A woman with an inherited bleeding disorder faces two main challenges: managing her symptoms medically and integrating her condition into her daily life. Health professionals have an obligation to support young girls and women affected with these disorders as they negotiate the life-cycle transition of their condition. This support should include helping women to integrate their diagnosis into a new sense of self. The psychological effects of menorrhagia can also be addressed by working with key family members such as a young patient's mother or a woman's partner to prevent the experience of body shame. Couples require support to sustain their sexual relationship and to develop communal coping strategies as they face the challenges that menorrhagia brings to their relationship. These may include both fertility and pregnancy issues. Maintaining contact with the medical team can benefit women approaching the menopause by preparing them psychologically for the change and its associated symptoms.
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http://dx.doi.org/10.1111/j.1365-2516.2011.02564.x | DOI Listing |
Expert Rev Hematol
January 2025
Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, the Netherlands.
Introduction: The clinical management of the inherited bleeding disorder von Willebrand disease (VWD) focuses on normalizing circulating levels of von Willebrand factor (VWF) and factor VIII (FVIII) to prevent or control bleeding events. The heterogeneous nature of VWD, however, complicates effective disease management and development of universal treatment guidelines.
Areas Covered: The current treatment modalities of VWD and their limitations are described and why this prompts the development of new treatment approaches.
Blood
January 2025
KULeuven, Leuven, Belgium.
Thrombomodulin (TM) expressed on endothelial cells regulates coagulation. Specific nonsense variants in the TM gene, THBD, result in high soluble TM levels causing rare bleeding disorder. In contrast, though THBD variants have been associated with venous thromboembolism, this association remains controversial.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
Objectives: Hemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype. This study aims to describe a case of a 17-year-old girl with moderate HA, investigating the mechanisms of her condition and the genetic basis within her family.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
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