Describe genetic data correlated to phenotype: what is the effect of a particular genotype on phenotype expression and which factors are responsible for different clinical manifestations in the same mutation carriers? How differs genetic heterogeneity in different geographical areas? Does lipid-lowering therapy work equally well in all genotype subgroups, e.g. does a statin reduce LDL-cholesterol more in def/def versus def/null?

To investigate the availability, accessibility, costs, and the use of LLT around the world, with a specific focus on the differences between high-income and low-income countries, and to examine how information or advice about family planning aspects is provided to HoFH patients.

To investigate to that extent the known risk factors for developing/ worsening cardiovascular disease (i.e. hypertension, DM, CKD, smoking, obesity etc.) in HoFH affect developing major adverse cardiovascular events (MACE), defined as a composite of cardiovascular death, non-fatal myocardial infarction, percutaneous coronary intervention (PCI), and coronary artery bypass grafting (CABG).

To investigate the influence of family planning on HoFH and vice versa, e.g. in terms of family planning advice, treatment during pregnancy, number of children, etc.