Severe recurrent endometriomas in a young woman with congenital von Willebrand disease.

The pathophysiology of severe endometriosis in young women remains unknown. Menorrhagia, or heavy and prolonged menstrual bleeding, is the most common symptom experienced by women with von Willebrand disease (vWD) and represents a possible risk factor for developing endometriosis. A 17-year-old woman affected by vWD presented with severe dysmenorrhea and heavy menstrual bleeding. After being diagnosed with multiple ovarian endometriomas, the patient underwent repeated surgeries due to suspicious appearance of recurrent pelvic masses. vWD may be a risk factor for developing severe endometriosis, and patients with endometriosis should be screened for vWD and other bleeding disorders. Ovarian endometriomas in such patients might present a more severe progression and unique ultrasound findings, mimicking malignancies.

Gastrointestinal angiodysplasia in two patients with type 3 von Willebrand disease.

: Angiodysplastic (AD) lesion is the most common cause of recurrent gastrointestinal (GI) bleeding in inherited Von Willebrand disease (VWD) patients lacking high-molecular-weight multimers. Defect or dysfunction of von Willebrand factor (VWF) may lead to enhanced endothelial cell proliferation followed by the development of neoangiogenesis and vascular malformation, which result in severe bleeding. Recurrent bleeding causing by GI AD is a challenging complication of VWD. The management of VWD could be difficult due to frequent recurrence and severity of bleeding episodes. The primary aim of management is not only to stop but also to prevent bleeding. We present two patients of type 3 VWD associated with AD and severe GI bleeding, which were successfully treated by endoscopic coagulation and prophylactic therapy with different regimens of plasma-derived VWF/factor VIII (pdVWF/FVIII) concentrate to maintain a trough level in the patient unresponsive to standard treatment.

Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome.

INTRODUCTION: infection with the hepatitis C virus (HCV) causes significant morbidity and mortality in patients with hemophilia. Finally, patients are considered for a liver transplantation (LT) due to cirrhosis and/or hepatocellular carcinoma (HCC). CASE REPORT: we report the cases of congenital coagulopathy and HCV infection that underwent LT in our institution. There were three patients with hemophilia A and one patient with von Willebrand disease (vWD) type 3. The coagulopathy outcome, perioperative management, factor and blood product usage and post-transplant survival were assessed. The deficient factor was initially administered in a direct bolus one hour before surgery with a target level of 100 IU/dl, which was sustained until stable hemostasis was reached. All three patients with hemophilia A were cured of their coagulopathy following transplantation. Factor VIII (FVIII) was 93 IU/dl at eleven years, 59 IU/dl at 13 months and 109 IU/dl at nine months post-transplant, in each case. The mean perioperative usage of FVIII concentrates was 175 IU/kg; concentrates were infused for an average of 36 hours post-transplant. The natural course of the bleeding symptoms of the patient with type-3 vWD was attenuated, with no detectable hemostatic levels of von Willebrand factor antigen (vWF:Ag) after transplantation. DISCUSSION: after transplantation, hemophilia A cure and improved bleeding phenotype of type-3 vWD reduced morbidity and mortality. However, potential graft reinfection with HCV and relapsing HCC cast a shadow over these optimum results.

Is gingival bleeding a symptom of type 2 and 3 von Willebrand disease?

BACKGROUND: Von Willebrand disease (VWD) is the most common inherent bleeding disorder. Gingival bleeding is a frequently reported symptom of VWD. However, gingival bleeding is also a leading symptom of plaque-induced gingivitis and untreated periodontal disease. In type 1 VWD gingival bleeding was not increased compared to controls. Thus, this study evaluated whether type 2 and 3 VWD determines an increased susceptibility to gingival bleeding in response to the oral biofilm. METHODS: Twenty-four cases and 24 controls matched for age, sex, periodontal diagnosis, number of teeth and smoking were examined hematologically (VWF antigen, VWF activity, factor VIII activity) and periodontally (Gingival Bleeding Index [GBI]), bleeding on probing [BOP], Plaque Control Record [PCR], periodontal inflamed surface area [PISA], vertical probing attachment level). RESULTS: BOP (VWD: 14.5±10.1%; controls: 12.3±5.3%; p = 0.542) and GBI (VWD: 10.5±9.9%; controls: 8.8±4.8%; p = 0.852) were similar for VWD and controls. Multiple regressions identified female sex, HbA1c, PCR and PISA to be associated with BOP. HbA1c and PCR were associated with GBI. Number of remaining teeth was negatively correlated with BOP and GBI. CONCLUSION: Type 2 and 3 VWD are not associated with a more pronounced inflammatory response to the oral biofilm in terms of BOP and GBI.

Spectrum of Von Willebrand's disease in Punjab: clinical features and types.

BACKGROUND: Von Willebrand's disease (VWD) is a common inherited bleeding disorder caused by quantitative deficiency (Type-1 & Type-3 VWD) or qualitative defect of Von Willebrand's Factor (Type-2 VWD). Regarding VWD limited studies are available in Pakistan. The current study was aimed to determine the clinical presentation and frequency of types of VWD. METHODS: A cross sectional study was carried out from 16th December 2012 to 15th December 2013 on fifty one patients of VWD. RESULTS: Patients were diagnosed on the basis of prolonged bleeding time, abnormal APTT, reduced level of VWF: Ag, FVIII, VWF: RCo and ratio of VWF: RCo/VWF Ag. Among them 26 (50.98%) were male and 25 (49.02%) were female. Type3 VWD (94.12%) was found to be the commonest type. Two (3.92%) cases of type-2 VWD and only one (1.96%) case of type-1 VWD were identified. Easy bruising was the most commonly observed clinical presentation, 21 (41.18%) patients, followed by epistaxis 7 (13.73%), gum bleed 4(7.84%) menorrhagia 5(9.80%), haemarthosis 2(3.92%), haematoma formation 5 (9.80%), bleeding after circumcision 2 (3.92%), bleeding after surgery 2 (3.92%) and umbilical cord bleeding 3 (5.88%). Consanguineous marriages were reported in parents of 42 (82.4%) patients. Family history of bleeding disorder was reported in 44 (86.27%) of cases. CONCLUSION: Type-3 VWD was found to be the commonest type which can be attributed to the fact that type-3 VWD is transmitted through autosomal recessive pattern of inheritance and consanguineous marriages are highly practiced in our society leading to high frequency of this form of VWD. Easy bruising and epistaxis were concluded to be the most common clinical presentation. Menorrhagia was found to be common in the females of child bearing age.

Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease in southern Iran.

The objective of the present study was to compare old and new bleeding scores in patients with type-3 von Willebrand disease (vWD), obligatory carriers and normal controls, and to compare the ability of bleeding scores vs. clinical and laboratory data to predict bleeding after surgery. We identified 15 patients from 12 families who had type 3 vWD. Normal controls were matched to carriers by sex and age. Two physician-administered standardized questionnaires were used to evaluate old and new bleeding symptoms. Scores for old symptoms were the same in carriers and control participants (median score 0.00 vs. 0.00, P < 0.001), and patients with vWD had a significantly higher bleeding score than carriers (median 10.00 vs. 0.00, P < 0.001). Scores for new symptoms were higher in carriers than in control participants (median score -1.00 vs. -2.00, P < 0.001), and patients had a significantly higher bleeding score than carriers (median 14.00 vs. -1.00, P < 0.001). The clinical situations associated with increased bleeding risk (old symptoms) in patients with type 3 vWD compared to obligatory carriers were epistaxis [odds ratio (OR) = 175.5; 95% confidence interval (CI) 14.55-2116.69; P < 0.001], cutaneous symptoms (OR = 108; 95% CI 10.16-1147.39; P < 0.001) and hemarthrosis (OR = 19.5%; 95% CI 4.32-156.46; P < 0.001). The clinical situations associated with increased bleeding risk according to scores for new symptoms in patients with type 3 vWD compared to obligatory carriers were epistaxis (OR = 175.5; 95% CI 14.55-2116.69; P < 0.001), cutaneous symptoms (OR = 52; 95% CI 7.65-353.09; P < 0.001) and bleeding from minor wounds (OR = 74.25; 95% CI 7.43-741.118; P < 0.001). The three groups differed significantly in the severity of epistaxis and cutaneous bleeding according to scores for new and old symptoms. The new bleeding score was more reliable than the old bleeding score in predicting bleeding after invasive procedure.