We present a case of a 74-year-old male with a past medical history of polymyalgia rheumatica that presented as a transfer for evaluation of hematomas of the scrotum, left groin, back, and bilateral thighs. Further questioning revealed hematuria and bleeding gums for the past month. The patient complained of left thigh pain without recent fever, chills, chest pain, or shortness of breath. A physical exam showed hematomas of the left groin, scrotum, bilateral thighs, and back with an ecchymotic appearance. Initial pertinent laboratory workup showed decreased hemoglobin, leukocytosis, and elevated partial thromboplastin time (PTT). Therefore, a decision was made to obtain a CT angiogram of the abdomen and pelvis, which revealed retroperitoneal hematoma. Further diagnostic workup showed a coagulation factor VIII level of zero percent and mixing studies supporting the presence of an acquired factor VIII inhibitor. Therefore, the patient was treated with rituximab and recombinant factor VIIa, with an improvement of factor VIII levels to normal limits within a week.
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http://dx.doi.org/10.7759/cureus.33414 | DOI Listing |
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).
View Article and Find Full Text PDFHematology
December 2025
Department of Hematology, The Third People's Hospital of Chengdu, The Affiliated Hospital of Southwest Jiaotong University, Chengdu Second Clinical College of Chongqing Medical University, Chengdu, People's Republic of China.
Objectives: Whether intermediate-dose tertiary prophylaxis can improve quality of life and psychological health in adults with severe/moderate hemophilia A has not been determined. This research aims to explore the impact of intermediate-dose tertiary prophylaxis with recombinant human FVIII (rhFVIII) on quality of life, anxiety and depression in such individuals transitioned from on-demand treatment.
Methods: This retrospective analysis collected data from July 2019 to July 2022.
J Thromb Haemost
January 2025
Amsterdam UMC location University of Amsterdam, Department of Pediatric Hematology, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address:
Persons with hemophilia A (PWHA) lack clotting factor VIII (FVIII) due to a genetic mutation in the F8 gene. The administration of FVIII concentrate leads to the development of neutralizing anti-FVIII antibodies (inhibitors) in about 30% of children with severe hemophilia A. The other 70% of children do not mount a detectable antibody response, suggesting that they may have developed tolerance towards FVIII.
View Article and Find Full Text PDFJ Thromb Haemost
January 2025
BioMarin Pharmaceutical Inc., Novato, CA, USA.
Background: Valoctocogene roxaparvovec, an adeno-associated virus vector that transfers a human factor VIII (FVIII) coding sequence to hepatocytes, provides bleeding protection for people with severe hemophilia A (HA).
Objective: Determine the efficacy and safety of valoctocogene roxaparvovec with concomitant prophylactic glucocorticoids in the open-label, single-arm, phase 3b GENEr8-3 trial.
Methods: Participants with severe HA who were using HA prophylaxis received one 6x10 vg/kg infusion of valoctocogene roxaparvovec concomitantly with daily prophylactic glucocorticoids (40 mg prednisolone equivalent/d weeks 0‒8; taper to 5 mg/d weeks 9‒19).
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