Due to the limited number of individuals with prothrombin deficiency worldwide, designing clinical trials evaluating diagnosis, bleeding tendency, and treatment remains a challenge. Investigations into novel laboratory methods to improve global assessment of hemostasis in RBDs have been performed, such as the use of thrombin generation (TG)43 and thromboelastography (TEG)44 for diagnosis and correlation to bleeding phenotype in comparison to current first tier labs of PT, PTT, and specific factor assays. In both of these studies, TG and TEG were shown to be potentially useful screening tests for diagnosis and predicting severe bleeding in RBDs. However, a very limited number of plasma samples from patients with prothrombin deficiency were included in these analyses. Prospective studies in a larger population of patients are necessary to validate these findings, especially in prothrombin deficiency.
International registries have been established and remain a critical resource to improve our knowledge of prothrombin deficiency and other rare bleeding disorders. National registries include the United Kingdom Haemophilia Centre Doctors’ Organization registry, the North American Rare Bleeding Disorders Registry, the Indian registry, and the European Network of Rare Bleeding Disorders.
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
