Pregnancy in Upshaw-Schulman syndrome
Voigt, A.; Schleussner, E.; Schneppenheim, R.; Budde, U.; Beck, J.-F.; Stefanska-Windyga, E.; Windyga, J.; Kentouche, K. · Zeitschrift für Orthopädie und Unfallchirurgie · 2013 · Heft 02 · S. 144 bis 148
Bibliografische Angaben
Zusammenfassung
SummaryThe Upshaw Schulman syndrome (MIM #274150) is a hereditary deficiency of the von Willebrand factor cleaving protease (ADAMTS13) due to homozygous or compound heterozygous mutations in the ADAMTS13 gene. Patients are prone to bouts of thrombotic thrombocytopenic purpura. However, disease manifestation needs a second trigger event. Pregnancy is a known risk factor for TTP. Patients with USS may manifest during pregnancy and the postpartum period or relapse with a TTP bout. Before plasma therapy mortality for both the mother and the fetus was high, but even nowadays when plasma is delivered, therapy is chall…
