Special Issue

Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia

A Special Issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 15 Dec 2024

Guest Editor(s)

Mariko Harada-Shiba, Ph.D. M.D.
Professor, Cardiovascular Center, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Hayato Tada, PhD. M.D
Assistant Professor, Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.

Special Issue Introduction

Familial hypercholesterolemia (FH) is a genetic disease characterized by high levels of low-density lipoprotein (LDL) cholesterol, along with cutaneous and/or tendon xanthomas and premature coronary artery disease (CAD) due to atherosclerosis. FH is caused by pathogenic mutations in genes encoding LDL receptor, proprotein convertase subtilisin/kexin 9 (PCSK9), and apolipoprotein B. Individuals with heterozygous FH (HeFH) have mutations in one allele, while those with homozygous FH (HoFH) have mutations in two alleles. Diagnosis of FH is based on LDL-C levels, family history, presence of xanthomas, and genetic analysis. Treatment focuses on reducing LDL-C levels using statins and ezetimibe. Recently, molecular targeted therapies have been available, including PCSK9 inhibitors for both HeFH and HoFH, as well as MTP inhibitors and ANGPTL3 inhibitors for HoFH.

We welcome Original Research Articles, Review Articles, and Brief Communications on the following topics:
- Diagnosis and treatment of HeFH;
- Diagnosis and treatment of HoFH;
- Diagnosis and treatment of HeFH and HoFH in specific lesions;
- Diagnostic criteria for FH;
- Physical findings of FH;
- Registry of FH;
- Genetic analysis and prognosis of FH;
- Genetic counseling for FH;
- Imaging of atherosclerosis in FH;
- Strategies for targeting lipoprotein functions in FH;
- Polyvascular disease in FH;
- Valvular disease in FH;
- Impact of recent drug developments on FH prognosis;
- Awareness initiatives for FH;
- Development of novel therapeutic drugs.

Submission Deadline

15 Dec 2024

Submission Information

For Author Instructions, please refer to https://www.oaepublish.com/rdodj/author_instructions
For Online Submission, please login at https://oaemesas.com/login?JournalId=rdodj&IssueId=rdodj240709
Submission Deadline: 15 Dec 2024
Contacts: Stella Wang, Assistant Editor, assistant_editor@rdodjournal.com

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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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