Congenital hemophilia B is a rare X-linked recessive bleeding disorder caused by factor IX deficiency. Acquired hemophilia A is a rare, acquired bleeding disorder that presents with new-onset bleeding, especially in older adults, due to the development of auto-antibodies against factor VIII (FVIII). This case report presents the medical management of a patient with congenital hemophilia B and acquired hemophilia A. We highlight the limitations of maintaining factor levels with factor replacement therapy alone, particularly in hemophilia patients who have developed factor inhibitors. In addition, we draw attention to the need for dose escalation, the cost, and the need for immune-tolerance induction therapy. This case illustrates that when the current diagnosis does not explain the full clinical picture and laboratory data are inadequate, it is important to continue to seek alternative diagnoses and cost-effective treatment.
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http://dx.doi.org/10.1097/MBC.0000000000001306 | DOI Listing |
Res Pract Thromb Haemost
January 2025
Department of Pediatrics and Pathology, University of Michigan, Ann Arbor, Michigan, USA.
Congenital hemophilia A (HA) disease severity has traditionally been categorized according to intrinsic factor (F)VIII levels, with <1% of normal indicating severe HA, 1% to 5% moderate HA, and 6% to 40% mild HA. However, mounting evidence illustrates considerable variability in bleeding phenotype regardless of FVIII level. Despite treatment advances, people with moderate or mild HA may be neglected, as treatment guidelines and established norms focus on FVIII levels, and many clinical trials do not include people with FVIII > 1%.
View Article and Find Full Text PDFOrphanet 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 PDFJ Clin Med
December 2024
Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, NSW 2145, Australia.
This perspective discusses the critical role of laboratory assessments in assessing factor VIII (FVIII) inhibitors. These are auto- and alloantibodies that can develop against both endogenous and exogenous FVIII, respectively. Assessment for inhibitors represents a key part of the management of both congenital hemophilia A (CHA), an inherited deficiency, and acquired hemophilia A (AHA), an autoimmune condition.
View Article and Find Full Text PDFCureus
December 2024
Department of Medicine, Assam Medical College and Hospital, Dibrugarh, IND.
Background and objective Hemophilia A (HA) is a genetic bleeding disorder caused by a lack of factor VIII (FVIII) and is associated with frequent bleeding and joint damage. Traditional intravenous treatments for this condition are cumbersome and can lead to complications. Emicizumab, a bispecific monoclonal antibody, offers a promising subcutaneous alternative with potential safety and efficacy-related benefits.
View Article and Find Full Text PDFBMJ Open
December 2024
Department of Paediatrics, Nara Medical University, Kashihara, Japan.
Introduction: Emicizumab prophylaxis is approved for people of all ages with haemophilia A (HA) including infants and children. Although previous studies have demonstrated the efficacy and tolerability of emicizumab in infants with HA, real-world data on emicizumab use in infants are limited. The Haemophilia A in Infancy and NewbOrns: multi-instituional prospective observational study to assess the efficacy anD safety of Emicizumab (HINODE) study aims to evaluate the coagulation potential and safety of emicizumab prophylaxis in infants with congenital HA from birth to <12 months of age.
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