Résumé:
Familial hypercholesterolemia (FH) is caused by the presence of a (single) mutated allele (heterozygous state) of the LDLR genes, encoding the LDL receptor, APOB responsible for thebinding between LDL particles and their receptor or PCSK9 coding for the “Pro protein concertasse subtilisions /KEXINE type 9” which facilitates the degradation of receptorsto LDL) A single mutated allele contributes to a 50% reductio ipurificationliver of LDL lipoproteins, thereby producing LDL cholesterol (LDL-C) twice the usual rates since birth.Cholesterol is thus deposited in the arterial walls leading to complicationsearly cardiovascular disease. They also typically deposit in other tissuesproducing the appearance of corneal arches (resembling gerontoxons but at an age earlier) and tendinous xanthomas (nodules on the tendons of the hands oron the Achilles tendons. Given the autosomal dominant character of theTransmission of the disease, other family members present with .
Chart similar to patient In adults, it is possible to make the diagnosis with more certainty by taking into account Counts LDL-C levels, personal history and/or family history and Clinical signs that may be present in some HF patients
