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
Current Genomics
Title:Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population
Volume: 14 Issue: 1
Author(s): Awatef Jelassi, Mohamed Najah, Afef Slimani, Imen Jguirim, Mohamed Naceur Slimane and Mathilde Varret
Affiliation:
Keywords: Autosomal dominant hypercholesterolemia, Screening protocol, Molecular default
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.
Export Options
About this article
Cite this article as:
Jelassi Awatef, Najah Mohamed, Slimani Afef, Jguirim Imen, Naceur Slimane Mohamed and Varret Mathilde, Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population, Current Genomics 2013; 14 (1) . https://dx.doi.org/10.2174/138920213804999200
DOI https://dx.doi.org/10.2174/138920213804999200 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
The Challenges of RSV Vaccines. Where do we Stand?
Recent Patents on Anti-Infective Drug Discovery Evaluation of Clinical Efficacy of Fasudil for the Treatment of Pulmonary Arterial Hypertension
Recent Patents on Cardiovascular Drug Discovery Coronary Pressure Measurement Based Decision Making for Percutaneous Coronary Intervention
Current Cardiology Reviews Neonatal Ultrasound in Transport
Current Pediatric Reviews Transient Receptor Potential (TRP) Cation Channels in Diabetes
Current Topics in Medicinal Chemistry Oxidative Stress and Pathophysiology of Ischemic Stroke: Novel Therapeutic Opportunities
CNS & Neurological Disorders - Drug Targets The Co-Metabolism within the Gut-Brain Metabolic Interaction: Potential Targets for Drug Treatment and Design
CNS & Neurological Disorders - Drug Targets Nitric Oxide: News from Stem Cells to Platelets
Current Medicinal Chemistry Overcoming Barriers to Evidence-Based Diabetes Care
Current Diabetes Reviews Role of Asymmetric Dimethylarginine (ADMA) in Diabetic Vascular Complications
Current Pharmaceutical Design NTproBNP: An Important Biomarker in Cardiac Diseases
Current Topics in Medicinal Chemistry Induced Pluripotent Stem Cells as a Model for Accelerated Patient- and Disease-specific Drug Discovery
Current Medicinal Chemistry Premature Ovarian Insufficiency and Long-Term Health Consequences
Current Vascular Pharmacology Phenolic Compounds as Nutraceuticals or Functional Food Ingredients
Current Pharmaceutical Design Thymosin β4 Protein Therapy for Cardiac Repair
Current Pharmaceutical Design Anti-Inflammatory Responses of Resveratrol
Inflammation & Allergy - Drug Targets (Discontinued) Adiposity and Alzheimers Disease
Current Alzheimer Research PUFA Supplements and Type 2 Diabetes in the Elderly
Current Pharmaceutical Design Exercise-Induced Pulmonary Edema in Athletes
Current Respiratory Medicine Reviews Virus-Associated Vasculitides: An Update
Current Immunology Reviews (Discontinued)