Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.
Curr Genomics
; 14(1): 25-32, 2013 Mar.
Article
em En
| MEDLINE
| ID: mdl-23997648
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.
Texto completo:
1
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Screening_studies
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article