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[Hypercoagulable state in Duchenne muscular dystrophy]
Insights
Duchenne muscular dystrophy (DMD) patients frequently exhibit a hypercoagulable state, indicated by abnormal coagulation markers. This suggests inherent factors and immobility contribute to thrombosis risk in DMD.
Area of Science:
- Hematology
- Neurology
- Genetics
Context:
- Duchenne muscular dystrophy (DMD) is associated with life-threatening pulmonary and cerebral infarctions.
- The hypercoagulable state in DMD patients requires further investigation into its underlying mechanisms.
Purpose:
- To investigate coagulation and fibrinolysis markers in DMD patients to understand the hypercoagulable state.
- To identify factors contributing to thrombosis risk in Duchenne muscular dystrophy.
Summary:
- 69 DMD patients and 50 controls were assessed for coagulation markers, including thrombotest, thrombin-antithrombin III complex (TAT), and alpha 2-plasmin inhibitor plasmin complex (PIC).
- 96% of DMD patients showed abnormal coagulation results, with low thrombotest (78%), high TAT (61%), and high PIC (40.3%) being frequent.
- Abnormalities were not correlated with age, daily living activities, or cardiac/respiratory function, but were more prevalent in DMD patients than controls.
Impact:
- Findings suggest inherent factors, immobilization, and cardiac dysfunction contribute to the hypercoagulable state in Duchenne muscular dystrophy.
- This research highlights the need for proactive management of thrombosis risk in DMD patients.
Abstract:
Pulmonary and cerebral infarctions have come to be noticed as life-threatening complications of Duchenne muscular dystrophy (DMD). In order to elucidate the underlying mechanism of hypercoagulable state, was studied following markers of coagulation and fiblinolysis in 69 DMD and 50 control patients showing no signs of thrombosis: prothrombin time, activated partial thrombin time, thrombotest, fibrinogen, fibrinogen degradation product, thrombin-antithrombin III complex (TAT), alpha 2-plasmin inhibitor plasmin complex (PIC), D-dimer, protein C activity, protein S, antithrombin III, XII factor, thrombomodulin and plasminogen activity. 66 out of 69 patients (96%) showed abnormal results in more than one of these studies, among which abnormally low thrombotest (78%), high TAT (61%) and high PIC (40.3%), were very frequently observed. The results were not correlated to the age, the activity of daily living and the respiratory of cardiac functions. Significantly smaller number of the control patients suffering from other neuromuscular diseases showed abnormal results, while the ambulatory DMD patients not infrequently showed hypercoagulable state. These results strongly suggest that unknown inherent factor(s) as well as inevitable immobilization and cardiac dysfunction play(s) an important role in the development of hypercoagulable state in this intractable disorder.