Patient experience survey on the impact of an ultra-rare disease (Familial chylomicronemia syndrome) caused by severe genetic hypercholesterolemia for healthcare professionals and public authorities (ANSM, HAS)


  • Understand the epidemiology of the disease, current diagnosis and therapeutic practice in management of the FCS (from diagnosis to treatment)
  • Assess the medical impact of the disease on the quality of life by comparing monogenic homozygotes or compound heterozygotes called FCS vs oligo or polygenic forms called MCS


6 months (from the beginning of the survey to the final report)


  • In the first instance, all French hospitals with a capacity of 300 inpatient beds or more have been sounded out in order to evaluate the total population (average participation rate: 94%) 
  • Secondly, a patient survey has been carried out by mail and internet (survey population: all identified patients)


  • Exceptionally high participation rate (every other identified patient replied)
  • Statistical demonstration of the impact of the disease in absence of therapy and demonstration of the unmet medical need in terms of treatment and support
  • Promotion of patient voice
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