Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population. Curr Genomics. 2013 Mar;14(1):25-32 Authors: Jelassi A, Najah M, Slimani A, Jguirim I, Slimane MN, Varret M 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. PMID: 23997648 [PubMed]
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research