bleeding disorder
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2022 ◽  
Vol 11 (6) ◽  
pp. 685-689
Author(s):  
Abdi Meriem ◽  
Zemani-Fodil Faouzia

Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the F8 gene. Several F8 mutations are responsible of HA including intron 1 and 22 micro-inversions, large and small deletions, insertions, duplications, and point mutations. In a previous study, we determined the molecular causes of HA in 85% of patients group studied. However, no mutation were found in three unrelated patients origi-nating from Western Algeria. In the present study, we sought to characterize the molecular origin of HA in three patients by investigating rearrangements in the F8 gene using the MLPA method. Comparaison between case results and healthy controls showed absence of deletions or duplications in the F8 gene in these three hemophiliacs A patients. This finding has already been reported in many studies where any F8 mutation or rearrangement has been identified. Further analysis are required in order to determine the molecular origin of the disease in these families. It would be very interesting to look for deep intonic mutations and to study epigenetic mechanisms as well as DNA methylation and miRNAs.


2021 ◽  
pp. 107110072110581
Author(s):  
Alisa Malyavko ◽  
Theodore Quan ◽  
William T. Stoll ◽  
Joseph E. Manzi ◽  
Alex Gu ◽  
...  

Background: Open reduction and internal fixation (ORIF) of the ankle is a common procedure performed to correct ankle fractures in many different patient populations. Diabetes, peripheral vascular disease, and osteoporosis have been identified as risk factors for postoperative complications following surgery for ankle fractures. To date, there have not been any studies evaluating postoperative outcomes in patients with bleeding disorders undergoing operative treatment for ankle fractures. The aim of this study was to determine the postoperative complication rate following ORIF of the ankle in patients with a bleeding disorder vs those without a bleeding disorder. Methods: From 2006 to 2018, patients undergoing operative treatment for ankle fracture were identified in the National Surgical Quality Improvement Program database. Two patient cohorts were defined: patients with a bleeding disorder and patients without a bleeding disorder. Patients who underwent either inpatient or outpatient ORIF of the ankle were included in this study. In this analysis, demographics, medical comorbidities, and postoperative complications variables were assessed between the 2 cohorts. Bivariate and multivariate analyses were performed. Results: Of 10 306 patients undergoing operative treatment for ankle fracture, 9909 patients (96.1%) had no bleeding disorder whereas 397 patients (3.9%) had a bleeding disorder. Following adjustment on multivariate analysis, compared to patients who did not have a bleeding disorder, those with a bleeding disorder had an increased risk of any postoperative complications (odds ratio [OR] 1.48, 95% confidence interval [CI] 1.05-2.08, P = .024), requirement for postoperative blood transfusion (OR 2.86, 95% CI 1.53-5.36, P = .001), and extended length of hospital stay greater than 5 days (OR 1.46, 95% CI 1.10-1.93, P = .010). Conclusion: Patients with bleeding disorders are associated with increased risk of postoperative complications following ORIF for ankle fractures. Determining patient risk factors and creating optimal preoperative and perioperative management plans in patients with bleeding disorders undergoing ORIF can be beneficial in reducing postoperative complications, improving patient outcomes, and reducing overall morbidity. Level of Evidence: Level III, retrospective cohort study.


Author(s):  
Mehrdad Payandeh ◽  
Mehrnoush Aeinfar ◽  
Kimiya Dadashizadeh ◽  
Saba Yari

Immune Thrombocytopenia (ITP) is an autoimmune bleeding disorder. Tyrosine Kinase JAK2 (JAK2 V617F) mutation occurs in nearly 60% of Essential Thrombocythemia (ET) patients. Both diseases produce impaired platelet. We describe a case with ET following ITP. So far, only 3 reports described ET following ITP. We report the fourth patient with JAK2 V617F mutation at the onset of ITP presented 20 years ago that needed splenectomy. The association of these two diseases may recommend similar pathogenic mechanisms between Myeloproliferative Neoplasms (MPNs) and ITP that should be further explored.


2021 ◽  
pp. 1753495X2110499
Author(s):  
Ayesha Ejaz ◽  
Claire O’Doherty ◽  
Faye A. Sharpley ◽  
Nicola Curry ◽  
Susan Shapiro ◽  
...  

Pregnancy-associated haemophilia A is an uncommon, acquired bleeding disorder which usually presents post-partum; very rarely it may present during pregnancy. No consensus guidelines exist on the management of this condition in pregnancy and very few cases have been reported in the literature. Here we describe the case of a woman presenting with acquired haemophilia A during pregnancy and outline the management of her bleeding disorder. We contrast her case with that of two other woman, presenting to the same tertiary referral centre, with acquired haemophilia A presenting post-partum. These cases highlight the heterogeneous management of this condition and how it may be successfully managed in pregnancy.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Toshihiro Ito ◽  
Takeharu Minamitani ◽  
Masaki Hayakawa ◽  
Ryota Otsubo ◽  
Hiroki Akiba ◽  
...  

AbstractADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type-1 motif 13)-related bleeding disorder has been frequently observed as a life-threatening clinical complication in patients carrying a circulatory assist device. Currently, treatment modalities for the bleeding disorder are very limited and not always successful. To address the unmet medical need, we constructed humanized antibodies of mouse anti-ADAMTS13 antibody A10 (mA10) by using complementarity-determining region (CDR) grafting techniques with human antibody frameworks, 8A7 and 16E8. The characteristics of the two humanized A10 antibodies, namely A10/8A7 and A10/16E8, were assessed in vitro and in silico. Among the two humanized A10 antibodies, the binding affinity of A10/16E8 to ADAMTS13 was comparable to that of mA10 and human-mouse chimeric A10. In addition, A10/16E8 largely inhibited the ADAMTS13 activity in vitro. The results indicated that A10/16E8 retained the binding affinity and inhibitory activity of mA10. To compare the antibody structures, we performed antibody structure modeling and structural similarity analysis in silico. As a result, A10/16E8 showed higher structural similarity to mA10, compared with A10/8A7, suggesting that A10/16E8 retains a native structure of mA10 as well as its antigen binding affinity and activity. A10/16E8 has great potential as a therapeutic agent for ADAMTS13-related bleeding disorder.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 2993-2993
Author(s):  
Emily Wheat ◽  
Bryn M Dunham ◽  
Whitney Tedeschi ◽  
Kim Richfield ◽  
Nancy MS Spomer ◽  
...  

Abstract Individuals with bleeding disorder diagnoses require developmentally sensitive care across the lifespan, particularly as they gain knowledge and skills necessary to successfully tackle their illness-specific needs as independent adults (Breakey et al., 2010). The current study describes one phase of a larger quality improvement (QI) initiative aimed at improving transition from pediatric to adult care (TAC) at one US Hemophilia and Thrombosis Center (HTC). Our aim was to assess the feasibility of delivering transition specific education to youth-caregiver dyads during youth annual multidisciplinary clinic appointments. Youth-caregiver dyads were selected given previous research revealing that both patients and their parents express worries about related to TAC (Geerts et al., 2008). Education included discussion of the knowledge and skills necessary for autonomous management of one's bleeding disorder (e.g., illness basics, treatment, communication, and healthy living). During an 8-month period, 101 youth-caregiver dyads were approached. Patients were between the ages of 12 and 25 (M age = 17.66, SD = 3.45). Approximately half of patients were diagnosed with hemophilia A (53.5%) and 16.8% were female. Of the 101 patients approached, 90 completed the transition education discussion. On average, these discussions took 12.80 minutes (SD = 8.49) and ranged from 5 to 50 minutes. Social work delivered the bulk of these discussions (78.7%) and spent an average of 10.61 minutes (SD = 5.76) with youth and caregivers. While the intention was to deliver transition education to youth-caregiver dyads, this only occurred in 37 discussions. Other discussions included the patient only (n = 31), caregiver only (n = 20), or had missing data (n = 1). In instances when a youth-caregiver dyad was approached, but a discussion did not take place, barriers to completing the discussion were identified. "Provider" was listed most frequently (n = 5) as a barrier (e.g., youth sent home by medical team prior to transition discussion occurring; miscommunication between members of multidisciplinary team; low staffing of those trained to deliver transition discussion). Even in instances when a transition discussion did take place, barriers to having the discussion were identified. "Patient" barriers were the most frequently listed (n = 13), followed by barriers related to "Time" (n = 11), and barriers related to "Clinic" (n = 3). At the end of the transition discussion, youth and/or caregivers were encouraged to identify a goal for improving their skills or knowledge in one of the four areas discussed during their appointment. Of those having transition discussions, 72 created a transition goal. The majority of participants reported goals related to Treatment (e.g., infusion skills; n = 36) followed by goals related to Communication (n = 18), Healthy Living (n = 11), and Bleeding Disorder Basics (n = 7). There was a statistically significant difference in the type of goal of expressed by youth and/or caregivers when the patient was 17 years old or younger vs those older than 18, X 2 (3, N = 72) = 9.49, p = 0.024. Generally, more youth reported goals related to Treatment (e.g., infusion skills) than predicted by chance in both age groups. Patients or patient caregivers were contacted via phone between 5 and 14 months following their transition discussion. Approximately 1/3 of the patients who completed transition discussion, responded and provided ratings on progress toward meeting their transition goal. Ratings (M = 4.24, SD = 2.63) were made on a Likert-type scale ranging from 1 (no progress made) to 10 (maximum progress made). The information gleaned from this QI initiative revealed that delivery of transition-specific education within the CU-HTC annual multidisciplinary appointments is feasible and in some cases, served as the impetus necessary for accomplishing transition-specific goals. The results from this initiative have been instrumental in subsequent transition-related efforts related to: (a) fostering full engagement across the multidisciplinary team in TAC efforts utilizing HEMO-Milestones Tool (Croteau et al., 2016); (b) adopting specific materials developed to assess TAC in individuals with bleeding disorder diagnoses (i.e., American Society of Hematology Hemophilia Transition Readiness Assessment); and (c) reducing time between patient goal-setting and follow-up from the HTC. Disclosures Wang: Novo Nordisk: Consultancy, Other: Clinical trial investigator; Bioverativ: Consultancy, Other: Clinical trial investigator; Bayer: Consultancy, Other: Clinical trial investigator; Octapharma: Other; uniQure: Consultancy, Other: Clinical trial investigator; Pfizer/Spark: Other: clinical trial investigator; Genentech: Consultancy, Other: Clinical trial investigator; BioMarin: Consultancy, Other: Clinical trial investigator; CSL Behring: Consultancy, Other: Clinical trial investigator; Takeda: Consultancy, Other: Clinical trial investigator; Hema Biologics: Consultancy, Other: Clinical trial investigator. Buckner: CSL Behring: Honoraria; Tremeau Pharmaceuticals: Consultancy, Honoraria; Genetech: Honoraria; Bayer: Honoraria; Spark: Honoraria; Sanofi: Honoraria; Novo Nordisk: Honoraria; Pfizer: Honoraria; BioMarin: Consultancy, Honoraria; Takeda: Honoraria; American Thrombosis: Membership on an entity's Board of Directors or advisory committees; Hemostasis Network: Membership on an entity's Board of Directors or advisory committees; uniQure: Consultancy, Honoraria.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 3201-3201
Author(s):  
Tammuella Chrisentery-Singleton ◽  
W Allan Alexander ◽  
Ahmad Al-Sabbagh ◽  
Daniel Bonzo ◽  
Michael U. Callaghan ◽  
...  

Abstract Background: A new recombinant activated factor VII, eptacog beta (SEVENFACT®, rFVIIa-jncw) has been approved by the U.S. Food and Drug Administration (FDA) for the treatment of bleeding events (BEs) in individuals >12 years of age with hemophilia A or B (HAB) with inhibitors. In the eptacog beta phase III trial (Wang, Haemophilia, 2017), 87% of BEs were successfully treated using two different dosing regimens within 12 hours of bleeding onset. In two studies looking at the safety of eptacog beta Ducore, Haemophilia, 2017), a total of 11 treatment-emergent adverse events (TEAEs) were reported in 42 participants, all mild and transitory. To date, no studies designed to assess safety of treatment of breakthrough BEs in people on emicizumab with eptacog beta have been performed. Objective: To evaluate the safety of eptacog beta when used to treat BEs in participants with HAB with inhibitors with or without prophylactic treatment. Methods: ATHN 16 (NCT04647227) is a phase IV, United States-centric multi-center, open-label safety study enrolling participants with HAB with inhibitors aged 12 to 65 years, inclusive, who are either on long-term prophylactic treatment (e.g., emicizumab) at risk of experiencing a breakthrough BE or who are not on prophylactic treatment who may need to control a BE. Exclusion criteria include any bleeding disorder in addition to HAB, a known hypersensitivity to eptacog beta or rabbit proteins, or the inability to provide informed consent. The maximum study duration for any participant in the study is up to 2 years from the time of enrollment. We plan to enroll between 28 to 55 participants with the goal of collecting data on 100 BEs. Safety of eptacog beta will be evaluated based on events included in the European Haemophilia Safety Surveillance (EUHASS) protocol, including allergic or other acute events, treatment-emergent side effects, transfusion-transmitted infections, inhibitor development, thrombosis, cardiovascular events, malignancies, neurological events, and death. After signed informed consent is obtained, demographics, bleeding disorder history, inhibitor history, baseline medical and surgical history for the 6-month period before the baseline visit will be captured. Each participant will receive nine 75 µg/kg doses of eptacog beta supplied by the study funder. Eptacog beta will be administered at the time of a BE by the participant or by study staff; the dose and duration of treatment will be determined at the discretion of the treating physician. BE details such as timing, any treatments associated with the BE (including eptacog beta), and timing of resolution of the BE will be collected as well as surgical procedures and all AEs and serious AEs. Results: At the time of abstract submission, ATHN 16, having received central IRB approval, is being rolled out across the United States Hemophilia Treatment Center Network. There are a total of 20 sites where the protocol will be conductedalex. We plan to report participant demographics, BE details, as well as all safety data meeting the EUHASS endpoints. In addition, we will report any pregnancies as AEs of special interest. All serious AEs will also be reported. The ATHN 16 Safety Analysis Set is defined as all participants who received at least a single dose of eptacog beta. Baseline characteristics will be summarized using descriptive statistics for continuous variables, and frequencies and percentages for categorical variables. The number and percentage of participants with treatment-emergent AEs (TEAEs), serious AEs (SAEs), serious TEAEs, and treatment-related TEAEs (i.e., adverse drug reactions) will be presented for all participants. The number and percentage of participants with TEAEs and/or allergic and anaphylactic reactions will be presented for all participants. There are no pre-specified efficacy endpoints. Conclusions: ATHN 16 will explore the safety of eptacog beta as therapy for BEs in participants with HAB complicated by inhibitors with or without concurrent prophylactic treatment. As the first interventional study sponsored by ATHN, ATHN 16 represents a crucial step forward in ATHN's clinical research capabilities. Disclosures Chrisentery-Singleton: CSL Behring: Consultancy, Speakers Bureau; Roche/Genentech: Consultancy, Speakers Bureau; Grifols: Consultancy, Speakers Bureau; HEMA Biologics: Consultancy, Honoraria; Novo Nordisk: Consultancy, Speakers Bureau; Octapharma: Consultancy, Speakers Bureau; Pfizer: Consultancy; Sanofi: Consultancy; Spark: Consultancy, Speakers Bureau; Takeda: Consultancy, Speakers Bureau; Kedrion: Consultancy; Biomarin: Speakers Bureau; Global Blood Therapeutics: Speakers Bureau; Bayer: Honoraria; BPL Plasma: Honoraria. Alexander: HEMA Biologics: Consultancy, Ended employment in the past 24 months; Johnson & Johnson: Current equity holder in publicly-traded company; Pfizer: Current equity holder in publicly-traded company; Roche/Genentech: Current equity holder in publicly-traded company. Al-Sabbagh: LFB: Current Employment. Bonzo: LFB: Current Employment. Callaghan: Kedrion: Consultancy; Biomarin: Consultancy; Spark: Consultancy; uniQure: Consultancy; Global Blood Therapeutics: Consultancy, Speakers Bureau; Pfizer: Consultancy; Sanofi: Consultancy; Takeda: Consultancy, Speakers Bureau; Roche/Genentech: Consultancy, Speakers Bureau; Alnylum: Current equity holder in publicly-traded company; Hema Biologics: Consultancy; Forma: Consultancy; Chesei: Consultancy; Agios Pharmaceuticals: Current Employment. Giermasz: Bayer: Consultancy; ATHN: Consultancy; NovoNordisk: Consultancy; UniQure: Consultancy, Research Funding; Sanofi Genzyme: Consultancy; Bioverativ/Sanofi: Consultancy, Research Funding, Speakers Bureau; Sangamo Therapeutics,: Research Funding; Pfizer: Consultancy; Genentech/Roche: Consultancy, Research Funding, Speakers Bureau; BioMarin: Consultancy, Research Funding. Journeycake: LFB: Honoraria; HEMA Biologics: Honoraria. Nasr: HEMA Biologics: Consultancy. Quon: Orthopaedic Institute for Children: Current Employment. Recht: uniQure: Consultancy; Takeda: Consultancy; Sanofi: Consultancy; Pfizer: Consultancy; Octapharma: Consultancy; Novo Nordisk: Consultancy; Kedrion: Consultancy; Hema Biologics: Consultancy; Genentech: Consultancy; Foundation for Women and Girls with Blood Disorders, Partners in Bleeding Disorders: Speakers Bureau; American Thrombosis and Hemostasis Network: Current Employment; CSL Behring: Consultancy; Catalyst Biosciences: Consultancy; Oregon Health & Science University: Current Employment.


Author(s):  
Selim Sayın ◽  
Arif Ülkü Yener

Aim of the study: Subconjunctival hemorrage (SCH) is a frequent bleeding manifestation and a common cause of visits to the primary care. Trauma in young patients and vascular damage such as hypertension in the elderly are the most common causes of SCH and the prevalence of hematological diseases is less than 1%. We aimed to evaluate the prevalence of congenital or acquired bleeding disorders in patients with once or recurrent SCH. Methods used to conduct the study: It is a retrospective study and included fifty-two patients with SCH whose etiologic factor was not detected. Hemostatic tests were studied in 52 patients (25 male and 27 females). All patients included were evaluated for congenital or acquired bleeding disorder and SCH with once and those with 2 or more were compared for the laboratory results. Results of the study: Type I von Willebrand disease (vWD) was diagnosed in one patient with recurrent SCH and one patient with single SCH (3.8%). The prevalence of patients with type 1 vWD in the study was not statistically significant when compared with the frequency of vWD in the normal population. Fibrinogen level was found to be statistically higher in patients who had SCH once than those who had recurrent SCH. But fibrinogen level was in normal range in all patients. Conclusions drawn from the study and clinical implications: There was no increase in the incidence of congenital or acquired bleeding disorder in SCH compared to normal population. For this reason it was thought that there was no need for evaluation for bleeding disorders in spontaneous SCH.


2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S101-S101
Author(s):  
C A Cox ◽  
H Hastings

Abstract Introduction/Objective Acquired Glanzmann Thrombasthenia is a rare bleeding disorder that is characterized by inhibition of glycoprotein IIb/IIIa signaling, usually by an autoantibody, leading to an interference in platelet aggregation. Clinically, this disorder presents with spontaneous mucocutaneous bleeding in the setting of a normal platelet count. Acquired Glanzmann Thrombasthenia has been associated with primary immune thrombocytopenic purpura (ITP), several types of hematologic and solid malignancies, solid organ transplants, and other autoimmune disorders. Methods/Case Report A 4-year-old female patient with a history of Alagille Syndrome requiring liver transplant at age 3 was admitted to the hospital after presenting to the emergency department with complaints of bruising, nosebleeds, and a petechial rash. The patient was found to have a platelet count of 11 K/mm3 and was diagnosed with ITP. The patient received a single dose of IVIG at 1g/kg with subsequent resolution of bleeding and a recovering platelet count of 27 K/mm3 12 hours after administration. However, two months later, the patient presented again with worsening bruising, multiple nosebleeds per day, and worsening petechiae. Lab studies revealed the patient’s platelet count was within normal limits. A platelet antibody screen was positive with a subsequent Platelet Antibody Bead Array revealing anti-Gp IIb/IIIa HPA-1 and HPA-3 positivity. Results (if a Case Study enter NA) N/A Conclusion Acquired Glanzmann Thrombasthenia is a rare bleeding disorder that is the result of interference with platelet aggregation. Antibodies that may be associated with any of several underlying conditions lead to impaired platelet function and subsequent mucocutaneous bleeding. The present case represents an occurrence of Acquired Glanzmann Thrombasthenia in a patient with multiple risk factors for development of the disorder.


QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Hossam Moussa Sakr ◽  
Nermeen Nasry Keriakos ◽  
Salma Ehab Mohamed Elbastawisy

Abstract Background Hemophilia is an X-linked congenital bleeding disorder, with hemophilia A comprising the majority of cases and hemophilia B. Von Willebrand disease (VWD) is a bleeding disorder of variable severity, caused by deficiency of von Willebrand factor (VWF) especially type III. The severe form of the bleeding disorders is characterized by spontaneous hemoarthrosis which occurs mainly in large synovial joints and results in hemophilic arthropathy (HA) that is characterized by soft tissue changes such as synovial hypertrophy and effusion as well as cartilage and bony damage., MRI is the gold standard, however ultrasound (US) was proven to be a sensitive tool in detecting synovial hypertrophy with results comparable to MRI, as well as differentiate between hemoarthrosis and arthritis-metiated joint pain, together with having more advantage to the MRI, making it an excellent tool in assessing disease activity. Objective To describe the value of MSK ultrasound in assessment of intra-articular findings in hemophilic arthropathy (HA) in the pediatric age group. Methods A descriptive, cross-sectional study that included 120 joints in 20 patients with bleeding disorders, (moderate or severe hemophilia A/B or vWD). Evaluated joints included elbows, knees and ankle joints on both sides for every patient. One additional patient was evaluated for a hip joint affection. The abnormal US findings among the involved joints were compared to the sonographically-normal contralateral side. We excluded patients with recent joint surgeries, those who have any other rheumatological disease. Results Out of the 120 joints examined, 28 joints showed US abnormal findings. The knee was the most common involved joint (75%), followed by the ankle (30%) then the elbow (15%). The most frequent US lesion was synovial hypertrophy (82%), followed by joint effusion (78.6%), synovial hyperemia (53%) and lastly comes the ostochondral lesions (7.1%). Other juxta-articular findings were reported as myositis, tenosynovitis and intra-/intermuscular hematoma. Hemoarthrosis was found in 6 out of 16 knee joints, 2 out of 7 ankles, yet no elbow nor hip joint bleedings were reported. There was a significant correlation between the incidence of synovial thickening, bone and cartlage damage and bleeding incidence and increasing age. A high statistical significant difference was found between the normal and abnormal joints (by US) and especially the knee and ankle joints. Conclusion MSK US has now emerged as a promising imaging modality for the early detection and management of HA, and for the evaluation of hemarthrosis and painful MSK episodes in hemophilic patients. It has a high efficacy in assessment of the soft tissue abnormalities such as synovial hypertrophy, vascularity and joint effusion, as well as late-onset degenerative changes. Global standardization of the different US scoring systems and clear definitions of the US pathologies in HA are needed with high-level MSK US training practice as well, for accurate assessment of HA using US.


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