“
“von Willebrand’s disease (VWD) is probably the most common bleeding disorder, with some studies indicating that up to 1% of the population may have the condition. Over recent years interest in

VWD has fallen compared to that of haemophilia, partly the result of focus on blood-borne diseases such as HIV and hepatitis. Now the time has come to revisit VWD, and in view of this some 60 international physicians with clinical and scientific interest in VWD met over 4 days in 2010 in the Åland islands to discuss state-of-the-art issues in the disease. PS-341 datasheet The Åland islands are where Erik von Willebrand had first observed a bleeding disorder in a number of members of a family from Föglö, and 2010 was also the 140th anniversary of his birth. This report summarizes the main papers presented at the symposium; topics ranged from genetics and biochemistry through to classification of VWD, pharmacokinetics and laboratory assays used in the diagnosis of the disease,

inhibitors, treatment guidelines in different age groups including the elderly who often have comorbid conditions that present challenges, and prophylaxis. Other topics included managing surgeries in patients with VWD and the role of FVIII in VWF replacement, a controversial subject. “
“Summary.  Rare bleeding disorders (RBDs) include the inherited deficiencies of fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. There have been remarkable advances in understanding

the molecular profiles that lead to each type of coagulation factor deficiency. AZD8055 Avelestat (AZD9668) However, as a consequence of their rarity, clinical data regarding the characteristics of bleeding symptoms and their management remain limited. The clinical manifestations in different RBDs are heterogeneous, and the residual plasma coagulant factor level does not always predict bleeding tendency. In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies. Rare bleeding disorders (RBDs) represent 3% to 5% of all inherited coagulation deficiencies, and are usually transmitted as autosomal recessive traits [1,2]. They include inherited deficiencies of fibrinogen, factor (F) II, FV, FVII, FX, FXI, FXIII and combined FV and FVIII deficiencies (FV+VIII). Globally, RBDs have a variable distribution with a prevalence ranging from approximately 1 in 2 million for FII and FXIII deficiencies to 1 in 500,000 for FVII deficiency [1–4]. Despite their rarity, RBDs have been gaining increasing attention in both developing and developed countries where numbers continue to increase due to an expanding immigrant population. Due to the low prevalence of RBDs, data on the genetic, laboratory, and clinical characteristics of these disorders have been limited [5]. Scientific reports were usually limited to small groups of patients or even single cases.