Patterns of bruising in preschool children with inherited bleeding disorders: a longitudinal study

Objective The extent that inherited bleeding disorders affect; number, size and location of bruises in young children <6 years. Design Prospective, longitudinal, observational study. Setting Community. Patients 105 children with bleeding disorders, were compared with 328 without a bleeding disorder and classified by mobility: premobile (non-rolling/rolling over/ sitting), early mobile (crawling/cruising) and walking and by disease severity: severe bleeding disorder factor VIII/IX/XI <1 IU/dL or type 3 von Willebrand disease. Interventions Number, size and location of bruises recorded in each child weekly for up to 12 weeks. Outcomes The interventions were compared between children with severe and mild/moderate bleeding disorders and those without bleeding disorders. Multiple collections for individual children were analysed by multilevel modelling. Results Children with bleeding disorders had more and larger bruises, especially when premobile. Compared with premobile children without a bleeding disorder; the modelled ratio of means (95% CI) for number of bruises/ collection was 31.82 (8.39 to 65.42) for severe bleeding disorders and 5.15 (1.23 to 11.17) for mild/moderate, and was 1.81 (1.13 to 2.23) for size of bruises. Children with bleeding disorders rarely had bruises on the ears, neck, cheeks, eyes or genitalia. Conclusions Children with bleeding disorder have more and larger bruises at all developmental stages. The differences were greatest in premobile children. In this age group for children with unexplained bruising, it is essential that coagulation studies are done early to avoid the erroneous diagnosis of physical abuse when the child actually has a serious bleeding disorder, however a blood test compatible with a mild/moderate bleeding disorder cannot be assumed to be the cause of bruising

Preventing perioperative bleeding in patients with inherited bleeding disorders

Data sources: Cochrane Cystic Fibrosis and Genetic Disorders Group's Coagulopathies Trials Register, a regularly updated database informed by trials identified within electronic databases including MEDLINE. Further defined searches were undertaken in PubMed, Embase, The Cochrane Library, ClinicalTrials.gov and WHO International Clinical Trials Registry Platform. Additional hand searching of relevant journals and books of conference proceedings was undertaken. Study selection: Randomised and quasi-randomised controlled trials in people of all ages with haemophilia or VWD undergoing oral or dental procedures using antifibrinolytic agents (tranexamic acid (TXA) or epsilon aminocaproic acid (EACA)) to prevent perioperative bleeding compared to no intervention with or without placebo. Data extraction and synthesis: Two authors independently assessed identified publications for inclusion based on defined selection criteria. The two authors performed data extraction and risk of bias assessments using standardised forms and the Cochrane risk of bias tools. A third author, deemed to have particular subject expertise, verified eligibility of inclusion. Results: One randomised, double-blinded placebo controlled trial and one quasi-randomised trial were included. A total of 59 participants with haemophilia undergoing dental extraction were involved. Both trials evidenced a notable reduction in post-operative bleeding following dental extraction when either TXA or EACA were used, in addition to routine preoperative factor replacement, when compared to placebo. The number of post-operative bleeds, amount of blood loss and the need for additional clotting factors were reduced in the groups receiving antifibrinolytic therapy. No eligible trials in people with VWD were identified. Conclusions: Low quality evidence exists to support the use of adjuvant antifibrinolytic therapy to reduce perioperative bleeding in patients with haemophilia undergoing dental extraction. The limited number of trials identified (N=2), minimal sample size (N=28, N=31) and historic nature of the studies, originating from the 1970s, in addition to study heterogeneity and subsequent selection bias results in a low quality evidence grade for recommending adjuvant antifibrinolytic therapy. There is no clear indication to alter current practice utilising antifibrinolytic therapy to manage patients with haemophilia undergoing dental surgery in accordance with internationally accepted guidelines. However, further research with standardised study deigns would be welcomed in order to enhance the evidence base in the management of people with haemophilia and VWD

Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia

The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively. Inhibitors compromise the management of hemorrhage in affected patients, with a considerable increase in complications, disability, and costs. While these alloantibodies have been extensively studied in the past years in hemophilia A and B, those occurring in patients with other inherited bleeding disorders are less well characterized and still poorly understood, mostly due to the rarity of these hemorrhagic conditions. This narrative review will deal with inhibitors arising in patients with inherited bleeding disorders other than "classical" hemophilia, focusing in particular on those developing in patients with congenital deficiency of coagulation factor V, factor VII, factor XI, and factor XIII

Preface

Reproductive tract bleeding in women is a naturally occurring event during menstruation and childbirth. In women with menorrhagia, however, congenital bleeding disorders historically have been underdiagnosed. This consensus is intended to allow physicians to better recognize bleeding disorders as a cause of menorrhagia and consequently offer effective disease-specific therapies. © 2009 Mosby, Inc. All rights reserved

Subdural Hematoma in Grave’s Disease Induced Thrombocytopenia.

Subdural hematoma (SDH) usually occurs secondary to trauma, in bleeding disorders it may occur spontaneously. It is a rare complication of immune thrombocytopenia. Here we report a case of 45 years female presenting with presenting with complaints of headache, palpitation and menorrhagia and later diagnosed to be a case of Grave's disease with thrombocytopenia with sub dural hematoma. No such case reports are available in literature

The feasibility of wireless capsule endoscopy in detecting small intestinal pathology in children under the age of 8 years: a multicentre European study.

Objective: To systematically evaluate the feasibility and methodology to carry out wireless capsule endoscopy (WCE) in children <8 years to define small intestinal pathology. Design: Prospective European multicentre study with negative prior investigation. Patients and interventions: 83 children aged 1.5–7.9 years were recruited. Initially, all were offered “swallowing” (Group 1) for capsule introduction. If this failed endoscopic placement (Group 2) was used and the Roth net, Advance or custom-made introducers were compared. Outcome measures: Primary endpoint: to determine pathology; secondary endpoint: comparison of capsule introduction methods. Results: Capsule introduction: 20 (24%) children aged 4.0–7.9 years (mean, 6.9 years; 14 male) comprising Group 1 were older (p<0.025) than 63 (76%) aged 1.5–7.9 years (mean, 5.25 years; 30 male) forming Group 2. Complications: Roth net mucosal trauma in 50%; no others occurred. The available recording apparatus was inappropriate for those <3 years. Indications: gastrointestinal bleeding: n = 30 (16 positive findings: four ulcerative jejunitis, four polyps, two angiodysplasia, two blue rubber blebs, two Meckel’s diverticula, one anastomotic ulcer, one reduplication); suspected Crohn’s disease: n = 20 (11 had Crohn’s disease); abdominal pain: n = 12 (six positive findings: three Crohn’s disease, two lymphonodular hyperplasia, one blue rubber bleb); protein loss: n = 9 (four lymphangectasia); malabsorption: n = 12 (seven positive findings: six enteropathy, one ascaris). No abnormalities overall: 45%. Conclusion: WCE is feasible and safe down to the age of 1.5 years. 20 children >4 years swallowed the capsule. The Advance introducer proved superior for endoscopic placement. The pathologies encountered showed age specificity and, unlike in adolescents, obscure gastrointestinal bleeding was the commonest indication

Forensic and clinical diagnosis in shaken baby syndrome , between child abuse and iatrogenic abuse

“Shaken baby syndrome” in child abuse cases is a challenge for pediatrician and forensic experts, often a diagnosis of exclusion, with overwhelming moral and legal implications. Diagnosis is based on: subdural bleeding, rupture of retinal vessels, traumatic diffuse axonal injury with diffuse brain encephalopathy in the absence of external traumatic injuries and anamnesis data of an accidentally head injury. Microscopic findings in diffuse axonal injuries were initially considered as a specific traumatic effect due to unrestricted movement and accelerated rotation of the head. Immunohistochemistry of beta amyloid protein precursor is gold standard method for identifying pathological diffuse axonal lesions, which is however non-specific in brain trauma. In the diagnosis of this syndrome pediatricians and forensic examiners must take into account the particularities of each case, avoiding scientific speculation, to intuit controversies and always be familiar with the differential diagnosis

Combined Factor VII and X Deficiency

Factor VII deficiency and factor X deficiency and very rare disorders individually. Combined Factor VII and X is a rare congenital blood disorder with very few cases reported in the literature. We report a case of 7 years old male child who presented to us as a diagnosed case of factor 7 deficiency with recurrent epistaxis

A review of evidence about behavioural and psychological aspects of chronic joint pain among people with haemophilia

Joint pain related to haemophilia affects large numbers of people and has a significant impact on their quality of life. This article reviews evidence about behavioural and psychological aspects of joint pain in haemophilia, and considers that evidence in the context of research on other chronic pain conditions. The aim is to inform initiatives to improve pain self-management among people with haemophilia. Reduced pain intensity predicts better physical quality of life, so better pain management should lead to improved physical quality of life. Increased pain acceptance predicts better mental quality of life, so acceptance-based approaches to self-management could potentially be adapted for people with haemophilia. Pain self-management interventions could include elements designed to: improve assessment of pain; increase understanding of the difference between acute and chronic pain; improve adherence to clotting factor treatment; improve knowledge and understanding about the benefits and costs of using pain medications; improve judgments about what is excessive use of pain medication; increase motivation to self-manage pain; reduce negative emotional thinking about pain; and increase pain acceptance. The influence of behavioural and psychological factors related to pain are similar in haemophilia and other chronic pain conditions, so there should be scope for self-management approaches and interventions developed for other chronic pain conditions to be adapted for haemophilia, provided that careful account is taken of the need to respond promptly to acute bleeding pain by administering clotting factor

Management of severe epistaxis during pregnancy: a case report and review of the literature

Epistaxis is a common problem during pregnancy. Few cases of severe epistaxis, not associated with nasal lesions or clotting disorders, were described in the literature. We reported a case of severe epistaxis in a pregnant patient, exploring all the different possible management options