PT04 - Revisiting blood-induced joint damage in Glanzmann’s Thrombasthenia: Evidence from a Retrospective Case Review of three patients.

PT04

Revisiting blood-induced joint damage in Glanzmann’s Thrombasthenia: Evidence from a Retrospective Case Review of three patients.

T. Flannery^1,*, A. Kanny¹, J. Tarrant¹, S. Paruthikunnan², E. Horn¹

¹Leeds Haemophilia Comprehensive Care Centre, ²Musculoskeletal Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom

 

Introduction: Glanzmann’s thrombasthenia (GT) is a severe hereditary platelet disorder, characterised by quantitative or qualitative defects in GPIIb/IIIa (ITG αIIbβ3), the platelet fibrinogen receptor. Platelet aggregation is therefore absent in response to all physiological agonists resulting in lifelong mucocutaneous bleeding. There is currently no licensed prophylactic treatment available and curative allogeneic stem cell transplantation (HSCT) is reserved for life threatening non-responsive bleeding. Unlike severe haemophilia A (SHA) or B (SHB), it is assumed that joint bleeding is a rare or inconsequential feature in this population. This case review casts doubt on that assumption.

Methods: A retrospective single centre case review of three patients with GT was conducted using electronic patient notes from 2007 to 2025. Two male and one female patient were included, aged 55 – 63yrs., one of whom has anti-GpIIb/IIIa antibodies. Clinical and radiological observations of joint health, orthopaedic and physiotherapy interventions were noted. Patients were asked if they recalled childhood symptoms of painful, stiff/swollen joints. 

Results: All three had confirmed blood induced joint damage on MRI and/or CT scan in synovial joints. Two recall having occasional sore and swollen joints as children. Affected joints, include one elbow, one knee and five ankles. In keeping with the prevalence of joint damage in SHA and SHB, with ankles being the most affected joint. Two patients have undergone orthopaedic surgery for three joints: one total elbow and one total knee replacement and one ankle fusion. Surgery  is anticipated for the three remaining ankle joints to reduce pain and improve function. 

Discussion/Conclusion: GT is a severe bleeding disorder affecting males and females for which there is currently no effective prophylaxis. Previous consensus was that joint damage as occurs in SHA or SHB was rarely associated with GT. This may be the case for some variants of GT, however routine screening of elbows, knees and ankles should be considered in keeping with SHA/B where hemarthroses cause substantial morbidity. Surgery in GT carries significant risks, requiring intensive haemostatic support with platelet transfusion or recombinant factor VIIa. Surgery is particularly challenging in patients with anti GpIIb/IIIa antibodies and balance of risks requires careful consideration.

Disclosure of Interest: None declared