Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity
lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is
largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or
the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease
progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements
and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated
phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol
is necessary for this population.