ADAMTS13 defeciency is associated with which disease:
Correct Answer: TTP
Description: The deficiency of ADAMTS13 can be inherited or acquired. In the acquired form, an autoantibody that inhibits the metalloprotease activity of ADAMTS13 is present. Less commonly, patients inherit an inactivating mutation in ADAMTS13. In those with hereditary ADAMTS13 deficiency, the onset is often delayed until adolescence and the symptoms are episodic. Thus, factors other than ADAMTS13 (e.g., some superimposed vascular injury or prothrombotic state) must be involved in triggering full-blown TTP. In contrast, HUS is associated with normal levels of ADAMTS13 and is initiated by several other distinct defects Ref: Robbins 8th edition Chapter 14.
Category:
Pathology
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