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

作者：Jelassi Awatef^*; Najah Mohamed; Slimani Afef; Jguirim Imen; Slimane Mohamed Naceur; Varret Mathilde

来源：Current Genomics, 2013, 14(1): 25-32.

• Autosomal dominant hypercholesterolemia
• Screening protocol
• Molecular default

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. Received on: June 21, 2012-Revised on: November 02, 2012 - Accepted on: November 05, 2012

• 出版日期2013-3