Rare Inherited Coagulation Disorders

Inherited deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders. Rare bleeding disorders (RBDs), discussed in this chapter, represent 3-5% of all the inherited coagulation deficiencies, with prevalence ranging from approximately 1:500,000 to 1:2,000,000 in the general population. Patients affected with bleeding disorders present a wide spectrum of clinical symptoms that vary from a mild or moderate bleeding tendency to significant life-endangering episodes, often unprovoked. Due to their rarity, little information is available on the appropriate management of patients with these disorders. In addition, the technical limitations of laboratory testing and the lack of a definitive consensus concerning their classification have not yet made it possible to adopt a proper approach to their individual management. To overcome these limitations, new strategies are, therefore, needed, such as the creation of global partnerships and networking between haemophilia treatment centres, and increasing the support provided by public health organizations.