Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey

David C. Schorling 1, Cornelia K. Müller 1, Astrid Pechmann 1, Sabine Borell 1, Thorsten Langer 1, Simone Thiele 2, Maggie C. Walter 2, Barbara Zieger 3, Janbernd Kirschner 1,4

1 Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; 2 Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; 3 Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; 4 Department of Neuropediatrics, University Hospital Bonn, Germany

DOI 10.36185/2532-1900-001

Different complications of hemostasis have been reported in patients with Duchenne Muscular Dystrophy (DMD). These comprise an increased rate of bleeding-symptoms during scoliosis surgery but also thromboembolic complications such as pulmonary embolism, cerebral infarction, deep vein thrombosis or cardiac thrombus. 

For this cross-sectional study, personalized online survey-links were forwarded to 682 registered patients with a genetically confirmed diagnosis of DMD via the German-Austrian DMD patient registry ( The questionnaire enquired data regarding the degree of mobility, disposition to hematoma, epistaxis and gum bleeding, occurrence of peri- and postsurgical hemorrhage, stroke, deep vein thrombosis, and cardiac thromboembolism. Further data on regular medication and age were recorded.

Three-hundred-fifty-one DMD-patients completed the questionnaire (response rate of 51.5%). Of those, 164 (46.7%) were ambulatory and 187 (53.3%) were non-ambulatory. Age distribution was homogeneous. Two participants had a history of thromboembolic events (0.6%). Correlations analysis revealed no coherence with the degree of mobility, age or regular medication. A bleeding tendency was reported by 76 participants (21.7%). No significant correlations with age or degree of mobility were found. We found no association with underlying genetic variants. 

Results of this patient registry-based survey do not indicate a distinct DMD-specific risk for thromboembolic events that exceeds the risk by typical comorbidities of chronic immobility and cardiac insufficiency in advanced stages of the disease. The results of this survey suggest a mild bleeding tendency in this DMD cohort, whereas a selection bias cannot be excluded.

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