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Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population

[ Vol. 14 , Issue. 1 ]

Author(s):

Awatef Jelassi, Mohamed Najah, Afef Slimani, Imen Jguirim, Mohamed Naceur Slimane and Mathilde Varret   Pages 25 - 32 ( 8 )

Abstract:


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.

Keywords:

Autosomal dominant hypercholesterolemia, Screening protocol, Molecular default

Affiliation:

Research Unit of Genetic and Biologic Factors of Atherosclerosis, Faculty of Medicine, Monastir; Tunisia.



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