The history of women and hemophilia: a narrative review of evolving beliefs and testing practices.

The history of hemophilia is well-documented, yet reports focus heavily on the male-perspective and severe forms of the disease. Although hemophilia was initially believed to only affect men with women seen as silent carriers, it is now universally acknowledged that women and girls can also be affected. In this narrative review, we track the progression of beliefs about women and hemophilia as documented in the literature from pre-1800's to the present time.

A core outcome set for prophylaxis and perioperative treatment of von Willebrand disease: The coreVWD initiative.

Introduction: Treatment options are expanding for von Willebrand disease (VWD). A core outcome set (COS)-a minimum set of agreed-upon outcomes to be used in every clinical trial for a given condition-provides guidance on which outcomes are most important to measure to ensure necessary data is collected for a variety of stakeholders and enable comparison across products and trials.

Aim: coreVWD aimed to develop a COS for trials for prophylaxis and perioperative treatments for VWD.

Evaluating the impact of the self-BAT screening tool on patient outcomes: Results of the let's talk period project.

Introduction: One of the many challenges in diagnosing bleeding disorders is distinguishing between normal and abnormal bleeding symptoms. Letstalkperiod.ca is an educational website that includes an online self-administered bleeding assessment tool (Self-BAT) which is a validated screening tool that enables patients to independently determine their bleeding scores (BS).

Periprocedural hemostatic prophylaxis and outcomes in bleeding disorder of unknown cause.

Background: Bleeding disorder of unknown cause (BDUC) is a diagnostic category encompassing patients with a clear bleeding phenotype but without identifiable abnormality on hemostatic testing. The optimal management of hemostasis in BDUC patients prior to invasive procedures and childbirth is uncertain.

Objectives: Our objective was to characterize periprocedural hemostatic prophylaxis and bleeding outcomes in patients with BDUC.

Pregnancy loss in individuals with von Willebrand disease and unspecified mucocutaneous bleeding disorders: a multicenter cohort study.

Background: While bleeding around pregnancy is well described in von Willebrand disease (VWD), the risk of pregnancy loss is less certain.

Objectives: We aimed to describe the frequency of pregnancy loss in females with VWD compared with those with a similar mucocutaneous bleeding phenotype and no VWD or compared with nonbleeding disorder controls.

Methods: Female patients were consecutively approached in 8 specialty bleeding disorder clinics between 2014 and 2023.

Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents.

Introduction: It is widely acknowledged that haemophilia affects women and girls, yet current testing recommendations for factor level and genetic testing vary and do not universally incorporate updated research. Canadian parents have expressed frustration at inconsistent recommendations and reported instances where delayed testing led to missed diagnosis and preventable bleeding.

Aim: Study aim was to explore and describe the practice of haemophilia-related testing of young girls in Canada.

von Willebrand disease.

von Willebrand disease (VWD) is the most common inherited bleeding disorder. The disorder is characterized by excessive mucocutaneous bleeding. The most common bleeding manifestations of this condition include nosebleeds, bruising, bleeding from minor wounds, menorrhagia or postpartum bleeding in women as well as bleeding after surgery.

Standardization of definition and management for bleeding disorder of unknown cause: communication from the SSC of the ISTH.

In many patients referred with significant bleeding phenotype, laboratory testing fails to define any hemostatic abnormalities. Clinical practice with respect to diagnosis and management of this patient cohort poses significant clinical challenges. We recommend that bleeding history in these patients should be objectively assessed using the International Society on Thrombosis and Haemostasis (ISTH) bleeding assessment tool.

Diagnosis and treatment of von Willebrand disease in 2024 and beyond.

Manuscript Background And Aim: The diagnosis and clinical care of patients with von Willebrand disease (VWD) has continued to evolve since the characterization of the von Willebrand factor (VWF) gene in 1985. This condition is almost certainly the most common inherited bleeding disorder, and the major symptomatic burden of the disease is experienced by females during their reproductive years. Diagnosis relies on the identification of a personal and family history of excessive mucocutaneous bleeding, and laboratory features consistent with quantitative and/or qualitative abnormalities of VWF.

The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.

Background: As knowledge of the human genome has advanced, so too has the recognition that interpretation of the pathogenic nature of sequence variants can be challenging. The von Willebrand factor (VWF) gene exhibits a significant degree of sequence variability, and the first VWF variant associated with type 1 von Willebrand disease (VWD), c.4751 A>G, p.

New and emerging therapies for women, girls, and people with the potential to menstruate with VWD.

Innovation in therapies for patients with von Willebrand disease (VWD) has lagged far behind that for hemophilia, creating inequity in the bleeding disorder community. Although currently existing treatments of antifibrinolytics, desmopressin, and plasma-derived von Willebrand factor replacement are considered effective, multiple studies report poor quality of life in patients with VWD, especially those with heavy menstrual bleeding (HMB). This disconnect underscores the need for novel therapies that are safe and effective and that consider a patient's specific contraceptive and reproductive needs.

Impact of transcatheter aortic valve implantation on circulating von Willebrand factor in patients with severe aortic stenosis.

Introduction: Severe aortic stenosis (AS) can lead to degradation of high molecular weight (HMW) von Willebrand factor (VWF) which can result in haemostatic abnormalities. While studies have explored changes in VWF profiles before and after surgical aortic valve replacement (SAVR), the longer-term changes in VWF profiles pre- and post-transcatheter aortic valve implantation (TAVI) are less understood.

Aim: Our primary objective was to identify differences in VWF multimer profiles and VWF function pre-TAVI and 1-month post-TAVI.

Gastrointestinal bleeding in von Willebrand patients: special diagnostic and management considerations.

Introduction: Severe and recurrent gastrointestinal (GI) bleeding caused by angiodysplasia is a significant problem in patients with von Willebrand disease (VWD) and in those with acquired von Willebrand syndrome (AVWS). At present, angiodysplasia-related GI bleeding is often refractory to standard treatment including replacement therapy with von Willebrand factor (VWF) concentrates and continues to remain a major challenge and cause of significant morbidity in patients despite advances in diagnostics and therapeutics.

Areas Covered: This paper reviews the available literature on GI bleeding in VWD patients, examines the molecular mechanisms implicated in angiodysplasia-related GI bleeding, and summarizes existing strategies in the management of bleeding GI angiodysplasia in patients with VWF abnormalities.

Von Willebrand Disease: Gaining a global perspective.

Introduction: Recent guidelines for von Willebrand Disease (VWD) highlighted the challenges in diagnosis and management. Identifying the number of persons with VWD (PwVWD) internationally will help target support to aid diagnosis of PwVWD.

Aim: To examine international registration rates of PwVWD, the influence of income status, geographical region and the age and sex profile.

Management of heavy menstrual bleeding in women with bleeding disorders in a tertiary care center.

Background: Heavy menstrual bleeding (HMB) affects a significant number of women with bleeding disorders and has a negative impact on their quality of life.

Objective: This retrospective study examined the management of patients with inherited bleeding disorders who used medical treatments, alone or in combination, for HMB.

Methods: Chart review was performed on women attending the Women with Bleeding Disorders Clinic in Kingston, Ontario, between 2005 and 2017.

Identifying the effect of inherited bleeding disorders on the development of postpartum hemorrhage: a population-based, retrospective cohort study.

Background: Women with inherited bleeding disorders (IBDs) are at an increased risk of postpartum hemorrhage (PPH). However, the impact of other maternal predelivery risk factors, including anemia, on the association between IBD and maternal bleeding remains poorly understood. Additionally, studies examining potential pathways linking IBD and PPH are limited.

Beyond the guidelines: how we approach challenging scenarios in the diagnosis and management of von Willebrand disease.

Although von Willebrand disease (VWD) is the most common inherited bleeding disorder, its diagnosis and management are often challenging. Clinical practice guidelines, developed through systematic review of the medical literature and considering the best available evidence, provide guidance for common clinical scenarios. However, in the clinical setting, patients often present with characteristics and nuances that may fall outside the realm of available evidence and guidelines, and hence, shared decision-making will be essential in the evaluation and management of these patients.

Variability in International Society on Thrombosis and Haemostasis-Scientific and Standardization Committee endorsed Bleeding Assessment Tool (ISTH-BAT) score with normal aging in healthy females: contributory factors and clinical significance.

Background: Bleeding assessment tools are key screening tests used in the evaluation of patients with suspected inherited bleeding disorders. The International Society on Thrombosis and Haemostasis-Scientific and Standardization Committee endorsed Bleeding Assessment Tool (ISTH-BAT) has differing reference ranges for adult males (0-3), adult females (0-5), and children (0-2), reflecting differing bleeding symptoms and exposure to hemostatic challenges in these healthy population subgroups. Age is known to markedly impact bleeding score in individuals with von Willebrand disease.