) in order to identify further relatives with FH.

The long-term goal of the Vroni study is to improve information, diagnostics and the treatment options for FH patients in Germany.

(updated: Dec. 2019)