Abstract
In the last years, the understanding of HHT has greatly progressed. The two genes for most on cromosomes 9 and 12 have been discovered and the existence of a third involved gene has been predicted. Recent progress in the field of genetics has allowed the identification of many gene mutation thus facilitating the characterisation of the at risk members of the same family. Complications from bleeding or shunting (pulmonary AVMs) may be sudden and life-threatening (hemothorax, haemoptysis, stroke and brain abscess). Catastrophic events are preventable by early diagnosis and treatment. Appropriate screening programmes are mandatory and multi-specialistic cooperation is needed. Special centers have been developed in the world, where physicians, who are specialised and trained in all aspects of HHT, are working to develop better therapeutic approaches for the disease and to locate new genes in view of the future potential of gene therapy for this condition.
Keywords: Rendu-Osler-Weber, hereditary hemorrhagic telangiectasia, systemic vascular dysplasia, multidisciplinary approach
Current Pharmaceutical Design
Title: The Need for an Interdisciplinary Network of Investigations on HHT
Volume: 12 Issue: 10
Author(s): G. Pasculli, G. Sallustio and C. Sabba
Affiliation:
Keywords: Rendu-Osler-Weber, hereditary hemorrhagic telangiectasia, systemic vascular dysplasia, multidisciplinary approach
Abstract: In the last years, the understanding of HHT has greatly progressed. The two genes for most on cromosomes 9 and 12 have been discovered and the existence of a third involved gene has been predicted. Recent progress in the field of genetics has allowed the identification of many gene mutation thus facilitating the characterisation of the at risk members of the same family. Complications from bleeding or shunting (pulmonary AVMs) may be sudden and life-threatening (hemothorax, haemoptysis, stroke and brain abscess). Catastrophic events are preventable by early diagnosis and treatment. Appropriate screening programmes are mandatory and multi-specialistic cooperation is needed. Special centers have been developed in the world, where physicians, who are specialised and trained in all aspects of HHT, are working to develop better therapeutic approaches for the disease and to locate new genes in view of the future potential of gene therapy for this condition.
Export Options
About this article
Cite this article as:
Pasculli G., Sallustio G. and Sabba C., The Need for an Interdisciplinary Network of Investigations on HHT, Current Pharmaceutical Design 2006; 12 (10) . https://dx.doi.org/10.2174/138161206776361327
DOI https://dx.doi.org/10.2174/138161206776361327 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
Call for Papers in Thematic Issues
"Tuberculosis Prevention, Diagnosis and Drug Discovery"
The Nobel Prize-winning discoveries of Mycobacterium tuberculosis and streptomycin have enabled an appropriate diagnosis and an effective treatment of tuberculosis (TB). Since then, many newer diagnosis methods and drugs have been saving millions of lives. Despite advances in the past, TB is still a leading cause of infectious disease mortality ...read more
Current Pharmaceutical challenges in the treatment and diagnosis of neurological dysfunctions
Neurological dysfunctions (MND, ALS, MS, PD, AD, HD, ALS, Autism, OCD etc..) present significant challenges in both diagnosis and treatment, often necessitating innovative approaches and therapeutic interventions. This thematic issue aims to explore the current pharmaceutical landscape surrounding neurological disorders, shedding light on the challenges faced by researchers, clinicians, and ...read more
Emerging and re-emerging diseases
Faced with a possible endemic situation of COVID-19, the world has experienced two important phenomena, the emergence of new infectious diseases and/or the resurgence of previously eradicated infectious diseases. Furthermore, the geographic distribution of such diseases has also undergone changes. This context, in turn, may have a strong relationship with ...read more
Melanoma and Non-Melanoma Skin Cancer Treatment: Standard of Care and Recent Advances
In this thematic issue, we aim to provide a standard of care of the diagnosis and treatment of melanoma and non-melanoma skin cancer. The editor will invite authors from different countries who will write review articles of melanoma and non-melanoma skin cancers. The Diagnosis, Staging, Surgical Treatment, Non-Surgical Treatment all ...read more
- 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
-
Use of Mesenchymal Stem Cells in Crohn's Disease and Perianal Fistulas:
A Narrative Review
Current Stem Cell Research & Therapy Interrelationship Between Periapical Lesion and Systemic Metabolic Disorders
Current Pharmaceutical Design A Pharmacological Review of Five Widely Used Traditional Medicinal Plants for Sedative-Hypnotic Effects in Bangladesh
Current Traditional Medicine Biological and Pharmacological Activities of Iridoids: Recent Developments
Mini-Reviews in Medicinal Chemistry Anti-Respiratory Syncytial Virus Mechanism of <i>Houttuynia cordata</i> Thunb Exploration based on Network Pharmacology
Combinatorial Chemistry & High Throughput Screening Application of NMR Spectroscopy in Medicinal Chemistry and Drug Discovery
Current Topics in Medicinal Chemistry Macrophage-Assisted Inflammation and Pharmacological Regulation of the Cholinergic Anti-Inflammatory Pathway
Current Medicinal Chemistry Anti-Inflammatory Iridoids of Botanical Origin
Current Medicinal Chemistry Effects of Maternal Obesity on Maternal and Fetal Health
Current Women`s Health Reviews Targeting Drugs Against Fibroblast Growth Factor(s)-Induced Cell Signaling
Current Drug Targets The role of interleukin 35 in atherosclerosis
Current Pharmaceutical Design Application of NMR Metabolomics to Search for Human Disease Biomarkers
Combinatorial Chemistry & High Throughput Screening Aquaporin and Blood Brain Barrier
Current Neuropharmacology Clinical and Imaging Findings in the Alveolar Echinococcosis
Current Medical Imaging Clinical and Forensic Signs Related to Opioids Abuse
Current Drug Abuse Reviews Immunopathology of Brucella Infection
Recent Patents on Anti-Infective Drug Discovery Ghrelin: New Insight to Mechanisms and Treatment of Postoperative Gastric Ileus
Current Pharmaceutical Design The FDG-PET Revolution of Medical Imaging – Four Decades and Beyond
Current Molecular Imaging (Discontinued) Pharmacokinetic Mechanisms for Reduced Toxicity of Irinotecan by Coadministered Thalidomide
Current Drug Metabolism Drug Targets from Human Pathogenic Amoebas: Entamoeba histolytica,Acanthamoeba polyphaga and Naegleria fowleri
Infectious Disorders - Drug Targets