Pregnancy in Upshaw-Schulman syndrome

 

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Summary

The 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 challenging, still bearing a high risk for miscarriage or long term sequelae for the mother.

In this report on pregnancies in three mothers with USS, plasma therapy was increased in frequency and amount given with regard to platelet count or ADAMTS13 activity, thus leading to a successful outcome.

Zusammenfassung

Beim Upshaw Schulman Syndrom (#274150) besteht ein angeborener Mangel der von-Willebrand-Faktor-spaltenden Protease (ADAMTS13) durch homozygote oder kombiniert heterozygote Mutationen im ADAMTS13-Gen. Dadurch kommt es bei den Patienten zu Schüben mit dem Bild der thrombotisch-thrombozytopenischen Purpura . Allerdings braucht es für diese Manifestation einen Auslöser. Schwangerschaft stellt einen bekannten Risikofaktor für die TTP dar. Bei Patientinnen mit USS kommt es entweder zur Erstmanifestation während der Schwangerschaft oder im Wochenbett oder zum Rückfall der TTP. Vor der Einführung der Plasmatherapie lag die Mortalität für Mutter und Kind hoch, doch auch heute mit Plasmasubstitution, stellt die Behandlung eine Herausforderung dar, mit einem hohen Risiko für vorzeitigen Abort oder Langzeitschäden bei der Mutter.

In diesem Bericht über Schwangerschaften dreier Mütter mit USS, führte die an die Blutplättchenzahl oder ADAMTS13-Aktivität angepasste Plasmagabe zu erfolgreichem Schwangerschaftsverlauf.

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