Bleeding disorder in a Holstein calf comparable to bovine neonatal pancytopenia.

The clinical findings associated with a bleeding disorder, suspected to be an immune mediated pathogenesis comparable to bovine neonatal pancytopenia (BNP), in a 14-day-old Holstein calf are summarised. The clinical examination, clinical laboratory findings, treatment, postmortem findings and referral laboratory diagnostics are reported and discussed in relation to existing knowledge of bleeding disorders in cattle. Veterinary attention was required for a twin 14-day-old Holstein calf that was lethargic, weak and had pale mucous membranes. On clinical examination the calf was tachycardic had pale mucous membranes with petechial and ecchymotic haemorrhages on the ventral surface of the tongue, petechial haemorrhages on the vulval membranes and scleral haemorrhage. The calf received 1.1 L of whole blood from a donor cow to which the calf initially responded. The calf's health appeared to wax and wane over the following 19 days and despite further intervention, the calf died. A postmortem was carried out and samples were submitted to the state laboratory for cytological, histopathological, parasitological and serological examination. Although no exact aetiology was found, there is evidence to suggest that the bleeding disorder was immune-mediated, with a pathogenesis comparable to BNP. To the author's knowledge, this case report is the first peer-reviewed manuscript to describe the clinical presentation similar to BNP in an Australian Holstein calf.

Acquired factor XIII deficiency presenting with multiple intracranial hemorrhages and right hip hematoma: A case report.

BACKGROUND: Factor XIII (FXIII) deficiency is a rare yet profound coagulopathy. FXIII plays a pivotal role in hemostasis, and deficiencies in this factor can precipitate unchecked or spontaneous hemorrhaging. Immunological assays for detecting FXIII inhibitors are indispensable for diagnosing acquired FXIII deficiency; however, the availability of suitable testing facilities is limited, resulting in prolonged turnaround times for these assays. CASE SUMMARY: In this case study, a 53-year-old male devoid of significant medical history presented with recurrent intracranial hemorrhages and a hematoma in the right hip. Subsequent genetic analysis revealed a homozygous mutation in the ACE gene, confirming the diagnosis of acquired FXIII deficiency. CONCLUSION: This case underscores the significance of considering acquired deficiencies in clotting factors when evaluating patients with unexplained bleeding episodes.

A Comparative Analysis of the Bleeding Profile and Quality of Life Among Women With Hemophilia Genotype Compared to Other Bleeding Disorders.

Introduction Women with bleeding disorders continue to be underdiagnosed as well as undertreated. Women with bleeding disorders include those with genotype for hemophilia (traditionally named hemophilia carriers), von Willebrand disease (VWD), platelet function disorders, and rare bleeding disorders. Among these women, the carriers of hemophilia are usually considered asymptomatic. The present study compares the bleeding profile and quality of life (QOL) of women and girls with hemophilia and compares it to those diagnosed with VWD and rare bleeding disorders. Methods The present study is part of a prospective observational study (August 2023-July 2028) done on women and girls >12 years in two groups. Group 1 was mothers, sisters, or daughters of patients with hemophilia A who were proven carriers. Group 2 was girls and women registered at our center as following bleeding symptoms and diagnosed as either suffering from VWD or rare bleeding disorders. The bleeding profile was assessed by 1:1 interview using the International Society on Thrombosis and Haemostasis (ISTH) Bleeding Assessment Tool (BAT). Health-related QOL (HRQOL) was assessed using the EuroQOL five dimension (EQ5D5L) questionnaire. Results The baseline data collected in the first six months of this prospective study is being presented here. At the time of submission, the center caters to 970 patients with hemophilia and inherited bleeding disorders. Eighty girls (post pubertal) and women with either obligate carrier status for hemophilia (n=68) or a previously diagnosed bleeding disorder (10 VWD, one afibrinogenemia, one factor VII deficiency) were enrolled. The median age of Group 1 was 35 years (25-70 years), whereas that of Group 2 was 15.5 years (13-23 years). In Group 1 (women and girls with hemophilia (WGH)), 58 and 10 were carriers of hemophilia A and B, respectively. Additionally, 83% of WGH had more than one family member with bleeding disorder, whereas 75% of Group 2 had a positive family history. The number of family members with the same disorder ranged from 0-4. Among 68 hemophilia carrier women, 20 reported bleeding symptoms (29.4%), of which 18 reported menorrhagia, one antepartum hemorrhage, and one post-partum hemorrhage and two had joint/muscle bleeds and one each had ENT and gastrointestinal bleeding. Three of them were admitted for treatment of excessive bleeding and treated with plasma/red cells. Three women reported gynecological procedures for excessive bleeding, one was on treatment for ovarian cysts, and four received packed red cells after delivery. The BAT score above 6 was reported only in 10% of WGH. Eighteen patients had undergone a surgical procedure in their life, and three of these women required a transfusion during surgery. Only one woman reported similar complaints in her daughter. The comparative analysis of HRQOL showed a significantly worse score for Group 1 in EQ5D5L domains for pain and anxiety/depression compared to that of Group 2. Conclusions A significant proportion of previously asymptomatic women with hemophilia carrier status were recognized to have significant bleeding tendencies. The QOL of these carriers is comparable to girls with VWD and rare bleeding disorders and requires special attention.

Bleeding disorder increases the risks of complications following arthroscopic rotator cuff repair.

BACKGROUND: It is imperative to determine patients' risk factors prior to arthroscopic rotator cuff repair (ARCR), so that the physician and patient are both aware of the possible postoperative complications. However, the impact of bleeding disorders on a patient's short-term postoperative outcome has not yet been analyzed. METHODS: A national database was queried for patients undergoing ARCR from 2006 to 2018. Two patient cohorts were defined: patients with a bleeding disorder and patients without a bleeding disorder. In this analysis, outcomes including postoperative complications, hospital admission, extended length of stay, and mortality were compared between the two cohorts using bivariate and multivariate analyses. RESULTS: Of 33,374 patients undergoing ARCR, 32,849 patients (98.4%) did not have a bleeding disorder whereas 525 patients (1.6%) had a bleeding disorder. Following adjustment on multivariate analyses, patients with a bleeding disorder had an increased risk of postoperative transfusion (OR 8.11; p = 0.044), sepsis (OR 11.86; p = 0.003), hospital admission (OR 1.41; p = 0.008), and mortality (OR 8.10; p = 0.019). CONCLUSIONS: Patients with documented bleeding disorder have an increased risk of postoperative complications compared to patients without a bleeding disorder. Consequently, it is essential to recognize these risk factors to decrease postoperative complications to optimize patient outcomes and costs. LEVEL OF EVIDENCE: III.

Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys.

INTRODUCTION: Congenital factor V (FV) deficiency is a rare clotting disorder affecting ∼1 in 1,000,000, with bleeding severity that ranges broadly for poorly understood reasons. AIM: To help understand the molecular basis of the observed phenotype in FV deficient patients, the genetics and biochemistry causing a patient's FV deficiency were evaluated. METHODS AND RESULTS: A 71-year-old female, who had serious life-long bleeding upon provocation and profound menorrhagia that lead to hysterectomy, was found to have 3% of normal plasma FV antigen with normal electrophoretic mobility. Platelet FV was similarly low, although the banding pattern was less fragmented than normal. Plasma clotting activity was <1% of normal. Familial inheritance and DNA sequence analysis from peripheral blood leukocytes were consistent with novel compound heterozygosity with missense mutations in exon XVII, Leu1821 to Ser (L1821S) and exon XXV, Gly2192 to Cys (G2192C). The respective single-mutation variants were expressed and purified. Explaining why the antigen level and activity were inequivalent, thrombin activation of recombinant (r) FV/L1821S was impaired, and rFV/G2192C was unable to bind to a procoagulant phospholipid membrane. CONCLUSION: These findings are consistent with the observed phenotype, highlighting the importance of understanding FV biochemical function to rationalize clinical bleeding severity when the circulating antigen level is discordant.

Hemophilic pseudotumor in the bilateral forearms: a unique case report.

Hemophilic pseudotumor (HP) is a rarely encountered cystic mass that forms as a result of repeated bleeding from extra-articular soft tissues. HP cases have been previously documented in several locations in the body, most commonly in the femur and pelvis. To date, no upper extremity case involving the bilateral forearms has been reported. The current case involves an adult male with uncontrolled hemophilia who presented with diffuse enlargement of the bilateral forearms with associated pain. Radiographs and magnetic resonance imaging (MRI) were subsequently performed revealing variable aged hemorrhagic, expansile, lytic intramedullary lesions. In keeping with the history, a subsequent radiologic diagnosis of HP was favored, among other differentials, including benign and malignant processes with biopsy confirming the diagnosis. The hemorrhagic masses were surgically excised after initial management with factor VIII replacement. This case details a unique presentation of this pathology in the bilateral forearms and highlights the diagnostic value of radiographs and MRI in diagnosis and management.

Detection of factor XIII inhibitors in 33 patients with autoimmune factor XIII deficiency in Japan.

Autoimmune factor XIII (FXIII) deficiency (AiF13D) is a rare hemorrhagic disease. The anti-FXIII autoantibodies that cause this disease are classified into three types: type Aa inhibits the heterotetramer assembly and activation of FXIII, type Ab inhibits the enzymatic activity of activated FXIII, and type B enhances the elimination of FXIII from the blood. The former two are FXIII inhibitors and may be lethal if overlooked by conventional functional assays. To reliably detect both types of FXIII inhibitors, a new assay was developed by incorporating 5-(biotinamido)pentylamine (BAPA) into α2-plasmin inhibitor (PI-BAPA assay). This assay was tested on plasma samples from 128 participants, including 60 healthy controls, 35 patients with non-immune acquired FXIII deficiency, and 33 patients with AiF13D (29 with type Aa inhibitors and 4 with type Ab inhibitors). The PI-BAPA assay successfully detected type Aa and Ab inhibitors in 5-step dilution cross-mixing tests between patient and normal plasma. This assay also showed comparable or superior inhibition rates in the 1:1 mixing test compared to conventional ammonia release and amine incorporation assays. Receiver operating characteristic curve analysis confirmed the excellent specificity and sensitivity of this assay for determining inhibition rates, and the assay has already been used for AiF13D diagnosis.

Examining variability in the diagnosis and management of people with bleeding disorders of unknown cause: communication from the ISTH SSC Subcommittee on von Willebrand Factor.

BACKGROUND: Bleeding disorder of unknown cause (BDUC) is characterized by a bleeding phenotype in the setting of normal hemostatic testing. No standardized diagnostic criteria or treatment algorithms exist for people with BDUC. To address the unmet need, the International Society on Thrombosis and Haemostasis von Willebrand Factor Scientific Subcommittee performed a real-world survey aimed at addressing knowledge gaps, developing consensus pathways, and ultimately improving care. OBJECTIVES: We sought to determine current international clinical practices in the investigation, registration, and treatment of people with BDUC internationally. METHODS: An online structured survey was conducted of healthcare providers who managed patients with bleeding disorders using the ISTH RedCap tool. RESULTS: Two hundred sixteen respondents from 39 countries were included in the final analysis. The clinical assessment of those with a possible bleeding disorder varied, with only 55% excluding hypermobility but high levels (80%) of bleeding assessment tool usage. In hemostatic testing, only the prothrombin time and activated partial thromboplastin time tests gained universal support. Tranexamic acid was favored for prophylaxis for minor (71%)/major (59%) surgeries and pregnancy (58%), but advice on the treatment if bleeding occurred was heterogeneous. The management of heavy menstrual bleeding in women despite combined oral contraceptive pill use also proved challenging, with healthcare providers selecting multiple alternative strategies. CONCLUSION: Significant variation exists in the recognition, registration, and management of people with BDUC worldwide. This survey emphasizes the need for consensus pathways to diagnose and treat BDUC to standardize and improve care for patients internationally.

Case Report: Effective management of adalimumab-induced acquired hemophilia A with the CyDRI protocol.

Introduction: Acquired Hemophilia A (AHA) is a rare autoimmune disorder characterized by the emergence of inhibitors that specifically target coagulation Factor VIII, frequently resulting in severe bleeding episodes. Methods: We conducted a retrospective analysis of the medical records of a 68-year-old male patient who presented with adalimumab-induced AHA. Results: The patient received adalimumab, a tumor necrosis factor inhibitor antibody, as part of his treatment for rheumatoid arthritis. The patient's clinical journey, characterized by intense bleeding and coagulopathy, was effectively managed with the application of recombinant Factor VIIa (rFVIIa) and the CyDRi protocol. Discussion: The case emphasizes the importance of prompt coagulation assessment in patients with bleeding symptoms receiving disease-modifying therapy for rheumatoid arthritis that includes adalimumab therapy, considering the rare yet life-threatening nature of AHA. Additionally, this report provides an extensive review of the existing literature on drug-induced AHA, with a special emphasis on cases linked to immunomodulatory medications. Through this two-pronged approach, our report aims to enhance understanding and awareness of this severe complication among healthcare providers, promoting timely diagnosis and intervention.

The Evolution of Hemophilia Therapeutics: An Illustrated Review.

Hemophilia is a rare genetic bleeding disorder historically associated with high morbidity and mortality. Some individuals with hemophilia suffer associated chronic joint disease, chronic pain, and other physical and mental health challenges. In the last 50 years, a better understanding of the pathophysiology of the disease has resulted in extraordinary therapeutic advances leading to enhanced quality of life and increased life expectancy. We present an illustrated review of the evolution of hemophilia treatment from the development of non-factor therapies to gene therapy.

Are all fibrinogen concentrates the same? The effects of two fibrinogen therapies in an afibrinogenemic patient and in a fibrinogen deficient plasma model. A clinical and laboratory case report.

The choice of treatments for inherited, or acquired, fibrinogen deficient states is expanding and there are now several fibrinogen concentrate therapies commercially available. Patients with the rare inherited bleeding disorder, afibrinogenemia, commonly require life-long replacement therapy with fibrinogen concentrate to prevent hemorrhagic complications. Recent reports in the setting of acquired bleeding, namely trauma hemorrhage, have highlighted the potential importance of the different compositions of fibrinogen supplements, including cryoprecipitate and the various plasma- derived concentrates. Clot strength and the subsequent susceptibility of a clot to lysis is highly dependent on the amount of fibrinogen as well as its structural composition, the concentration of pro- and anti-coagulant factors, as well as fibrinolytic regulators, such as factor XIII (FXIII). This report details the effects of two commercially available fibrinogen concentrates (Riastap®, CSL Behring and Fibryga®, Octapharma) on important functional measures of clot formation and lysis in a patient with afibrinogenemia. Our report offers insights into the differential effects of these concentrates, at the clot level, according to the variable constituents of each product, thereby emphasizing that the choice of fibrinogen concentrate can influence the stability of a clot in vivo. Whether this alters clinical efficacy is yet to be understood.

The association between gynecological complaints and the uterine sonographic features in women with a history of cesarean section.

PURPOSE: The aim of this study is to investigate the association between post-cesarean sonographic uterine measures, dysmenorrhea, and bleeding disorders. METHODS: This is a cross-sectional study where 500 women with a history of only one cesarean section (CS) were recruited. A transvaginal transducer, GE RIC6-12-D was used for the acquisition of volumetric datasets 18 ± 7 months postpartum. Uterine length (UL), cervical length (CL), niche length (L), niche depth (D), niche width (W), fibrosis length (FL), fibrosis depth (FD), residual myometrial thickness (RMT), endometrial thickness (EM), scar to internal os distance (SO), anterior myometrial thickness superior (sAMT) and inferior (iAMT) to the scar, and the posterior myometrial thickness opposite the scar (PMT), superior (sPMT), and inferior to it (iPMT) were measured. Logistic regression with odds ratios (OR), 95% confidence intervals (CI) and ROC curves were utilized. RESULTS: The proportion of patients with incident post-cesarean bleeding disorders and dysmenorrhoea was 36% (CI 32%, 40%) and 17% (CI 14%, 21%) respectively. Univariate logistic regression showed that only UL was associated with bleeding disorders [OR 1.04 (CI 1.01,10.7) p value 0.005], whereas dysmenorrhea was associated with RMT [OR 0.82 (CI 0.71,0.95) p value 0.008], SO [OR 0.91 (CI 0.86,0.98) p value 0.01], and RMT ratio [OR 0.98 (CI 0.97,0.99) p value 0.03]. Multivariate logistic regression for dysmenorrhoea including SO and RMT remains statistically significant with p values <0.05 and area under the curve of 0.66. CONCLUSION: There is an association between sonographic appearance of CS scars and dysmenorrhoea. Nevertheless, the association is weak and other biological post-cesarean characteristics should be explored as potential causes.

Limited value of testing for factor XIII and α2-antiplasmin deficiency in patients with a bleeding disorder of unknown cause.

INTRODUCTION: In patients with an increased bleeding tendency, extensive diagnostic blood testing is often performed. When results of tier 1 assays of primary haemostasis are normal, protocols recommend additional testing to rule out rare disorders including coagulation factor XIII (FXIII) and α2-antiplasmin (α2AP) deficiency. AIM: To evaluate the added diagnostic value of FXIII and α2AP levels in patients with a bleeding disorder of unknown cause (BDUC). METHODS: A retrospective monocentre cohort study between August 2011 and August 2023 was conducted. In all patients with bleeding tendencies and normal diagnostic tests for von Willebrand disease and platelet function, FXIII and α2AP were measured. RESULTS: We included 158 consecutive patients; mean ISTH-BAT scores were 8.2 (SD ± 3.7) in children, 6.2 (SD ± 2.1) in men and 10.6 (SD ± 3.3) in women. Median age was 37 (range 5-79) years, 88.6% of patients were female. Patients displayed median FXIII activity of 111% (IQR = 97-131) and median α2AP activity of 112% (IQR = 103-119). Three (1.9%) patients had FXIII levels < 50%, respectively 43%, 45% and 46%. Corresponding ISTH-BAT scores were 7, 12 and 14. No α2AP levels < 60% was observed. No significant association was found between FXIII levels and ISTH-BAT scores. CONCLUSION: In our cohort of BDUC patients, no clinical relevant FXIII deficiencies were detected; absolute values were well above the 30% cutoff considered adequate for normal haemostasis. No α2AP deficiencies were detected. These data suggest that in BDUC patients, measuring FXIII or AP activity is of limited value.

Assessment of the phenotypic severity of hemophilia A: using rotational thromboelastometry (ROTEM) and APTT-clot waveform analysis.

BACKGROUND: Hemophilia A (HA) is an X-linked inherited bleeding disorder caused by reduced factor VIII (FVIII) levels. Approximately 10-15% of patients with severe HA (SHA) do not present with the anticipated bleeding pattern. Here, we assessed the phenotypic severity of hemophilia A using rotational thromboelastometry (ROTEM) and activated partial thromboplastin time-clot waveform analysis (APTT-CWA). METHODS: Patients diagnosed with hemophilia A were enrolled. Clinical phenotype assignment was performed according to the published literature, and patients were classified into four phenotypic subgroups. The whole blood sample was first run on ROTEM in INTEM mode using platelet-poor plasma, APTT was run, and the APTT-CWA graph was simultaneously recorded. RESULTS: A total of 66 patients were recruited for this study. Statistically significant differences were observed between the four phenotypically categorized groups using ROTEM and APTT-CWA. On comparing patients with mild/moderate-to-severe phenotypes (Group II) with SHA without inhibitors (Group IV), no significant difference was found for all parameters of ROTEM or APTT-CWA. The MCF, MA30, MAXV, and Alpha angle values using ROTEM were found to be the lowest in patients with SHA with inhibitors, which helped differentiate them from those with SHA without inhibitors. However, these two groups could not be differentiated using the APTT-CWA parameters. CONCLUSION: ROTEM can be used to distinguish patients with SHA with inhibitors from those with SHA without inhibitors using a combination of parameters with high sensitivity and specificity. However, APTT-CWA cannot be used to differentiate these patient groups.

Orthognathic Surgery in Patients With Von Willebrand's Disease: A Report of Four Cases and Literature Review.

Von Willebrand's disease (VWD), characterized by quantitatively or qualitatively abnormal von Willebrand factor (VWF), is the most common inherited bleeding disorder. There is limited evidence of treatment using orthognathic surgery in patients with VWD. This report focuses on four patients with VWD who underwent orthognathic surgery and received Factor VIII/VWF concentrates (Confact F) preoperatively. One patient with type 3 (severe) VWD underwent delayed extubation owing to laryngeal edema and exhibited epistaxis thereafter. No perioperative complications were observed in any of the other patients. Two of the four patients were diagnosed with VWD during preoperative screening. Most young adults do not experience general anesthesia and, therefore, may not have undergone blood tests at a hospital. Thus, preoperative screening and adoption of a multidisciplinary approach to orthognathic surgery is important in patients with bleeding disorders such as VWD. Close communication between anesthetists, surgeons, and hematologists is essential to ensure effective management during the perioperative period.

Comparison between natural rubber knee support and sponge knee support on the protection of knee joint: A crossover randomized controlled study among patients with bleeding disorders.

Background and Aims: Knee support, frequently made from sponge, is used to reduce injury. Sponge has less elasticity and durability compared with natural rubber. To our knowledge, there was no study that demonstrated the effectiveness of natural rubber and sponge in prevention of injury in children with bleeding disorders. The study aimed to demonstrate the effectiveness and satisfaction of natural rubber knee support compared with sponge knee support among children with bleeding disorders. Methods: The study consisted of three phases: (I) measuring reduced compression force, (II) producing size-appropriate knee support prototypes, and (III) conducting a randomized crossover trial, including 8 weeks wearing natural rubber knee support and sponge knee support with a 4-week wash-out period. The number of knee bleeds and user satisfaction were recorded. Results: A better compression force reduction in natural rubber (60%) than sponge (12%) was demonstrated. Knee support comprised a body part, made from natural-stretchable cotton and a protection part, made from either natural rubber or sponge. They were produced in four sizes: S, M, L, and XL and appropriately applied to 42 patients (21 hemophilia, 21 platelet disorders) with a mean (SD) age of 7.0 (2.9) years. The results from randomization showed no significant difference in the number of knee bleeds between the two knee support groups (10 vs. 7, p = 0.37). In terms of satisfaction score, the natural rubber knee supports were more durable (45.2% vs. 23.8%, p = 0.04) and easier to use (28.5% vs. 14.3%, p = 0.03). In addition, a higher percentage of parents chose natural rubber knee support when compared with sponge knee supports (71.0% vs. 29.0%, p = 0.006). Conclusion: Natural rubber knee support showed comparable effectiveness in the prevention of knee bleeding but was superior to sponge knee support in compression force reduction and satisfaction.

How to investigate mild to moderate bleeding disorders and bleeding disorder of unknown cause.

A bleeding tendency is one of the most common complaints observed by hematologists. It is challenging to differentiate a clinically insignificant bleeding from a bleeding phenotype that requires hemostatic evaluation and medical intervention. A thorough review of personal and familial history, objective assessment of bleeding severity using a bleeding assessment tool, and a focused physical examination are critical to correctly identifying suspected patients with mild to moderate bleeding disorders (MBDs). A basic laboratory work-up should be performed in all patients referred for a bleeding tendency. If a hemostatic abnormality is found such as evidence of von Willebrand disease, a platelet function disorder, or a coagulation factor deficiency, more extensive testing should be performed to further characterize the bleeding disorder. Conversely, if all results are normal the patient is considered to have bleeding disorder of unknown cause (BDUC). For patients with BDUC, further evaluation may include non-routine testing to look for rare bleeding disorders not detected by routine hemostasis tests, such as thrombomodulin-associated coagulopathy, tissue factor pathway inhibitor-related bleeding disorder, hyperfibrinolytic-bleeding disorders or impaired tissue factor production. In this review, we summarize the stepwise diagnostic procedure in MBDs and provide some insights into the biological features of BDUC.

Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm.

Factor VII (FVII) deficiency is a rare bleeding disorder that can be classified as congenital or acquired, and the majority of acquired cases are due to vitamin K deficiency or liver disease. Isolated acquired FVII deficiency is a rare occurrence and has been associated with inhibitors or auto-antibodies. Here, we describe a patient with polycythemia vera who developed systemic mastocytosis and FVII deficiency simultaneously. FVII deficiency was not caused by inhibitors and improved with antineoplastic treatment. Acquired FVII deficiency has been reported in cases of sepsis, possibly due to proteolytic degradation induced by the activation of monocytes or endothelial cells. Malignancies have been shown to cause a depletion in circulating FVII through the direct binding of cancer cells. This case report suggests a potential association between SM associated with a hematological neoplasm (SM-AHN) and acquired FVII deficiency. Further evaluations are recommended in patients with systemic mastocytosis to gain a better understanding of the relationship between pathological mast cells and clotting factor concentrations.

Congenital Afibrinogenemia With Facial Haematoma.

Congenital afibrinogenemia is a rare inherited blood disorder characterized by a deficiency of fibrinogen, leading to abnormal blood clotting. It is caused by mutations in fibrinogen genes and results in a propensity for bleeding. We present the case of a one-year-old male child with congenital afibrinogenemia who developed a left-sided facial haematoma following a fall from a walker. The child had a history of active bleeding during cannulation and had not undergone circumcision due to the risk of bleeding. This case highlights the need for timely diagnosis and appropriate management of rare bleeding disorders such as congenital afibrinogenemia. Collaboration between different specialties, including haematology and genetic counseling, is crucial for comprehensive care. The rarity of the condition underscores the importance of raising awareness among healthcare professionals. Genetic counseling and family studies are essential for assessing genetic implications and guiding decision-making. Further advancements in diagnostic tests and replacement therapy are needed to improve the management of patients with afibrinogenemia, particularly in regions with a high prevalence of consanguineous marriages.

Traumatic intracranial hemorrhage in pediatrics: Implications of factor XIII deficiency and consumptive coagulopathy in abusive head trauma evaluation.

For infants that present with intracranial hemorrhage in the setting of suspected abusive head trauma (AHT), the standard recommendation is to perform an evaluation for a bleeding disorder. Factor XIII (FXIII) deficiency is a rare congenital bleeding disorder associated with intracranial hemorrhages in infancy, though testing for FXIII is not commonly included in the initial hemostatic evaluation. The current pediatric literature recognizes that trauma, especially traumatic brain injury, may induce coagulopathy in children, though FXIII is often overlooked as having a role in pediatric trauma-induced coagulopathy. We report an infant that presented with suspected AHT in whom laboratory workup revealed a decreased FXIII level, which was later determined to be caused by consumption in the setting of trauma induced coagulopathy, rather than a congenital disorder. Within the Child Abuse Pediatrics Research Network (CAPNET) database, 85 out of 569 (15 %) children had FXIII testing, 3 of those tested (3.5 %) had absent FXIII activity on qualitative testing, and 2 (2.4 %) children had activity levels below 30 % on quantitative testing. In this article we review the literature on the pathophysiology and treatment of low FXIII in the setting of trauma. This case and literature review demonstrate that FXIII consumption should be considered in the setting of pediatric AHT.