INTRODUCTION:
Glanzmann Thrombasthenia (GT) is a rare inherited autosomal recessive bleeding disorder characterized by abnormal platelet aggregation. Platelet dysfunction is secondary to a defect in the platelet membrane receptor IIB/IIIa (Integrin αIIbβ3), preventing platelet activation in response to agonists such as ADP, collagen, or thrombin [1-3]. The frequency of the disease is extremely rare with an incidence of 1 per million [3]. The prevalence of the disease, however, is higher in communities where consanguinity is common, as demonstrated in Jewish and Southern Indian populations [2]
Diagnosis of GT is often made in childhood due to recurring episodes of bleeding including: epistaxis, mucosal & dental bleeding, easy bruising, and gastrointestinal bleeding. More serious bleeding episodes - such as central nervous system bleeding, hemoperitoneum, hemopericardium, and bleeding from trauma - are less common but carry a higher rate of mortality [2,4]. Platelet transfusion remains the standard treatment for nonsurgical bleeding in patients with GT [4]. The use of recombinant factor VII (rFVIIa) has been proven to be effective in managing non-surgical bleeding that is refractory to platelet transfusions [4,5].
Adolescent females with GT often suffer from heavy menstrual bleeding (HMB), clinically defined as blood loss of more than 80 mL per cycle. The prevalence of HMB in females with GT exceeds 9 per 10 cases and can severely affect their quality of life leading to multiple hospital admissions and blood transfusions [15]. The treatment options of GT-related HMB are largely based on case studies and expert opinion to date [14]. In adolescents, HMB is especially challenging to treat secondary to the immaturity of the Hypothalamic-Pituitary-Ovarian (HPO) axis, as demonstrated in this case study. Currently there is no standard treatment this adolescent population. Thus, we provide a novel approach to the management of HMB in female adolescents with GT.