FV 880. Disorders of Coagulation in Duchenne Muscular Dystrophy?—Results of a Registry-Based Online Questionnaire

Background: Several types of coagulation disorders are reported in patients with Duchenne muscular dystrophy (DMD). An increased rate of bleeding complications following scoliosis surgery has been described repeatedly. In contrast, several case reports were published giving account of severe pulmonary embolisms, cerebral infarctions, or cardiac thrombus. The incidence of cerebral infarctions in patients with DMD has been estimated to be around 0.75 to 1.8% and is thereby notably higher than in the general population. There are indications to assume that the dysfunctional dystrophin protein in DMD patients might play an important role for thrombocyte function and hence in coagulation of DMD patients.

Aims: Retrospective analysis of bleeding complications and thromboembolic events in patients with DMD.

Question: Are there disease-specific disorders of coagulation in patients with DMD? If yes, do these depend on age and degree of mobility?

Methods: Personalized survey links were forwarded to 682 registered patients with a genetically confirmed diagnosis of DMD via the DMD registry of the Treat-NMD network. Data on the degree of mobility, disposition to hematoma, epistaxis and gum bleeding, occurrence of postsurgical hemorrhage (stroke, deep vein thrombosis, and cardiac thromboembolism), long-term medication, and age were inquired in nine short questions.

Results: A total of 352 DMD patients finished the questionnaires (response rate of 51.6%). Of those n = 165 (46.9%) were still ambulatory and n = 187 (53.1%) were nonambulatory. Age distribution was homogeneous (n = 128 [36.4%] under 10 years; n = 72 [20.5%] 11–15 years; n = 138 [39.2%] above 16 years). A relevant bleeding tendency was reported by 77 (21.9%) participants (disposition to hematoma, epistaxis or gum bleeding in n = 53 [15.1%]; occurrence of postsurgical hemorrhage in n = 19 [5.4%]; prolonged bleeding time after cuts in n = 18 [5.1%]). No significant correlations with age or degree of mobility were found. Thromboembolic events were reported by n = 6 (1.7%) participants (deep vein thrombosis in n = 3 [0.9%]; ischemic insults in n = 2 [0.6%]; ischemic insult and left-ventricular thrombus in n = 1 [0.3%]). Correlations analysis revealed a significant coherence with degree of mobility (all six mentioned participants nonambulatory (Kendall’s tau-b: 0.1 [p = 0.017]), but not with age or long-term medication.

Conclusion: Chronic immobility and cardiac insufficiency are well-known risk factors for thromboembolic vascular obstruction—both typically for advanced stages of DMD. Results of this registry-based survey do not indicate an exceeding DMD-specific risk for thromboembolic events. The results of this survey suggest an increased bleeding tendency, whereas a reporting bias cannot be excluded. Ongoing hemostaseologic studies will investigate whether a disease-specific underlying pathophysiology is present in patients with DMD.

This project was supported by Aktion Benni & Co.