AI Article Synopsis
- Thrombomodulin is crucial for preventing blood clots by binding to thrombin and activating protein C; this study highlights a new case of hereditary thrombomodulin deficiency.
- The patient had a specific genetic mutation that disrupted thrombin binding and led to repeated bleeding and past brain infarcts.
- Treatment with a form of thrombomodulin significantly improved the patient's clinical and laboratory outcomes, showing its effectiveness.
Article Abstract
Thrombomodulin functions as an anticoagulant through thrombin binding and protein C activation. We herein report the first case of hereditary functional thrombomodulin deficiency presenting with recurrent subcutaneous hemorrhage and old cerebral infarction. The patient had a homozygous substitution of glycine by aspartate at amino acid residue 412 (Gly412Asp) in the thrombin-binding domain of the thrombomodulin gene (designated thrombomodulin-Nagasaki). In vitro assays using a recombinant thrombomodulin with the same mutation as the patient showed a total lack of thrombin binding and activation of protein C and thrombin-activatable fibrinolysis inhibitor (TAFI). Marked clinical and laboratory improvement was obtained with recombinant human soluble thrombomodulin therapy.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322956 | PMC |
| http://dx.doi.org/10.1182/bloodadvances.2019001155 | DOI Listing |
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