… discover additional genetic loci associated with extreme hypercholesterolemia using known
… genetic determinants, differential diagnosis, genetic testing, and counseling of FH genetics. …

Familial hypercholesterolemia (FH) is one of the most common monogenic diseases, leading
to an increased risk of premature atherosclerosis and its cardiovascular complications due …

… Familial hypercholesterolemia (FH) results in very high levels of atherogenic low-density
lipoprotein (LDL) cholesterol from the time of birth. Mutations of the genes encoding for the LDL …

… (A) The index patient in this family (arrow) is a child with a clinical phenotype of
homozygous familial hypercholesterolemia. The dark half-filled symbols indicate individuals …

… Only few countries currently have national genetic screening programs for FH. … diagnose
familial hypercholesterolemia. In table 1, we suggest a distinction in the clinical versus genetic …

… familial hypercholesterolemia (FH) phenotype. We now know that autosomal dominant
monogenic FH can be caused by pathogenic variants of three additional genes (… of all four genes, …

… The object of this review is to update the status of familial hypercholesterolemia (FH,
MIMN#143890), with special consideration on the genetics and diagnosis. Heterozygous FH (heFH) …

… The following section deals with genetic risk assessment and the use of family history
and genetic testing to clarify genetic status for family members; it is not meant to address all …

… Familial hypercholesterolemia (FH) is the most frequent genetic disease and is characterized
by … Genetic causes of familial hypercholesterolemia and other diseases consisting in high …

… Mutations disrupting the function of this receptor produce autosomal dominant familial
hypercholesterolemia (FH). Affected individuals have elevated plasma levels of LDL, which …