title: Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.
abstract: Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic low-density 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.
authors.affiliation: Research Unit of Genetic and Biologic Factors of Atherosclerosis, Faculty of Medicine, Monastir; Tunisia.
authors.forename: Awatef
authors.initials: A
authors.lastname: Jelassi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Najah
authors.forename: Afef
authors.initials: A
authors.lastname: Slimani
authors.forename: Imen
authors.initials: I
authors.lastname: Jguirim
authors.forename: Mohamed Naceur
authors.initials: MN
authors.lastname: Slimane
authors.forename: Mathilde
authors.initials: M
authors.lastname: Varret
keywords: Autosomal dominant hypercholesterolemia; Molecular default.; Screening protocol