A Case of Parturient with Hereditary Thrombotic Thrombocytopenic Purpura: Case Report of a Novel Variant

A Novel Variant on the Thrombospondin Type-1 Repeat 2 Domain of ADAMTS13 in a Parturient with Suspected Hereditary Thrombotic Thrombocytopenic Purpura and Unusually High ADAMTS13 Activity

“…At the 8th month of pregnancy, she had reddish urine and ecchymosis all over her body and developed hypertension and proteinuria during the late stage of pregnancy. 18 The patient we present in this report had constant fatigue and gingival bleeding before pregnancy, experienced blurred vision during this pregnancy, and had stillbirths during two previous pregnancies, all of which may be due to the deficiency of ADAMTS13 enzyme. Although the ADAMTS13 activity was recorded at a moderate level, which is higher than the current threshold for diagnosis of TTP according to ISTH guidelines, we still tend to regard this case as a cTTP patient combining the clinical manifestations, results of biochemical tests and genetic screening findings.…”

“…At the 8th month of pregnancy, she had reddish urine and ecchymosis all over her body and developed hypertension and proteinuria during the late stage of pregnancy. 18…”

Editorial Compilation—XV

“…17 Next, Chen and colleagues describe a case of parturient with hereditary thrombotic thrombocytopenic purpura and a novel variant in the gene for ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13). 18 We finalize the standard issue format where we began, with discussion of COVID-19-with Fan at al describing a case of post-COVID-19 large vessel vasculopathy in a previously healthy young male. 19 And yet, the content described above does not end this issue of STH.…”