Underlying Bleeding Disorder Research Articles

Driving improvement of diagnosis and awareness of heavy menstrual bleeding in women among physicians.

A number of barriers in care exist for women/girls with bleeding disorders. Little progress has been made to overcome them, particularly regarding levels of awareness of healthcare professionals (HCPs) and women/girls. To evaluate awareness and perception of heavy menstrual bleeding (HMB) and bleeding disorders among HCPs and women/girls. A three-part qualitative study was conducted, including HCPs and women/girls from over seven countries. Part 1 included eleven 60-min interviews with experts discussing HMB diagnostic barriers, which were further assessed in surveys among 6099 women/girls, 353 general practitioners (GPs), and 426 obstetricians and gynaecologists (OB/GYNs) during Part 2. Part 3 included three 1.5-2-h workshops with 20 clinicians and patient representatives covering HMB knowledge, criteria defining HMB and HCP resourcing for diagnosis. Many HCPs do not conduct certain investigations for women/girls presenting with HMB, and 22% of GPs lack confidence in the management of HMB. Only 8% of GPs use screening tools to evaluate menstrual blood loss, and 13% of GPs and 15% of OB/GYNs assess underlying bleeding disorders. Seventy-six percent of menstruating women/girls believed they could recognise HMB symptoms 'well'. However, 23% of these women/girls would not seek medical advice for abnormal/prolonged menstruation disrupting their lives. Disruptions were reported in 34% of women/girls from the general population and 61% of women with at-risk symptoms of HMB. Many women/girls and HCPs have limited awareness of important HMB indicators. There is a need for standardized clinical criteria to promote efficient diagnoses and management.

Maximum surgical blood order schedule: A key component of perioperative blood management in neurosurgery

Abstract: CONTEXT: Institute specific protocols are needed to reduce unnecessary cross matches. Type and screen policies for surgical procedures which does not require blood and maximum surgical blood order schedule (MSBOS) for procedures which require blood units are the two protocols in use currently. AIM: To compare the effect of maximum surgical blood order schedule in neurosurgery between pre- and post-implementation. SETTINGS AND DESIGN: It is a study of 5 years’ duration (4 years retrospective and 1 year prospective) conducted at the departments of transfusion medicine, neurosurgery and neuroanesthesia. SUBJECTS AND METHODS: The patients above 18 years for whom blood requisition were sent were included, whereas those who underwent emergency procedures, massive transfusion, or had underlying bleeding disorders were excluded. The MSBOS was developed based on 4 years’ retrospective data and the new protocol was followed for 1 year. The transfusion indices were compared between preimplementation and postimplementation. RESULTS: A total of 2462 patients were included in the retrospective period, whereas it was 746 in the prospective group. Overall, reduction of crossmatch to transfused ratio from 3.6 to 2.4 and increase of blood utilization from 27.40% to 41.55% was observed. The patients for whom type and screen were performed increased from 18% in the retrospective period to 75% in the prospective period. Eighteen out of 30 common procedures were managed with T and S and seven of them did not require even a single unit of red blood cells intraoperatively. CONCLUSIONS: Our study highlights the importance of including both diagnosis and procedure to formulate MSBOS and the use of modified formulas “transfusion index for type and screen and transfusion probability for type and screen” for revision of MSBOS.

Rare bleeding disorders in Egyptian females presented with heavy menstrual bleeding: single-center study

BackgroundHeavy menstrual bleeding is an important health problem in women of reproductive age and is also one of the most common symptoms in women with bleeding disorders. Data about the frequency of rare bleeding disorders are limited, and population-based studies are lacking, so we aimed to determine the frequency of rare bleeding disorders among women presented with heavy menstrual periods that cannot be attributed to obvious problems.MethodsComplete blood count and bleeding profiles include activated partial thromboplastin time, prothrombin time, factor VIII activity assay, ristocetin cofactor activity, von Willebrand antigen assay, platelet aggregation tests and other factor assays in 100 out of 300 females presented with unexplained heavy menstrual period, pictorial bleeding assessment chart (PBAC) > 100 as a screening tool for heavy menstrual periods, and or International Society of Thrombosis and Hemostasis-Bleeding Assessment Tool (ISTH-BAT) > 6.ResultsA total of 300 women with heavy menstrual periods without an obvious explained cause were included in our study. Among them, we found 100 (30%) females with a mean PBAC of 234 ± 147 and mean ISTH-BAT of 9 ± 5 denoting HMB may be due to underlying bleeding disorders. Among them, the most common diagnosis was VWD in 30 (30%). Other disorders were as follows: 28 (28%) cases with clotting factor deficiencies, 24 (24%) cases were found to have platelet dysfunction, and in 18% of our studied cases, we did not find a clear cause of their bleeding disorders (unknown).ConclusionRare bleeding disorders are not uncommon and require comprehensive hemostatic evaluation as well as simple tools like PBAC and ISTH-BAT questionnaires for the identification of females presented with unexplained HMB.

Acute Compartment Syndrome in a Neonate: May Be the First Manifestation of Hemophilia A

Abstract Background: Acute compartment syndrome (ACS) most commonly results from traumatic or ischemic injuries, though rarely it may result from an underlying bleeding disorder. Reports of ACS in hemophilia are present; however, neonatal presentation secondary to hemophilia A is extremely rare. Clinical Description: A 5-day-old neonate presented with increasing swelling and hematoma over the dorsum of both hands following venipuncture. There was no other bleeding manifestations. Antenatal history and natal history were uneventful, and the baby had received a birth dose of Vitamin K. On examination, the hematoma was larger on the right hand than the left, extending from the proximal interphalangeal joints of all the digits to the wrist proximally, with tension on palpation and increased capillary refilling time, associated with bluish discoloration of hands and fingers with claw hand appearance. Oxygen saturation on pulse oximeter was 80%–85%. Management and Outcome: The baby had a hemoglobin of 16.3 g/dL, white blood cell count of 5300/mm3, platelet count of 2.33 lakhs/mm3, and elevated activated partial thromboplastin time >120 s with a normal prothrombin time of 12 s. Factor assay confirmed severe factor VIII deficiency (<1%). Ultrasonography Doppler of the hand confirmed compartment syndrome. Cryoprecipitate was given perioperatively, and fasciotomy was done. Perfusion of the hand improved, and oxygen saturation normalized. Healing was accomplished without any closure, with good cosmesis and complete functional recovery by 14 days. Conclusion: ACS may be an unusual primary presentation of hemophilia as early as in the neonatal period. Timely identification of ACS and early suspicion of an underlying bleeding disorder can help in undertaking appropriate evaluation and management strategies and preventing catastrophic consequences.

Colonic interposition in esophagectomy: an ACS-NSQIP study.

For patients with cancer or injury of the esophagus, esophagectomy with reconstruction using the stomach (gastric pull-up, GPU) or colon (colonic interposition, CI) can restore function but is associated with high morbidity. We sought to describe the differences in outcomes between the two replacement organs using a national database. From ACS-NSQIP, patients who underwent GPU or CI between 2006 and2020 were identified. Univariate analyses were performed on length of stay, complications, reoperation, readmission, and mortality. Variables with P ≤ 0.2 were included in the multivariate regression. Primary outcomes were 30-day reoperation, readmission, and mortality. Data were assessed using Chi-squared tests and logistic regression. There were 12,545 GPU and 502 CI patients. GPU patients were older with higher BMI, and more likely to be male (80.3% versus 70.3%, P < 0.0001) and white (77.8% versus 69.1%, P < 0.0001). More GPU patients had independent functional status and underlying bleeding disorders, but fewer other preoperative comorbidities than CI patients. On univariate analysis, CI patients had longer hospital stays (13 versus 10days, P < 0.0001); more reoperations (23.9% versus 14.5%, P < 0.0001); a lower rate of discharge to home (70.9% versus 82.1%, P < 0.0001); and a higher mortality rate (6.2% versus 2.9%, P < 0.0001). On multivariate analysis, CI was associated with increased risk of reoperation but not with readmission or mortality. Reoperation was associated with CI, smoking, chronic wound, hypertension, higher ASA class, contaminated or dirty wound class, and longer operative time. Readmission was associated with female gender, hypertension, and longer operative time. Mortality was associated with age, metastatic cancer, preoperative sepsis, preoperative renal failure, malignant esophageal disease, higher ASA class, incomplete closure, and longer operative time. Colonic interposition, although a more difficult option with traditionally worse outcomes, should still be considered for patients requiring esophagectomy if the stomach cannot be used to restore continuity, as differences in outcomes appear to be due to underlying frailty of patients rather than the procedure.

Perioperative Transfusions in Veterans Following Noncardiac Procedures.

Background: Perioperative blood transfusions are associated with increased morbidity and mortality. Each surgical specialty is associated with unique operative variables. Moreover, transfusion rates vary across specialty. This article seeks to elucidate variables both common and unique to surgical specialties. Materials and Methods: This study was a retrospective review of 5344 patients from the prospectively maintained Veterans Affairs Surgical Quality Improvement Project at a single-level 1A tertiary Veterans Affairs Medical Center. Data collected included demographic information, preoperative clinical variables, postoperative outcomes, and perioperative transfusion (within 72 hours of procedure). Patients were stratified based on whether they received a transfusion. Univariate and multivariate analyses were performed. P values <.05 were significant. Results: Of the 5344 patients included in the study, 153 required perioperative transfusion of at least one unit of packed red blood cells. Patients who underwent transfusion were more likely to be men, have an underlying bleeding disorder, and have more preoperative risk factors. Although unique risk factors were found within most specialties, there was no statistically significant difference in postoperative complications between surgical specialties. Patients requiring transfusion had higher rates of morbidity and mortality. Elevated preoperative hematocrit was significantly protective against requiring transfusion across most specialties. Conclusions: Specialty-based differences in transfusion requirement may be due to the proportion of older and more frail patients, hospital transfusion thresholds, and surgical complexity. Hematocrit, however, could be an effective target for mitigating cost and morbidity associated with transfusion. Preoperative hematocrit optimization through B12, folate, iron dosing, and erythropoietin supplementation could be a useful strategy.

Closing the Diagnostic Gap in Adolescents and Young Adult Women With Bleeding Disorders: Missed Opportunities.

Approximately 2% of the general population have an underlying inherited bleeding disorder, which, for adolescents and young adult women, has both physical risks and adverse psychosocial effects. Heavy menstrual bleeding can be the first sign of an underlying bleeding disorder such as von Willebrand disease and the X-linked bleeding disorders hemophilia A and B. Connective tissue disorders such as Ehlers-Danlos syndrome, in particular the hypermobile subtype, are relatively frequent in the general population and can also cause bleeding symptoms from impaired hemostasis due to defective collagen. For more than 20 years, the American College of Obstetricians and Gynecologists (ACOG) has recommended screening adolescents and young adult women for bleeding disorders when they present with heavy menstrual bleeding. Despite this directive, there is a significant gap from symptom onset to time of diagnosis in this patient population. We must work to effectively close this diagnostic gap by consistently obtaining thorough bleeding histories, performing the appropriate laboratory evaluations, working collaboratively with hematologists, and using tools and materials promoted by ACOG. Improved screening and earlier diagnosis of these individuals can have far-reaching effects that are not limited to heavy menstrual bleeding management and extend to peripartum considerations and prenatal counseling.

Bleeding disorder of unknown cause: Results from Iranian study

BackgroundDefinite diagnosis of patients with mild to moderate bleeding is challenging. Some studies reported that even more than 50% of their patients remained undiagnosed which is classified as a Bleeding disorder of unknown cause (BDUC). This study aims to document the clinical characteristics and proportion of patients with BDUC in the Iranian Comprehensive Hemophilia Care Center (ICHCC) one of the referral centers for diagnosis of congenital bleeding disorder in Iran. MethodsThis study was conducted on 397 patients who were referred with a bleeding manifestation to ICHCC from 2019 to 2022. Demographic and laboratory data were documented for all patients. Bleeding questionnaires including ISTH-Bleeding Assessment tool (ISTH-BAT) and the Molecular and Clinical Markers for the Diagnosis and Management of Type 1 (MCMDM-1 (ISTH-BAT, MCMDM-1, and the Pictorial Bleeding Assessment Chart (PBLAC) were filled out for all patients. The data were analyzed by the statistical package for social science (SPSS version 22, SPSS, Chicago, Illinois, USA). ResultsBDUC was diagnosed in 200 patients and 197 patients reached the final diagnosis. Hemophilia, von Willebrand disease (VWD), factor (F) VII deficiency, and platelet functional disorders (PFDs) were confirmed in 54, 49, 34, and 15 of the patients, respectively. No significant difference was found in bleeding scores between patients with BDUC and those with confirmed disease. In contrast, after setting cut-off (ISTH-BAT for males ≥ 4 and females ≥ 6 and MCMDM-1 for males ≥ 3 and females ≥ 5) clinically significant difference was found. There was no association between having a positive consanguineous marriage and setting a diagnosis; however, significant associations were seen for having a positive family history of bleeding. Age (OR =0.977, 95% CI.965–0.989), gender (BDUC female, 151/200; final diagnosis female, 95/197) (OR=3.3, 95% CI 2.16–5.06), family history (OR = 3.19, 95% CI 1.99–5.11), and consanguineous marriage (OR=1.59, 95% CI 1.03–2.45) were considered as a risk factor for categorizing the patients with BDUC or final diagnosis. ConclusionThe findings are mainly in line with previous studies about BDUC patients. The large number of patients with BDUC underlines the incompleteness of available routine laboratory tests and shows the necessity of progress in the development of reliable diagnostic tools to identify underlying bleeding disorders.

School Examination Stress Precipitating Hematohidrosis in a Girl

Background: Hematohidrosis is a rare clinical disorder characterized by transient, self-limited bleeding from the eccrine sweat glands through intact skin in the absence of an underlying bleeding disorder. Clinical Description: We report a 10-year-old girl who presented with a history of bleeding from the dorsum of her right hand. The child has had recurrent episodes in the past. Many of the episodes were temporally related to her school examination. She did not have any other bleeding manifestations or susceptibility to bruising. Her general condition and systemic examination were unremarkable, and the skin underlying the bleeding site was normal and healthy. All investigations related to bleeding and coagulation parameters were within normal limits. Skin biopsy showed normal histology. Having ruled out all organic causes of bleeding, the typical history of transient episodes of bloody secretions from the skin, triggered by examination stress and normal skin histology, was consistent with a diagnosis of hematohidrosis. Management: The child responded dramatically to oral propranolol with a subsequent reduction in the frequency of the bloody sweating episodes, even during stressful times. Psychological counseling was also provided. Conclusion: In a child presenting with oozing of blood from the skin, a possibility of hematohidrosis may be considered, when all causes of bleeding diathesis have been ruled out by a thorough workup. Pediatricians need to counsel both parents and the child regarding the benign nature of the condition.

Assessing Bleeding Symptoms in Pediatric Patients With Generalized Joint Hypermobility.

To assess bleeding symptoms in patients with generalized/benign joint hypermobility (GJH), compare bleeding scores to healthy historical pediatric controls, and determine whether a correlation exists between Beighton scores and bleeding scores. Patients with GJH ages 6-21 years seen by the rheumatology department at Nationwide Children's Hospital in Columbus, Ohio were eligible. Participants/guardians completed the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool, a validated questionnaire defining the presence, severity, and frequency of bleeding symptoms. Scores of ≥3 have been associated with an underlying bleeding disorder in pediatric patients. Eighty-one patients agreed to participate. The median age was 13 years (interquartile range 10-16 years), and the mean Beighton score was 6.3 (range 4-9). Commonly observed bleeding symptoms were oral bleeding (74%), easy bruising (59%), and bleeding with minor wounds (42%). Mean and median bleeding scores were 5.2 and 4, respectively, and were significantly higher than reported bleeding scores in pediatric controls, defined as those without bleeding symptoms or a previously diagnosed bleeding disorder (P < 0.001). Although 75% of patients (95% confidence interval 64-84) had an abnormal bleeding score, only 12.3% were previously assessed by hematology for bleeding symptoms. Among patients with GJH, higher Beighton scores were not associated with higher bleeding scores (Spearman's correlation -0.08). In a cohort of pediatric patients with GJH, three-fourths of participants had abnormal bleeding scores, with the mean bleeding score significantly elevated compared to healthy controls. We propose that screening for bleeding symptoms be integrated into routine care for GJH patients, with referral to hematology for patients with bleeding concerns.

Symmetrical Posterior Lower Limb Bruising in A Qatar 2022 FIFA World Cup Fan – A Case Report

Suspected spontaneous ecchymoses may indicate rare but serious underlying bleeding disorders. By undertaking a thorough clinical assessment and appropriately safety-netting patients, clinicians can reduce the need for unnecessary investigations and follow-up. Objective: To report a case of symmetrical posterior lower limb bruising in a Qatari male football fan twelve-hours following his attendance at a Qatar 2022 FIFA World Cup match in Doha, Qatar. Background: A 36-year-old previously fit and well Qatari male presented routinely to a primary healthcare centre in Doha, Qatar, after waking with painless bruising to the posterior aspects of both thighs and calves. He attended a Qatar 2022 World Cup football match as a fan the evening before, and reported being completely well prior to this. He scored 0 on both the Bleeding Assessment Score and Wells’ Criteria for DVT. Following a thorough history, examination and laboratory studies to exclude possible bleeding disorders, a diagnosis of simple purpura was made. The patient was reviewed a week later, and confirmed complete resolution. Conclusions: Fit and well football fans presenting with bruising to the dorsum of the legs in a similar pattern can, following a thorough assessment, be diagnosed with simple purpura. Key Words: Bruising, ecchymosis, football fan, soccer fan, Fan Seat Bruising

Menorrhagia in adolescent girls with underlying bleeding disorder; A single center experience

Menorrhagia in adolescent girls with underlying bleeding disorder; A single center experience

Iron Deficiency Anemia and Von Willebrand Disease in Women with Menorrhagia

Introduction Von Willebrand disease (VWD) is the most common bleeding disorder in adolescents and adult women that causes heavy menstrual bleeding (HMB) (Blood Adv 2020;13:3209-3216). HMB is defined as bleeding lasting >7 days or > 80 mL of blood per menstrual cycle; a broader definition includes an excessive blood loss that interferes with a woman´s physical, emotional, social and material quality of life; an underlying bleeding disorder should be considered if IDA is present (Am J Obstet Gynecol 2009;201:12.e1-12.e8 and Blood 2018;132:2134-2142). Objective Identify VWD causing HBM in patients with IDA. Materials and Methods Retrospective databased study from 2017 to 2021 of 292 women with IDA due HMB referred to our Institution. HMB was not related to systemic disease, hormonal disorders, renal or hepatic disease. The IDA studies included CBC, iron panel with ferritin levels; diagnosis was based in Clinical Guidelines: Hb< 12 gr/L, transferrin saturation (TS) <20% and ferritin <15 mcg/L (Adv Ther 2021;38:201-225); in all cases sonography was performed to rule out ovarian cyst and fibroma. For VWD, personal and familiar history of bleeding were assessed, studies included bleeding time, fibrinogen, factor VIII, factor XIII, vW antigen and vW activity on first to fourth day of menstruation, all studies were performed twice in different menstrual cycle; diagnosis was based in review articles: vW below 50 IU and bleeding history, including IDA (Hematol Oncol Clin N Am 2021;35:1085-1101). Results From 292 women with IDA, 23 (7.9%) was diagnosed with VWD. Age ranges from 14 to 54 years, median 21. vW antigen levels from 3 to 47 IU, median 28 IU. vW activity 4 to 45 IU, median 27 IU. Eleven patients had vW activity levels below 30 IU and had more significant history of mucocutaneous bleeding: epistaxis 52%, cutaneous bleeding 45%, oral cavity bleeding 42%; compared with 12 patients with vW activity between 31 and 50 IU: epistaxis 35%, cutaneous bleeding 19%, oral cavity bleeding 15%. Both groups had similar frequency of bleeding after surgical and dental procedure, 46% and 44% respectively. Treatment for IDA included oral and IV iron; treatment for HMB included hormonal therapy, desmopressin and tranexamic acid. Discussion VWD has been objectively reported in México in the first systematic analysis (Haemophila 2013;19:231-235); this observation was made mainly in mestizos of Spanish heritage and the true frequency could not be determinate, as is in the case in the majority of studies in countries worldwide; from 133 patients with bleeding disorders, 53 (39.8%) had VWD. In 124 Mexican women with history of postpartum hemorrhage, VWD was diagnosed in 61 (49.2%) (Haemophilia 2020;26:97-105). In a more recently study, VWD rate was estimated in 7.2 per million inhabitants in western Mexico (Haemophilia 2022;21:e78-e87). Our study demonstrates that VWD is present in Mexican population and has almost a rate of 8% in women with HMB, similar to reported in other studies, but this rate may be underrepresented and underdiagnosed as is in general population because lack of hematologists and diagnostic test in smaller cities, and misconception of the disease, as Mexico has heritage from Spain, England and France among other European countries with higher rates of VWD. Our study also compares the levels of VW factors, and found that patients with low levels of VW (31-50 IU) has the same bleeding phenotype as patients with VWD (< 30 IU), supporting that VWD should be diagnosed in patients with bleeding manifestations and VW factor below 50 IU (Hematol Oncol Clin N Am 2021;35:1085-1101). Finally, based in our results we recommend to investigate for VWD in patients with IDA from HMB.

Abstract 15478: Obscure Back Pain - A Case of Spontaneous Retroperitoneal Bleed

Introduction: We present a case of spontaneous retroperitoneal bleed that presented as back pain until it required multiple transfusions. Case presentation: A 66-year-old gentleman with past medical history of only dyslipidemia, presented with chest pain and was found to have an anterior wall ST-elevation myocardial infarction. He underwent stenting to proximal LAD and was found to be in cardiogenic shock with elevated biventricular filling pressures and ejection fraction of 5-10%. IABP was inserted, which had to be upgraded to axillary Impella 5.5 the next day, and LVAD workup was initiated. He gradually improved with decreasing Impella needs when he started complaining of back pain 5 days into his admission. At the same time, his Impella requirements started to go up. He went on to develop sweating, pallor &amp; hemodynamic compromise. Since he was on anticoagulation due to Impella, a CT scan was obtained, which showed a spontaneous left-sided retroperitoneal bleed (F1) (IABP had been on the right side) and drop in hemoglobin from 15.8 mg/dl on admission to 7.2 mg/dl. He went on to develop hemorrhagic shock requiring massive blood product transfusion with subsequent vessel embolization by interventional radiology. Afterwards, he continued to improve, and Impella was eventually removed. Later in the course, he had another drop in hemoglobin &amp; was taken back for CT, which showed expanding retroperitoneal hematoma (F2). Hematology team was consulted due to 2 spontaneous bleeds; however, no underlying bleeding disorder was suspected. He stabilized; was weaned off of Impella and, was subsequently discharged on milrinone infusion. Conclusions: We conclude that providers highly suspect retroperitoneal bleeds in the proper clinical setting for optimum patient care.

Saddle Pulmonary Embolism in Patients with Cancer in the Era of Incidental Events: Clinical Findings and Outcomes in a Single Centre Cohort.

Background There is scarce information regarding the prevalence and clinical impact of saddle pulmonary embolism (PE) in patients with cancer. Objectives This study aimed to assess the prevalence, clinical findings, and short-term outcomes of patients with cancer-related saddle PE including acute symptomatic and unsuspected events. Patients/Methods Consecutive patients with cancer-related PE (March 1, 2006–October 31, 2014) were retrospectively reviewed by a chest radiologist to assess PE burden and signs of right ventricular (RV) overload. The clinical outcomes within 30 days were evaluated according to saddle versus nonsaddle PE. Results Thirty-six (12%) out of 289 patients with newly diagnosed cancer-related PE presented with saddle PE. Saddle PE was found in 21 cases (58%) with acute symptomatic PE and the remaining 15 cases (42%) were found as unsuspected findings. Patients with saddle PE had more frequently experienced a previous thrombotic event (31 vs. 13%; p = 0.008), and it occurred more frequently as an acute symptomatic event (58 vs. 39%; p = 0.025) compared with those with nonsaddle PE. Signs of RV overload including RV/left ventricle ratio ≥1 (22 vs. 4%; p < 0.001) and interventricular septum displacement (53 vs. 20%; p < 0.001) were also more common in patients with saddle PE compared with nonsaddle PE. Overall, PE-related mortality, venous thromboembolism recurrence, and major bleeding within 30 days were found to be similar according to saddle versus nonsaddle PE. Conclusion Saddle PE is not uncommon in patients with cancer-related PE including in those with unsuspected PE. Similar 30-day outcomes were found according to saddle versus nonsaddle PE in our cohort.

051 Heavy menstrual bleeding in teenagers: Haematological issues

Up to one in three adolescent girls who present to the gynecologist with heavy menstrual bleeding (HMB) may have an underlying bleeding disorder [ [1] Zia A. Jain S. Kouides P. Zhang S. Gao A. Salas N. et al. Bleeding disorders in adolescents with heavy menstrual bleeding in a multicenter prospective US cohort. Haematologica. 2020; 105: 1969-1976 Crossref PubMed Scopus (18) Google Scholar ]. Unfortunately, this often remains unrecognized evidenced by an average diagnostic delay of 14–16 years for women who are diagnosed with a congenital bleeding disorder [ 2 Kirtava A. Crudder S. Dilley A. Lally C. Evatt B. Trends in clinical management of women with von Willebrand disease: a survey of 75 women enrolled in haemophilia treatment centers in the United States. Haemophilia. 2004; 10: 158-161 Crossref PubMed Scopus (91) Google Scholar , 3 Atiq F. et al. Major differences in clinical presentation, diagnosis and management of men and women with autosomal inherited bleeding disorders. EClinicalMedicine. 2021; 32: 100726 Abstract Full Text Full Text PDF PubMed Scopus (7) Google Scholar ]. Even in the high resource setting, screening rates for von Willebrand disease, the most common inherited bleeding disorder, are strikingly low, despite ACOG recommendations [ [4] Jacobson A.E. Vesely S.K. Brien S.H.O. Campbell J. Patterns of von Willebrand disease screening in girls and adolescents with heavy menstrual bleeding. Obstet Gynecol. 2018; 131: 1121-1129 Crossref PubMed Scopus (15) Google Scholar ]. Missed diagnosis may lead to social impairment, psychological and physical problems caused by inadequate treatment and subsequent complications.

Into a brave new world: Haemophilia A & von Willebrand Disease Surgery with novel therapies.

Haemophilia & von Willebrand disease are both recognised inherited bleeding disorders. With increased access to highly efficient and safe replacement and novel therapies, management of surgical interventions in this group can be safely managed by experienced multidisciplinary teams. To review the evidence for managing surgery in the era of novel therapies. We explore four cases and establish the role of the clinical nurse specialist within the surgical pathway. All of these cases evidence the continued important role of both the multidisciplinary planning prior to any surgical interventions in people with bleeding disorders and the key role of the Nurse Specialist in ensuring this plan is then implemented. Key focuses of communication with all parties involved in the patient journey, performing education for the patient, family and wider healthcare team about the underlying bleeding disorder and the importance of time critical medicines being given on time is essential. These cases demonstrate that individuals with bleeding disorders are at risk of developing other rare conditions alongside their life long condition, in addition to comorbidities associated with ageing. Evidence for rare plus rare is likely to be minimal as demonstrated within the cases, and recognition of how to reach out to international peers in the field is important. Sharing complex case management at national & international meetings and in publication has never been so important.

Bone health in haemophilia carriers and persons with von Willebrand disease: A large database analysis.

Persons with haemophilia(PWH) have been shown to have low bone mineral density likely the result of prolonged immobility, recurrent hemarthrosis, decreased weight bearing, lower physical activity level and obesity. Bone health has been poorly characterized in haemophilia carriers (HC) and persons with von Willebrand disease (PWvWD). To estimate the prevalence of osteoporosis, osteoarthritis and bone fractures in HC and PWvWD and identify risk factors for poor bone health. This is a retrospective study using a population level, commercial database - Explorys (IBM Watson Health, Cleveland, USA). We compared prevalence rates of osteoporosis, osteoarthritis and fractures among cases (HC or PWvWD) and controls (general population without an underlying bleeding disorder) from 1999 to 2020. Prevalence of common risk factors for poor bone health were compared among cases and controls. Among 72,917,850 active persons in the database, we identified 940 women with the diagnosis of HC and 19,580 PWvWD. Among HC and PWvWD, prevalence of osteoporosis, osteoarthritis and fractures were significantly higher in cases, when compared to controls. In HC, the prevalence of vitamin D deficiency, obesity, hypothyroidism, smoking, diabetes mellitus, hypocalcaemia, corticosteroid use, malignancy, renal failure and Nonsteroidal anti-inflammatory drugs (NSAID) use were significantly higher among the cases. In PWvWD, the prevalence of risk factors was significantly higher in cases when compared to controls. The prevalence of osteoporosis, osteoarthritis and fractures is significantly higher among HC and PWvWD. This data highlights the importance of screening patients for risk factors for poor bone health and provide education to prevent these complications.

Epistaksis ile Başvuran Olgularda Kanama Diyatezi Oranı ve Pediatrik Kanama Skorunun Tanıdaki Değeri

Objective: Epistaxis is a common condition in the childhood age group. However, it is important to diagnose the underlying bleeding disorders in children presenting with this complaint. Simple methods to be used in primary health care are needed to determine whether patients have bleeding disorders. This study aims to evaluate patients presenting with epistaxis with the bleeding questionnaire and determine the diagnostic value of patients with symptomatic but normal hemostatic tests. Methods: Seventy-seven children with epistaxis were included in the study group and 20 healthy children in the control group. Pediatric Bleeding Questionnaire (PBQ) was used for evaluation. Results: In our study, 19.4% (n = 15) of the patients were diagnosed with bleeding diathesis (vWh: 10, rare factor deficiency: 5). The mean age at presentation was 8.99 ± 3.42 (3-17) years. Thirty-seven (48%) were girls and 40 were boys. In terms of PBQ epistaxis score, there was no statistically significant difference between those with and without bleeding diathesis. However, the overall score was not statistically different; it was higher in the group with bleeding diathesis. The cutaneous bleeding score was higher in the group with bleeding diathesis and there was a statistically significant difference. Conclusions: This study showed that bleeding scores can be used in patients with epistaxis who apply to primary health care institutions and patients with high overall scores and cutaneous bleeding scores should be directed to the hematologist for further research.Keywords: Epistaxis, bleeding diathesis, bleeding score

Hematuria in Children with Spinal Injury

The presence of red blood cells (RBCs) in urine is hematuria, even in microscopic amounts alarms the patient and parents of the patient, and often prompts physician for many laboratory investigations. Hematuria can be red, dark or cola-colored, or brown known as macroscopic hematuria, and when it is not visible to the unaided eye, it is known as microscopic hematuria. RBCs in urine is one of the most important signs of genitourinary tract disease; however, it is almost never a cause of anemia, since few drops (1 mL) of blood can turn 1 L of urine into red-colored urine. Overall the physician should be alert enough not to overlook serious conditions like neoplasms and underlying bleeding disorder, to avoid unnecessary and often expensive laboratory studies. This article provides an approach to the evaluation and management of hematuria in children, and the detection of preventable and treatable conditions at the earliest to limit the disease progression, and an overall reduction in cost, energy, and anxiety. The patients are spinal cord injured patients with lower urinary tract dysfunction; special consideration of pediatric and elderly populations is presented separately. The target audience is healthcare providers who are engaged in the medical care of patients with spinal cord injury. The mandatory assessment includes medical history, physical examination, frequency-volume chart, urinalysis, blood chemistry, transabdominal ultrasonography, measurement of postvoid residual urine, uroflowmetry, and video-urodynamic study. Optional assessments include questionnaires on the quality of life, renal scintigraphy, and cystourethroscopy. The presence or absence of risk factors for renal damage and symptomatic urinary tract infection affects urinary management, as well as pharmacological treatments. Further treatment is recommended if the maximum conservative treatment fails to improve or prevent renal damage and symptomatic urinary tract infection. In addition, management of urinary incontinence should be considered individually in patients with risk factors for urinary incontinence and decreased quality of life. Keywords: Children; Kidneys, bladder, neurogenic, injuries, spinal cord, spinal cord disorders, ; RBC cast; Red blood cells; Urine, ASIA (American Spinal Injury Association)