Glanzmann’s thrombasthenia: Working through cultural barriers

Glanzmann’s thrombasthenia is a rare autosomal recessive bleeding syndrome characterised by a lack of platelet aggregation. This case study considers a young woman affected by this disease, integrating the role her culture plays in her medical management. Fatima (patient renamed for the purposes of this case study) is a 16-year-old girl with Glanzmann’s thrombasthenia and heterozygous factor XIII deficiency, complicated by menorrhagia and a history of packed red blood cell (PRBC) transfusion for symptomatic anemia, with subsequent development of red blood cell (RBC) antibodies. Management has included years of working on hormone control, as well as dealing with the side-effects of such treatment, and starting NovoSeven (Novo Nordisk) recombinant factor VII infusions along with factor XIII replacement (Corifact; CSL Behring) via the use of a peripherally inserted central catheter (PICC), following set-backs related to hormone control. Glanzmann’s thrombasthenia had its first true impact on Fatima at the onset of her menstrual cycle, just prior to the start of her teenage years. Her first menstrual cycle resulted in her admission to the intensive care unit (ICU), where emergency measures were required to save her life. When options to help Fatima began to diminish, Corifact was initiated to correct her factor XIII deficiency, thus allowing the cross-linking of fibrin to form a more stable clot. Fatima is Arab American of Palestinian descent. She has undergone HLA testing and evaluation for bone marrow transplant, however no matches have been identified to date. The family has had another child with intention of saving cord blood, but Fatima’s transplant team has determined that better matches are likely to be found in unrelated donors. Pregnancy for Fatima is very high risk and believed to be life-threatening for her, which plays a very significant role in her life as a young Arab American woman.