Retrospective chart review of GI bleeding in people with von Willebrand disease.

Introduction: Gastrointestinal (GI) bleeding events (BEs) in von Willebrand disease (VWD) are difficult to diagnose and often recurrent. Limited data from clinical trials has led to lack of consensus on treatment options.

Aim: Describe current treatments and outcomes for GI BEs in people with VWD.

Clinical characteristics of C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from C282Y homozygotes.

Background: Patients with p.C282Y homozygous (p.C282Y) mutations are more likely to develop hemochromatosis (HC) than p.

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.

Observational cohort study of long-term outcomes of liver transplantation in haemophilia.

Introduction: Gene therapy is now a reality for individuals with haemophilia, yet little is known regarding the quality-of-life impact of factor correction. As few data exist, and recognizing the analogy to liver transplantation (OLTX), we identified OLTX+ and OLTX- men in the ATHNdataset to compare post-OLTX factor VIII and IX on quality of life (QoL) by Haem-A-QoL and PROMIS-29.

Methods: OLTX- were matched to OLTX+ by age, race, and haemophilia type and severity.

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders.

Background: Excessive or abnormal mucocutaneous bleeding (MCB) may impact all aspects of the physical and psychosocial wellbeing of those who live with it (PWMCB). The evidence base for the optimal diagnosis and management of disorders such as inherited platelet disorders, hereditary hemorrhagic telangiectasia (HHT), hypermobility spectrum disorders (HSD), Ehlers-Danlos syndromes (EDS), and von Willebrand disease (VWD) remains thin with enormous potential for targeted research.

Research Design And Methods: National Hemophilia Foundation and American Thrombosis and Hemostasis Network initiated the development of a National Research Blueprint for Inherited Bleeding Disorders with extensive all-stakeholder consultations to identify the priorities of people with inherited bleeding disorders and those who care for them.

The diagnosis, natural history, and management of von Willebrand disease in women in the age of guidelines.

Introduction: Women and girls with bleeding disorders face multiple bleeding challenges throughout their life. The most significant morbidity and mortality are due to heavy menstrual bleeding and postpartum hemorrhage in their reproductive years. The ASH/ISTH/NHF/WFH 2021 guidelines on diagnosing and managing von Willebrand disease (VWD) provide several new updates.

Depression and anxiety in persons with Von Willebrand disease.

Objective: We assessed sociodemographic and clinical characteristics associated with depression and anxiety in individuals with Von Willebrand disease (VWD) aged ≥12 years.

Methods: The study collected data on patients' sociodemographic, joint problems and health-related quality of life (HRQoL) using EQ-5D-3L, 8-item patient health questionnaire for depression and 7-item Generalized Anxiety Disorder Questionnaire from participants in seven geographically diverse US haemophilia treatment centres.

Results: Analyses included 77 participants.

Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a postpartum patient with preeclampsia: a case report.

Hemophagocytic lymphohystiocytosis is an extremely life-threatening immune deregulatory syndrome. It is characterized by pathologic activation of immune cells, leading to excessive cytokine production, multiorgan failure, and potentially, death. A 28-year-old primigravida at 32 weeks and 3 days of gestation presented with newly-diagnosed preeclampsia with severe features, fever, and fetal tachycardia.

Examining international practices in the management of pregnant women with von Willebrand disease.

Background: The management of pregnant women with von Willebrand disease (VWD) is complex as physiological pregnancy-induced increases in plasma von Willebrand factor (VWF) may be blunted or absent. Women with VWD experience a heightened risk of postpartum hemorrhage (PPH) and special consideration must be given regarding neuraxial anesthesia (NA) and the need for prophylaxis at time of delivery. These challenges are compounded by a lack of robust evidence to guide clinical decision-making.

Regulation and importance of factor VIII levels in hemophilia A carriers.

Purpose Of Review: To summarize the recent literature related to female hemophilia A carriers with respect to prevalence in the population, the impact of baseline factor VIII levels and other influences on bleeding phenotype, and clinical management needs.

Recent Findings: Many female hemophilia A carriers are at risk for abnormal bleeding, yet they are underrecognized by healthcare providers and their bleeding symptoms are underreported. Low FVIII levels are consistently associated with clinically significant bleeding and correlate well with skewed X chromosome inactivation (XCI).

Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II).

Although rare clotting factor deficiencies primarily referred to as rare bleeding disorders (RBD), including factors II, V, VII, and X, make up ∼5% of all inherited bleeding disorders worldwide, each of these clotting factors play a critical role in the coagulation cascade. Incomplete bleeding evaluation or misinterpretation of laboratory studies can result in delayed diagnoses that ultimately affect patient outcomes. Bleeding manifestations can range from mild to severe, but the most common are mucocutaneous bleeding.

Low von Willebrand Factor in Children and Adolescents: A Review.

Importance: Recent studies have documented increased bleeding symptoms and related complications in patients with low von Willebrand factor (VWF), highlighting the clinical significance of this entity. Because children and adolescents with VWF deficiencies often present to primary care physicians with bleeding symptoms, physicians need to be aware of this condition for early detection.

Observations: Studies have found that children and adolescents with low VWF (VWF levels of 30-50 IU/dL) can present with clinically significant bleeding, including mucosal, menstrual, postsurgical, and posttraumatic bleeding, leading to complications such as anemia, iron deficiency, transfusion, hospitalization, and poor quality of life.

Management of anticoagulation associated reproductive tract bleeding in adolescent and young adult females - Results of a multinational survey.

Introduction: Reproductive tract bleeding (RTB) is an important outcome in menstruating females on anticoagulant therapy (AC). The diagnosis and management of AC-RTB in adolescent and young adult (AYA) females is unknown.

Aims: The aim of this study was to survey the contemporary patterns of diagnosis and management of AC-RTB in AYA females.