1/21/2024 0 Comments Andy bernard bleeding nipples![]() 19– 23 Rates of iron deficiency with and without anemia and the impact of IDA on bleeding management in BSS and GT are poorly characterized. ![]() 19 In the pediatric population, IDA has been implicated in reduced stature, reduced growth velocity, altered immune function, and impaired cognitive function. Patients with frequent or severe bleeding events (SBE) are at increased risk of developing iron deficiency anemia (IDA) from chronic blood loss. 12, 13, 16, 17 Individuals with BSS have also demonstrated significant reduction in or cessation of bleeding following rFVIIa administration. 14, 15 Patients with GT achieve effective hemostasis with rFVIIa infusion for acute bleeding events or surgical procedures with or without platelet refractoriness or alloimmunization. Food and Drug Administration and European Medicines Agency for the treatment of surgical and non-surgical bleeding in patients with BSS/GT with platelet refractoriness or alloimmunization. 3 Recombinant FVIIa is approved by the U.S. Unfortunately, platelet transfusion carries known risks of transfusion reactions, including transfusion-related infections and alloimmunization resulting in platelet refractoriness (i.e., development of GPIb, GPIIb/IIIa, or HLA-antibodies), which may occur in up to 50% of patients. 2, 3, 8– 13 Historically, platelet transfusion has been the mainstay of therapy for severe bleeds unresponsive to supportive measures or AF agents. 2, 8– 10 Anti-fibrinolytic (AF) agents, such as aminocaproic acid or tranexamic acid, platelet transfusion, and recombinant activated factor VII (rFVIIa) infusion comprise the primary treatment modalities utilized in both BSS and GT. 7 The current treatment paradigm consists of on-demand hemostatic management of acute bleeding episodes or short-term prophylactic treatment prior to planned surgical or dental interventions. 1– 3 Heavy menstrual bleeding (HMB) is common in adolescent and adult females. The bleeding phenotype of patients with BSS or GT ranges from mild to severe and includes easy bruising, epistaxis, mucosal bleeding, and increased bleeding following trauma or surgery. 3– 5 GT is characterized by mutations in integrin genes ITGA2B (encoding GPIIb) or ITGB3 (encoding GPIIIa), which alter the function or expression of the GPIIb/IIIa complex and result in abnormal platelet aggregation. These mutations lead to quantitative or qualitative defects of the GPIb-IX-V complex resulting in dysregulated platelet adhesion to von Willebrand factor (VWF) and platelet activation. 1– 3 BSS is associated with moderate macrothrombocytopenia and is caused by defects in platelet glycoprotein (GP) genes GP1BA/GP1BB (encoding GPIb) or GP9 (encoding GPIX). 1– 3 The prevalence of BSS and GT are estimated to be approximately 1 in 1 million, with higher disease prevalence reported in areas with increased consanguinity. Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT) are rare autosomal recessive platelet function disorders that primarily result in recurrent mucocutaneous bleeding.
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