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Responsible for the deficiency of vWF cleaving protease is a mutant gene: the ADMTS13 gene. Where does this mutation come from?

1. It may have been genetically inherited.
In this case, a defect can also be found in the parents. However, this defect can be significantly lower than that of the affected persons.
2. It may be acquired.
In this case, an earlier vascular lesion, such as an infection, could have been the trigger for the ADAMTS13 gene to mutate over time.

Kn, reviewed by Prof. Dr. med. Scharrer


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