A 28-year-old woman was found to have coagulation factor Ⅷ activity (FⅧ∶C) <1% and von Willebrand factor antigen (VWF∶Ag) <1% during routine prenatal examinations. No pathogenic variation was found in the exon region of the VWF gene using next-generation sequencing. The clinical presentation of this patient does not match the clinical characteristics of type Ⅲ hemophilia [von Willebrand disease (VWD) ]; therefore, third-generation sequencing technology was used to perform whole-genome sequencing on the patient and her family members. Multiple members of the patient\'s paternal family carried a heterozygous variant of VPS33B, c.869G>C. The family members carrying this variant all had varying degrees of reduced VWF levels (39% -56% ). Moreover, the proband was detected with the heterozygous variant c.1474dupA in GP1BA. The ACMG and Clinvar databases determined that this variation was associated with platelet-type pseudo VWD. The decrease in VWF levels caused by heterozygous variations in VPS33B in families is the first international report, and no previous studies have reported cases of severe decrease in plasma VWF levels caused by double heterozygous variations in VPS33B and GP1BA.
一例28岁女性，孕期常规体检发现凝血因子Ⅷ活性（FⅧ∶C）<1%、血管性血友病因子抗原（VWF∶Ag）<1%。二代测序未发现其VWF基因外显子区域存在致病变异。由于该患者临床表现与Ⅲ型血管性血友病（VWD）临床特征不符，因此采用三代测序技术对该患者及其家系成员进行全基因组测序，发现该患者父系家族中有多位成员中携带VPS33B基因杂合变异c.869G>C，携带该变异的家系成员均有不同程度的VWF水平降低（39%～56%）。同时，先证者还检出GP1BA基因杂合变异c.1474dupA，ACMG及Clinvar数据库判断该变异与\"血小板型假性VWD\"相关。VPS33B基因杂合变异导致的VWF水平降低家系为国际首次报道，VPS33B基因与GP1BA基因双重杂合变异引起血浆VWF水平严重降低病例之前也未见报道。.

Von Willebrand disease (VWD) is the most common inherited bleeding disorder. It is primarily attributed to malfunctioning or deficient Von Willebrand factor (VWF). Thromboelastography (TEG) has emerged as a valuable tool for assessing coagulation dynamics and guiding transfusion therapy in bleeding patients. Given this, we present a case study of a 23-year-old pregnant female with a past medical history of type 2B VWD, wherein TEG was employed to optimize disease screening and therapy monitoring while minimizing costs and preventing complications associated with low platelet counts. This case underscores the potential utility of TEG in enhancing the care of VWD patients, particularly in unique critical settings such as pregnancy.

Hiatal hernias continue to be fairly common in clinical practice. However, the variety of different symptoms presented by patients may hinder establishing the ultimate diagnosis. Nevertheless, currently, the diagnosis of hiatal hernia can be easily established, based on barium swallow radiography. We would like to present a clinical case report of a patient with complex medical history, including von Willebrand disease, degenerative spinal disease, and chronic sinusitis, who was finally diagnosed with hiatal hernia and treated with a standard laparoscopic Nissen fundoplication. Our case focuses on the significance of comorbidities on patients\' symptoms, which sometimes may mislead the therapeutic process.

We present the case of an elderly man with a history of diastolic congestive heart failure, severe aortic stenosis and atrial fibrillation, who presented with fatigue, weakness, coffee ground emesis and black tarry stool. Haemoglobin was 68 g/L. Lactate dehydrogenase was elevated at 1038. Evaluation by cardiology and gastroenterology specialists revealed reflux oesophagitis and a mild hiatal hernia on oesophagogastroduodenoscopy, normal colonoscopy and small bowel series without obstruction. Capsule endoscopy identified angiodysplasia in the small intestine.The patient was diagnosed with Heyde\'s syndrome based on the triad of severe aortic stenosis, gastrointestinal bleeding from angiodysplasia and acquired von Willebrand syndrome. The patient underwent transcatheter aortic valve replacement, resulting in the resolution of symptoms.Heyde\'s syndrome represents a challenging clinical entity requiring a multidisciplinary approach for accurate diagnosis and management. Early recognition, prompt intervention and interdisciplinary collaboration are crucial in optimising patient outcomes.

With advancement of medicine in the field of diagnostics and treatment of women suffering from certain genetic disorders, more and more women have attained reproductive age and desired fertility. Maintaining pregnancy, as well as bringing it to an end poses a real challenge not only for obstetricians, but also for anesthesiologists involved in the procedure. In our case report, we describe anesthetic management of a female patient suffering from myotonic dystrophy type 2 and suspected von Willebrand\'s disease, and undergoing elective cesarean section. It is acknowledged that both diseases have their own peculiarities and specificities related to anesthesia and require careful consideration when it comes to selecting it. Bearing in mind the advantages and disadvantages of certain types of anesthesia, we believe that in this case, general anesthesia was a better choice compared to the regional techniques of anesthesia.

UNASSIGNED: von Willebrand disease (vWD) is an inherited bleeding disorder that is characterized by a quantitative or qualitative deficiency of the von Willebrand factor (vWF). Type 3 is the most severe form of vWD with a near-complete absence of vWF and a significantly increased risk of excessive bleeding and hematoma during a surgical procedure. To date, no data on surgical and hemostatic management of a type 3 vWD patient undergoing body-contouring surgery has been published. We report the case of a 47-year-old woman with type 3 vWD requiring medically indicated abdominoplasty after massive weight loss due to bariatric surgery. The case was successfully managed with individualized bodyweight-adapted substitution of recombinant vWF vonicog alfa and tranexamic acid under close monitoring of vWF and factor VIII activity. For further risk stratification, we propose the multidisciplinary treatment of patients with severe vWF undergoing elective plastic surgery in specialized centers providing around-the-clock laboratory testing and access to a blood bank. In addition, strict hemostasis during surgery and early postoperative mobilization with fitted compression garments are recommended to further reduce the risk of bleeding and thromboembolic complications.

Von Willebrand disease (VWD) is a bleeding disorder caused by a congenital quantitative reduction, deficiency, or qualitative abnormality of the von Willebrand factor (VWF). Here, we report a case of delayed postoperative bleeding in an infertile woman with endometrial polyps complicated by VWD. The patient was a 39-year-old infertile woman with type 2A VWD. At 38 years of age, she was referred to our hospital for infertility and heavy menstrual bleeding. Hysteroscopy revealed a 15-mm polyp lesion in the uterus. The patient was scheduled for transcervical resection (TCR) of the endometrial polyp. Gonadotropin-releasing hormone agonists were preoperatively administered to prevent menstruation. The VWF-containing concentrate was administered for 3 days according to guidelines. The patient was discharged on postoperative day 3 after confirming the absence of uterine bleeding. Uterine bleeding began on postoperative day 6. The patient was readmitted on postoperative day 7 and treated with VWF-containing concentrate for 5 days, after which hemostasis was confirmed. TCR surgery for endometrial lesions is classified as a minor surgery, and guidelines recommend short-term VWF-containing concentrate replacement. However, it should be kept in mind that only short-term VWF-containing concentrate replacement may cause rebleeding postoperatively.

Acquired bleeding disorders because of an autoimmune phenomenon are rare events. Acquired von Willebrand disease (aVWD) has been estimated as having a prevalence of 400 per million in the general population. Acquired hemophilia A (AHA), the most common of the acquired hemophilias, has an estimated incidence of 1.3-1.5 cases per million per year. Immune checkpoint inhibitors (ICI) targeting PD-1, PD-L1, and CTLA-4 are being used with increasing frequency for hematologic and oncologic disorders. Acquired hemophilias and aVWD have been reported with the use of ICI therapy. We performed a systematic review of the literature to identify cases of acquired bleeding disorders with ICI therapy and contribute our own institution\'s experience with a case of AHA after pembrolizumab therapy. Six cases of AHA, one case of aVWD, and one case of factor V inhibitor were identified in the literature. Inhibitors were successfully eradicated in five of the eight cases identified. We propose that a centralized registry, possibly through the Scientific and Standardization Subcommittee on Plasma Coagulation Inhibitors through the International Society on Thrombosis and Hemostasis (ISTH), be developed to record treatment and outcomes of this rare ICI complication in order to prognosticate risk and better understand optimal treatment strategies.

Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant bleeding disorder characterized by an increased ristocetin-induced platelet aggregation (RIPA) and enhanced affinity of platelet glycoprotein Ibα (GPIbα) to von Willebrand factor (VWF). To date, only seven variants have been described with this gain-of-function effect, most of them located in the C-terminal disulphide loop of the VWF-binding domain of GPIbα. We herein describe a patient with moderate bleeding symptoms, mild thrombocytopenia and increased RIPA. By direct sequencing of GP1BA, a novel leucine-rich repeat heterozygous variant was identified (c.580C>T; predictably p.Leu194Phe), strongly suggestive as being the underlying cause for the PT-VWD phenotype of our patient.

A woman in early 20s with type 1 von Willebrand disease (vWD) presented to the emergency department with abdominal pain and vaginal bleeding at 5 weeks post partum following primary caesarean section. Imaging revealed a uterine artery pseudoaneurysm (UAP), which is a rare condition that can cause postpartum haemorrhage. Caesarean birth and vWD are two risk factors for pseudoaneurysm. Swift postpartum recognition of a pseudoaneurysm is essential to prevent a potentially life-threatening outcome. Successful diagnosis and treatment of the patient\'s symptoms required interdisciplinary teamwork between obstetricians, interventional radiologists and haematologists. Uterine artery embolisation (UAE) was performed and complete resolution of the pseudoaneurysm was noted 6 weeks after the procedure. Haemorrhage was averted due to early detection of UAP prior to its rupture, and future fertility was preserved. The patient successfully conceived a second child 1 year after UAE and delivered via caesarean birth without haemorrhage or recurrence of UAP.