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.