Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: A series of 15 pregnancies in 9 genotyped patients

Yoshihiro Fujimura, Masanori Matsumoto, Koichi Kokame, Ayami Isonishi, Kenji Soejima, Nobu Akiyama, Junji Tomiyama, Kazuhiko Natori, Yasunobu Kuranishi, Yutaka Imamura, Nobumasa Inoue, Satoshi Higasa, Masako Seike, Teruhiko Kozuka, Masamichi Hara, Hideo Wada, Mitsuru Murata, Yasuo Ikeda, Toshiyuki Miyata, James N. George

Research output: Contribution to journalArticlepeer-review

102 Citations (Scopus)


Upshaw-Schulman syndrome (USS) is a congenital thrombotic thrombocytopenic purpura (TTP) due to mutations in the gene that encodes for ADAMTS13 (ADAMTS13), but its clinical signs may be mild or absent during childhood. We have identified 37 patients with USS (24 females, 13 males) belonging to 32 families. The nine women from six families who were diagnosed during their first pregnancy are the focus of this report. Six of the nine women had episodes of thrombocytopenia during childhood misdiagnosed as idiopathic thrombocytopenic purpura. Thrombocytopenia occurred during the second-third trimesters in each of their 15 pregnancies, with 16 babies (one twin pregnancy), often followed by TTP. Of 15 pregnancies, eight babies were stillborn or died soon after birth, and the remaining seven were all premature except one, who was born naturally following plasma infusions to the mother that had started at 8 weeks' gestation. All nine USS women had severely deficient ADAMTS13 activity. ADAMTS13 analyses demonstrated that eight women were compound heterozygotes of Y304C/G525D (2 siblings), R125VfsX6/Q1302X (2 siblings), R193W/R349C (2 siblings), I178T/Q929X, and R193W/A606P; one woman was homozygous for R193W. Only the R193W mutation has been previously reported. These observations emphasize the importance of measuring ADAMTS13 activity in the evaluation of thrombocytopenia during childhood and pregnancy.

Original languageEnglish
Pages (from-to)742-754
Number of pages13
JournalBritish Journal of Haematology
Issue number5
Publication statusPublished - 2009 Mar
Externally publishedYes


  • ADAMTS13 mutation
  • Haemolytic anaemia
  • Pregnancy
  • Thrombocytopenia
  • Upshaw-Schulman syndrome

ASJC Scopus subject areas

  • Hematology


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