Pregnancy in Upshaw-Schulman syndrome
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Pregnancy in Upshaw-Schulman syndrome. / Kentouche, K; Voigt, A; Schleussner, E; Schneppenheim, R; Budde, U; Beck, J F; Stefańska-Windyga, E; Windyga, J.
in: HAMOSTASEOLOGIE, Jahrgang 33, Nr. 2, 29.05.2013, S. 144-8.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Pregnancy in Upshaw-Schulman syndrome
AU - Kentouche, K
AU - Voigt, A
AU - Schleussner, E
AU - Schneppenheim, R
AU - Budde, U
AU - Beck, J F
AU - Stefańska-Windyga, E
AU - Windyga, J
PY - 2013/5/29
Y1 - 2013/5/29
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Female
KW - Humans
KW - Plasma Exchange
KW - Pregnancy
KW - Pregnancy Complications, Hematologic
KW - Pregnancy Outcome
KW - Purpura, Thrombotic Thrombocytopenic
KW - Treatment Outcome
KW - Young Adult
U2 - 10.5482/HAMO-13-04-0025
DO - 10.5482/HAMO-13-04-0025
M3 - SCORING: Journal article
C2 - 23715104
VL - 33
SP - 144
EP - 148
JO - HAMOSTASEOLOGIE
JF - HAMOSTASEOLOGIE
SN - 0720-9355
IS - 2
ER -