Additional genetic testing or retesting in patients diagnosed with FH, treated properly still without sufficient required response and result in measured values and clinical symptoms could be recommended. Potential similarities between the patients in their phenotypes or genotypes can be found.
The proposal for cooperation between CSA and ExCEE Orphan is kind request for sponsorship of genetic retesting of HeFH patients. CSA will be inviting all MED PED centres to retest those patients as early as possible.
We are expecting 50 centres to participate with 3 patients and in case of need also family screening in particular patients would be provided. Totally we expect to retest 150 pts in first year and additionally approx. 50 pts in second year of the project.
The Project is already running since April 2025.
Authors: prof. MUDr. Vladimír Blaha, CSc., prof. MUDr. Tomáš Freiberger, Ph.D., prof. MUDr. Michal Vrablík, Ph.D.