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.
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http://dx.doi.org/10.2147/JBM.S343924 | DOI Listing |
Agri
January 2025
Department of Anesthesiology and Reanimation, Ege University Faculty of Medicine, İzmir, Türkiye.
Stromal vascular fraction (SVF) is a heterogeneous collection of cells obtained from adipose tissue through lipoaspiration and is an alter-native intraarticular treatment option, especially in osteoarthritis (OA). The anti-inflammatory and extracellular tissue repair-stimulating properties of SVF increase its effectiveness in regeneration and repair mechanisms. One of the most common symptoms of hemophilia A and B is hemophilic arthropathy (HA).
View Article and Find Full Text PDFRes Pract Thromb Haemost
January 2025
Dipartimento di Fisiopatologia Medico-chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italia.
Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures.
View Article and Find Full Text PDFTurk J Pediatr
December 2024
Division of Pediatric Hematology and Oncology, Department of Pediatrics, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Türkiye.
Background: Patients with hemophilia should be evaluated for joint health and overall health in their visits. The aims of this study were to evaluate joint health and health-related quality of life (HRQoL) in patients with mild, moderate, and severe hemophilia; determine which patient groups to focus on and whether there are any neglected patient groups.
Methods: This was a single-center, cross-sectional study.
Res Pract Thromb Haemost
November 2024
Department of Haematology, Oslo University Hospital, Oslo, Norway.
Background: The impact of nonneutralizing antibodies (NNAs) in moderate hemophilia is elusive.
Objectives: To explore the presence of NNAs in Nordic persons with moderate hemophilia A (MHA) and B (MHB) in relation to treatment modality, clinical outcome, history of inhibitor, and the corresponding factor VIII (FVIII)/factor IX (FIX) gene mutation.
Methods: A cross-sectional multicenter study covering persons with MHA and MHB in Sweden, Finland, and Norway.
Orphanet J Rare Dis
January 2025
Department of Physical and Rehabilitation Medicine, La Paz University Hospital (IdiPaz), Madrid, Spain.
Background: Clinical research has offered many definitions and fragmented perspectives of joint morbidity in haemophilia. As joint damage, pain and mobility impairment can be present without clinical record of persistent bleeding, a person-centric joint morbidity characterisation remained a priority for the haemophilia community, giving rise to the 'problem joint' concept. As diagnosing and managing joint morbidity is critical, the aim of this study was to analyse the holistic burden of problem joints in people with moderate or severe haemophilia A (HA).
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