EHA Library - The official digital education library of European Hematology Association (EHA)

Rare bleeding disorders - Diagnosis and treatment
EHA Library. Kenet G. 06/14/17; 185036 Topic: 6Bc Other clotting factor disorders
Prof. Gili Kenet
Prof. Gili Kenet
Contributions
Learning Objectives
Flora Peyvandi - Chair Introduction

Disseminated intravascular coagulation (DIC) is an acquired syndrome caused by infectious and non-infectious insults. The main pathophysiological mechanisms of DIC are inflammatory cytokine-initiated activation of tissue factor-dependent coagulation, insufficient control of anticoagulant pathways and plasminogen activator inhibitor 1-mediated suppression of fibrinolysis. Together, these alterations lead to endothelial dysfunction and microvascular thrombosis, causing organ dysfunction. Dr. Squizzato will describe the diagnosis and management of such a hyperfibrinolytic disorder. In the second chapter Dr. Kenet will describe how to diagnose and manage patients with Rare Bleeding Disorders (RBDs), a heterogeneous group of coagulation disorders characterized by fibrinogen, prothrombin, factors V, VII, X, XI, or XIII, and the combined factor V + VIII and vitamin K-dependent proteins deficiencies, representing roughly 5% of all bleeding disorders. Patients affected with RBDs may present a wide range of clinical symptoms, varying from mucocutaneous bleeding, to the most life-threatening symptoms such as central nervous system and gastrointestinal bleeding. Treatment of these disorders is mainly based on the replacement of the deficient factor, using specific plasma-derived or recombinant products when is available. Dr. Whyte and dr. Mutch will discuss biological and clinical relevance of fibrin clot structure. The structure and function of the blood clot has been associated with altered risk of thrombosis. Dense fibrin structures with small pores increase the risk of thrombosis, and have major functional consequences by increasing the resistance to fibrinolysis and altering the visco-elastic properties of the clot.

Learning Objectives of the manuscript
After viewing this presentation the participant will be able to:
- Patients with disseminated intravascular coagulation may present with bleeding, organ dysfunction, thrombosis of large vessels, or can be totally asymptomatic despite laboratory test abnormalities
- Recommendations for hemostasis control include mainly replacement of the missing coagulation factors (unless presence of inhibitors renders it impossible)
- The composition of a thrombus is fundamental to its stability against mechanical and fibrinolytic degradation. The nature of the fibrin network is altered by numerous factors and clots generated in distinct parts of the vasculature have different cellular compositions and fibrin mesh.

Learning Objectives of the presentation
After viewing this presentation the participant will be able to:
- Describe the epidemiology, symptoms and diagnosis of patients with rare bleeding disorders.
- Discuss current and emerging treatment options, including non- replacement therapy.

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