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

研究成果: Article査読

95 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)742-754
ページ数13
ジャーナルBritish Journal of Haematology
144
5
DOI
出版ステータスPublished - 2009 3月

ASJC Scopus subject areas

  • 血液学

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