Document Detail

Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.
MedLine Citation:
PMID:  19055667     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-11-26
Journal Detail:
Title:  British journal of haematology     Volume:  144     ISSN:  1365-2141     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-02-03     Completed Date:  2009-05-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  742-54     Citation Subset:  IM    
Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Nara, Japan.
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MeSH Terms
ADAM Proteins / antagonists & inhibitors,  blood,  genetics
Blotting, Western
DNA Mutational Analysis
Fetal Death
Genetic Predisposition to Disease
Infant, Newborn
Pregnancy Complications, Hematologic / genetics*,  mortality
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Purpura, Thrombotic Thrombocytopenic / congenital*,  genetics*,  mortality
Reg. No./Substance:
EC 3.4.24.-/ADAM Proteins; EC 3.4.24.-/ADAMTS13 protein, human

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