Von Willebrand Disease: the Under-the-Radar Bleeding Disorder

Constant nosebleeds, persistent bruising and super-heavy periods are signs you shouldn ’t dismiss.
Source: U.S. News - Health - Category: Consumer Health News Authors: Source Type: news

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derici AB Abstract BACKGROUND: There is a lack of prospective clinical trials specifically designed to evaluate the benefits of prophylaxis with vWF/FVIII concentrates in patients with inherited von Willebrand disease (vWD). The aim of the study was to compare efficacy of secondary long-term prophylaxis (PRO) with vWF/FVIII in the prevention of bleeding episodes in severe vWD patients to standard of care (on-demand treatment; ODT). MATERIALS AND METHODS: In this 12-month, phase III, open-label study (PRO.WILL), vWD patients (aged ≥6 years) were randomised to PRO (n=9; 5 completed) or ODT (n=10; 7 completed...
Source: Blood Transfusion - Category: Hematology Authors: Tags: Blood Transfus Source Type: research
​Tranexamic acid (TXA) was invented by a Japanese husband-and-wife research team in the 1960s. Years earlier, this same research team had discovered epsilon-aminocaproic acid, a derivative and an analogue of the amino acid lysine. In their search for a more potent antifibrinolytic agent, they discovered tranexamic acid, a synthetic analog of the amino acid lysine. Tranexamic acid is eight to 10 times more powerful than epsilon-aminocaproic acid.The antifibrinolytic actions of TXA result from the binding of four or five lysine receptor sites on plasminogen. This binding prevents plasmin from binding to and degrading fibri...
Source: M2E Too! Mellick's Multimedia EduBlog - Category: Emergency Medicine Tags: Blog Posts Source Type: blogs
We report the case of a 34 year old woman with severe menorrhagia and a childhood diagnosis from another centre of Von Willebrand Disease. She had an extensive bleeding history, with epistaxis, menorrhagia and postoperative bleeding requiring multiple previous transfusions.
Source: Transfusion and Apheresis Science - Category: Hematology Authors: Source Type: research
Introduction:Platelet storage pool deficiency (PSPD) is a disorder of platelet dysfunction with a varying degree of bleeding severity that can range from no symptoms to severe bleeding with hemostatic challenges. The true incidence of the disorder is unknown; however, some believe that it could be as common as von Willebrand disease (vWD). The current standard for diagnosis of PSPD is platelet electron microscopy (EM). However, there is a lack of standardization of techniques and reference ranges. In addition, some experts debate the clinical significance of the diagnosis based on the abnormal platelet EM finding alone. Av...
Source: Blood - Category: Hematology Authors: Tags: 311. Disorders of Platelet Number or Function: Poster I Source Type: research
Conclusion:We have identified two novel variants in the P2YR12 gene with pathogenic predictions in a compound heterozygous state in twin brothers suffering from a chronic bleeding disorder. Flow cytometry analyses (fibrinogen binding) and VASP analyses are valuable tools to diagnose a platelet ADP-receptor defect.TableDisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 311. Disorders of Platelet Number or Function: Poster I Source Type: research
CONCLUSIONThe c.1621A>T (p.Thr541Ser) variant which occurs in exon 11 of the FVIII gene, has been is known to cause mild hemophilia A. The Thr541Ser substitution is rare and is present in ~0.009% of the NHLBI exome sequencing project. This is a unique case series of siblings with a rare mutation having normal Factor VIII levels and grandfather with similar mutation who was eventually also diagnosed with mild hemophilia A. The underlying gene mutation is an important but not sole determinant of residual FVIII:C in hemophilia A patients. As our understanding of pathophysiologic process of causative genetic event and basel...
Source: Blood - Category: Hematology Authors: Tags: 321. Blood Coagulation and Fibrinolytic Factors Source Type: research
Type I von Willebrand disease (VWD) is the most frequent bleeding disorder, with a prevalence of 10-50 cases per 10,000 persons. VWD usually shows an autosomal dominant inheritance pattern, at least in families having VWF:Ag levels below 30 IU/dL. There is considerable uncertainty whether patients having only mildly reduced VWF levels (in the range 30-50 IU/dL) should be diagnosed as having VWD or if they should be considered as a separate clinical entity, broadly referred to as "reduced VWF patients." We hypothesize that these patients may have a clinically distinct bleeding pattern, in terms of presenting sympt...
Source: Blood - Category: Hematology Authors: Tags: 322. Disorders of Coagulation or Fibrinolysis: Poster I Source Type: research
Conclusions: After normalization to time of exposure, TEAEs occuring more frequently in the caplacizumab group were epistaxis and gingival bleeding, while TTP, hypokalemia, contusion, rash, imsomnia and hypertension occurred more frequently in the placebo group. This post-hoc analysis confirms the overall good tolerability of caplacizumab for the treatment of aTTP with mucocutaneous bleeding being the most relevant risk, consistent with the mechanism of action of this drug.DisclosuresKremer Hovinga: Shire: Other: Member of Advisory Board, Research Funding; Ablynx: Other: Member of Advisory Board. Scully: Novartis: Honorari...
Source: Blood - Category: Hematology Authors: Tags: 311. Disorders of Platelet Number or Function: Poster III Source Type: research
Patients with type 3 von Willebrand Disease (VWD) usually have markedly reduced FVIII/VWF levels and very severe bleeding manifestations but, because of their rarity, their bleeding phenotype is poorly described. We aimed at evaluating the distribution of bleeding symptoms in patients with type 3 VWD, comparing them with previously available data from a cohort of type 1 patients, and describing site-specific clustering of bleeding symptoms in these patients. We analyzed clinical data from the type 3 Von Willebrand International RegistrieS Inhibitor Prospective Study (3WINTERS-IPS), a no-profit, investigators initiated, mul...
Source: Blood - Category: Hematology Authors: Tags: 322. Disorders of Coagulation or Fibrinolysis: Poster II Source Type: research
Type 3 von Willebrand Disease (VWD) is a rare and severe form of VWD characterized by complete absence of von Willebrand factor (VWF). Patients with type 3 VWD typically present with moderate to severe mucocutaneous bleeding as well as muscle hematomas and hemarthroses. While inheritance has classically been considered autosomal recessive, there is increasing evidence for co-dominant inheritance, with heterozygous carriers affected with low VWF levels.We sought to explore the bleeding phenotype in type 3 index cases (IC) and family members (FM) enrolled in the Zimmerman Program study using the ISTH bleeding assessment tool...
Source: Blood - Category: Hematology Authors: Tags: 322. Disorders of Coagulation or Fibrinolysis: Poster II Source Type: research
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