TABLE OF CONTENTS
Volume 14 Issue 6, Pages 1151 - 1280 (November 2008)
In the United States, the definition of a rare disorder is one that affects fewer than 200,000 Americans. As such, hemophilia A and B qualify as rare disorders. Yet for individuals affected with even less common bleeding and clotting disorders, access to diagnostic and treatment services lags far behind. It is these very rare and heterogeneous disorders that are addressed in this special issue of Haemophilia
Due to the rarity of these disorders, affected individuals often experience delayed diagnosis due to lack of symptom recognition or difficulty obtaining appropriate laboratory evaluation. Importantly, the range and availability of specific therapeutic modalities to treat these disorders is limited, or even worse, non-existent. The knowledge base regarding the use of appropriate therapeutic modalities is sparse and often poorly described. Care is further confounded as individual care providers often have no prior experience treating these disorders. As a result, treatment is often inadequate with poor outcomes and no knowledge of methods to prevent morbidity and mortality.
The plight of patients affected with very rare bleeding and clotting disorders has become increasingly apparent to many physicians throughout the world. Major advances in the manufacture of safe and effective plasma-derived and recombinant products for hemophilia A and B in the last two decades have vastly improved the availability, care, and potential outcomes of individuals with these two disorders. In sharp contrast, patients with deficiencies of other coagulation factors comprise a very small potential market and hence have not been the focus of commercial product development efforts.
In some countries, national blood collection organizations have been charged with developing needed products, even when the small potential market portends an unprofitable venture. Patients residing in these countries represent the fortunate few. Once products are developed for specific rare populations, they are difficult to make available to other countries and markets due to manufacturing and clinical regulatory requirements. Recently, increased attention and efforts have focused on harmonizing regulatory requirements to reduce the burden to each country of developing sufficiently safe and accessible products for these patients.
In the United States, there has been a 10-year long study funded by the Centers for Disease Control and Prevention (CDC) called the Uniform Data Collection (UDC). The major focus until now of the UDC has been on enrolling patients with hemophilia A and B and von Willebrand disease. A new initiative has been undertaken to expand the database to enroll patients with rare bleeding disorders.
In parallel to these efforts, Dr. Flora Peyvandi, under the auspices of the International Society of Thrombosis and Haemostasis, has spearheaded the development of an international network of care providers to work together to discuss the prevalence, clinical manifestations, and need for coordinated and consistent data collection. The goal of this international community effort is to better identify the number of affected individuals throughout the world, to define the clinical manifestations and sequelae associated with these disorders, to create a network of individuals who care for these patients that are able to share diagnostic and treatment expertise, and to identify potential centers where specific products once developed may be utilized in clinical trials. Meanwhile, the European Network of rare Bleedings Disorders was established and funded by the European Community (http://ec.europa.eu/phea/documents/2006_Health_Information.pdf). This network initially will be comprised of ten European treatment centers and is intended to develop a new and homogeneous communications tool based on the RBDD for data input, management, editing and viewing information on rare bleeding disorder patients (www.rbdd.eu).
This special journal issue was conceived by a subcommittee appointed by the Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Foundation (NHF) in an effort to begin to address the needs of patients and their caregivers. It is hoped that this compendium of review articles will serve as a first line resource to care providers throughout the world. In an effort to make this material as widely and easily available as possible, the publishers of Haemophilia, Wiley-Blackwell, have graciously agreed to post the papers in this special edition on the websites of both the NHF (www.hemophilia.org) and the World Federation of Hemophilia (WFH; www.wfh.org). We thank Wiley-Blackwell for their vision and appreciation of the need to disseminate this information as widely as possible; we also thank both NHF and WFH for posting these papers on their respective websites. We also wish to thank the coordinating organization InforMedical for their excellent project management support.
This special issue is dedicated to the patients we care for with these very rare bleeding and clotting disorders. It is they who have brought these disorders and the need for improved diagnosis, care, and therapeutic modalities to the forefront with the hope that we may improve both the health and the quality of their lives.
Amy D. Shapiro, MD
Indiana Hemophilia & Thrombosis Center
Donna M. DiMichele MD
Professor of Pediatrics and Public Health
Weill Medical College of Cornell University
W. Keith Hoots, MD
Department of Pediatrics, University of Texas MD Anderson Cancer Center
Departments of Pediatrics and Internal Medicine, University of Texas Medical School at Houston
Marion A. Koerper MD
Director, Hemophilia Treatment Center
Clinical Professor of Pediatrics
UCSF School of Medicine
Marilyn J. Manco-Johnson, MD
Professor of Pediatrics
University of Colorado Denver and The Children’s Hospital
Diane J. Nugent, MD
Director of Hematology
Children’s Hospital of Orange County
Flora Peyvandi MD, PhD
Associate Professor of Internal Medicine
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center
University of Milan
Mark W. Skinner
World Federation of Hemophilia