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September 10, 2025Virchows ArchivOpen Access

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene

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Case reports of distinct vascular bodies in cTTP highlight critical genetic implications and pathology.

Distinctive multivisceral glomeruloid vascular proliferation was observed in cases of cTTP, indicating a potential new pathology.
Whole genome sequencing identified two novel pathogenic variants in the ADAMTS13 gene, expanding the disorder's genetic understanding.
Both cases resulted in perinatal death, underscoring the urgency of managing thrombotic thrombocytopenic purpura.
Autopsies revealed underlying thrombotic microangiopathy, suggesting significant ischemic and hemorrhagic changes.

Maragliano et al. (2025) studied this question.

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