Hemophilia A with a Rare Presentation of Hemarthrosis and Arthropathy Involving Multiple Joints in a Young Male Child (original) (raw)
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Magnitude of arthropathy in patients with hemophilia: A single-center experience
Iraqi Journal of Hematology
Hemophilia is a hereditary bleeding disorder related to X chromosome due to a coagulation factor deficiency. Sixty six patients with hemophilia (PwH) A and fifty four patients with hemophilia B are until now registered at the HTC in Madagascar. The objective of this study is to describe the epidemioclinical and therapeutic profile of arthritis in Malagasy hemophiliacs at the HTC. This is a monocentric, retrospective and descriptive study extending over a period of 6 months from September 1, 2017 to March 31, 2018 including 30 cases of arthropathy. The age group between 11 and 20 and patients with hemophilia A severe were the most affected. Hemarthrosis has been frequent in 3 to 5 times a year. Arthropathy reached the knees in 70% of cases and has been debilitating in almost all of cases. Care has been essentially based on clot factor substitution. Repetition of hemarthrosis episodes leads to arthropathy which can be avoided by early infusion of concentrate clot factor.
Arthropathy in Patients with Moderate Hemophilia A: A Systematic Review of the Literature
Seminars in Thrombosis and Hemostasis, 2013
With an overall prevalence of 1:5,000 male newborns, hemophilia A (HA; the deficiency of coagulation factor [F] VIII) is one of the most common inherited coagulation disorders. The major clinical manifestation of this X-linked disease is represented by bleeding episodes, whose frequency and severity are largely related to residual FVIII plasma levels. 2 According to the current classification of hemophilia on the basis of FVIII levels, although bleeding phenotype may be rather heterogeneous, 3 subjects with FVIII levels below 1% of normal show severe disease (i.e., a severe bleeding tendency with recurrent and often spontaneous bleeds), those with FVIII levels between 1 and 5% have a moderate disease (traumatic and rarely spontaneous bleeds), and patients with 5 to 40% of FVIII activity develop mild disease (bleeding exclusively after severe trauma or invasive procedures). 4
Study of arthropathy in haemophilia a
International journal of applied research, 2016
Introduction: Haemophilia is the most common inherited X linked severe bleeding disorder. Screening and early detection of haemophilic arthropathy along with prophylactic factor and physiotherapy decreases complication and disability. Hence this study was conducted to detect arthropathic changes and its severity in haemophilic children. Aims and Objectives: To study cases of arthropathy and to assess the severity of arthropathy in Haemophilia A patients. Methodology: Diagnosed cases of Haemophilia A Patients who came to Dr. D.Y. Patil Medical College, Pune were enrolled during study period i.e. October 2013 to September 2015 who fulfilled the inclusion criteria. A standard proforma was used to get the detailed history and the examination findings along with X ray Knee and MRI Knee were evaluated and statistically analysed. Results: Out of 50 subjects majority 84% were symptomatic & 16% were asymptomatic. Pain was the major complaint in 84%, followed by swelling 80% and restriction o...
Hemophilic Arthropathy: Barriers to Early Diagnosis and Management
Journal of Blood Medicine
Hemophilia is a congenital coagulopathy characterized by a deficiency of one of the clotting factors. It is characterized by the development of hematomas and hemarthrosis, either spontaneously or after minor trauma. The recurrence of hemarthroses leads to progressive and degenerative joint damage from childhood (hemophilic arthropathy). This arthropathy is characterized by disabling physical effects that limit the functionality and quality of life of these patients. Medical progress achieved over the last decade in the drug treatment of hemophilia has improved the medium and long-term prospects of patients with more effective and long-lasting drugs. The universal use of safer, more effective and prolonged prophylactic treatments may promote the prevention of bleeding, and also therefore, of the development of hemarthrosis and joint damage. A number of imaging instruments have been developed for the assessment of hemarthrosis and hemophilic arthropathy, using ultrasound, magnetic resonance imaging and simple radiology. Different physical examination scores and questionnaires allow the assessment of joint health, self-perceived activity and functionality of patients with hemophilia. The approach to these patients should be interdisciplinary. Assessment of the processes that affect pain in these patients and the development of pain education models should be implemented. Expert advice and information to patients with hemophilia should be based on individual functional prevention diagnoses, advice on available therapies and sports practice, as well as health recommendations.
Arthroscopy, Sports Medicine, and Rehabilitation, 2020
The purpose of this study was to raise awareness and recommend management of a rare but morbid complication following knee arthroscopy: recurrent hemarthrosis in the setting of previously undiagnosed hemophilia. A 17-year-old male without prior personal or family history of bleeding disorders underwent an uneventful partial lateral meniscectomy and had several subsequent episodes of hemarthrosis beginning 10 days after surgery. This study helps to elucidate a strategy for diagnosis and management of this uncommon but morbid complication. A heightened level of suspicion for possible underlying coagulopathy and early involvement of the hematology service are of paramount importance in the management of patients with unexplained recurrent hemarthrosis following routine arthroscopic procedures.
Haematologica, 2015
Recent evidences suggest that patients with severe hemophilia B may have a less severe disease compared to severe hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe hemophilia A and hemophilia B, 70 patients with hemophilia A and 35 with hemophilia B with at least one joint bleeding were consecutively enrolled. Joint bleedings (<10, 10-50, >50), regimen of treatment (prophylaxis/on demand), World Federation of Hemophilia, Pettersson and ultrasound scores, serum soluble RANK ligand and osteoprotegerin were assessed in all patients. RANK, RANK ligand and osteoprotegerin expression was evaluated in synovial tissue from 18 hemophilia A and 4 hemophilia B patients. The percentage of patients with either 10-50 or >50 hemarthrosis was greater in hemophilia A than in hemophilia B (p<0.001 and p=0.03, respectively), while that with <10 hemarthrosis was higher in hemophilia B (p<0.0001). World Federation ...
Acquired Hemophilia A in a Patient With Lumbar Disc Herniation
Spine, 2009
Objective. To summarize the clinical manifestations and treatment of acquired hemophilia A in a patient with lumbar disc herniation. Summary of Background Data. Acquired hemophilia A is a rare but potentially life-threatening hemorrhagic disorder. It is caused by the development of autoantibodies directed against coagulation factor VIII (F VIII) in adults or elderly patients, who do not have a personal or family history of bleeding episodes. The mortality is high if the diagnosis was missed or delays, especially after a surgery. Methods. A case was investigated retrospectively and the relevant literature was reviewed. Results. A 59-year-old man with a 1-year history of lower back and leg pain was admitted to the hospital. He has no family medical history of hemophilia A and the routine laboratory examination did not find abnormality on blood coagulation function. He underwent decompression by laminectomy and discectomy. Seven hours after operation, it was found that the incision was oozing profusely and hemoglobin was reduced gradually, though platelet count was within the normal range. He was diagnosed with acquired factor VIII (FVIII) deficiency based on a prolonged activated partial-thromboplastin time (61.0 seconds), reduced FVIII activity (4.2%), and FVIII inhibitor (8 BU). After treatment with hemodynamic stabilization and immunosuppression therapies (including transfusion of packed red blood cells, fresh frozen plasma, and cryoprecipitate) and administration of human antihemophilic globulin, corticosteroid, and cyclophosphamide, bleeding was stopped gradually. The clinical and biologic condition of the patient improved, though neurological deficit was left. Conclusion. Surgical operation may be a factor contributing to acquired hemophilia A, which, to our knowledge, has not been reported in the literature. Diagnosis of acquired hemophilia requires clinical acumen and any patient who presents with bleeding and a prolonged activated partial-thromboplastin time should be considered. Initial hemodynamic stabilization followed by treatment with immunosuppressive therapy is straightforward and highly successful.