Rare Bleeding and Clotting Disorders
Special Edition of Haemophilia - November 2008
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. InforMEDical coordinated with authors identified by the subcommittee and journal Haemophilia to develop and submit manuscripts on 17 rare bleeding and coagulation disorders this publication, and coordinated with the NHF (www.hemophilia.org) and World Federation of Hemophlia (WFH; www.wfh.org) to post these papers as virtual resource rooms on their websites.
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).
The manuscripts were published as a peer-reviewed special issue to Haemophilia, Volume 14 Issue 6, pp 1151 – 1280, November 2008. The text above is modified from the Foreword for this special issue.
