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Rare bleeding disorders: diagnosis and treatment
Roberta Palla1, Flora Peyvandi1, Amy D Shapiro2
1A. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, and Luigi Villa Foundation, Milan, Italy;
Blood
|February 26, 2015
Summary
Rare bleeding disorders (RBDs) are underdiagnosed globally due to limited knowledge and resources. Advances in diagnostics and emerging therapies offer hope for improved patient outcomes and management.
Area of Science:
- Hematology
- Genetics
- Clinical Medicine
Background:
- Rare bleeding disorders (RBDs) present global health challenges due to suboptimal awareness and expertise among healthcare professionals.
- Limited commercial interest in RBDs results in a scarcity of specific therapies, leading to delayed diagnosis and inadequate treatment.
- Patients with RBDs frequently experience significant morbidity and mortality stemming from diagnostic delays and insufficient evaluation.
Purpose of the Study:
- To review recent advancements in the understanding, diagnosis, and treatment of rare bleeding disorders.
- To highlight the impact of improved diagnostic tools and emerging therapies on patient outcomes.
- To emphasize the importance of international collaboration in registries for correlating genetic and clinical data.
Main Methods:
- Review of current literature on rare bleeding disorders.
- Analysis of advancements in diagnostic technologies, including coagulation assays and genome sequencing.
- Examination of emerging therapeutic strategies, both recombinant and plasma-derived.
- Assessment of the role of international registries and clinical trials in improving patient care.
Main Results:
- Standardized coagulation assays, genome sequencing, and global clotting assays are crucial for enhancing RBD diagnosis.
- New recombinant and plasma-derived therapies are becoming available, particularly in developed nations.
- Clinical trials and registries demonstrate improved outcomes with accurate diagnosis and appropriate treatment.
- International registries are expanding to link genotype, laboratory findings, and clinical phenotypes for better management.
Conclusions:
- Improved diagnostic modalities are essential for timely identification of rare bleeding disorders.
- Emerging therapies and well-managed patient registries are critical for reducing morbidity and mortality.
- Harmonization of international efforts is key to advancing the diagnosis and treatment of RBDs globally.
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