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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.

SUBMITTER: Jelassi A

PROVIDER: S-EPMC3580777 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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

Jelassi Awatef A Najah Mohamed M Slimani Afef A Jguirim Imen I Slimane Mohamed Naceur MN Varret Mathilde M

Current genomics 20130301 1

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. Therefor ...[more]

PMID: 23997648

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