Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy.
Upshaw-Schulman syndrome (USS) involves a congenital deficiency of von Willebrand factor-cleaving metalloprotease (ADAMTS13) activity due to gene mutations. Female patients develop overt thrombotic thrombocytopenic purpura (TTP) caused by a decline of ADAMTS13 activity in pregnancy. A 23-year-old nulliparous Japanese woman died due to severe, rapid progression of TTP with intrauterine fetal death at 20 weeks of gestation after its onset, even though she underwent intensive treatment which included plasma exchange. She had a history of idiopathic thrombocytopenic purpura at the age of 3 years. The patient's ADAMTS13 activity was of very low level. It should be borne in mind that there is the possibility of rapidly progressive fulminant USS during pregnancy.
Department of Perinatology and Gynecology, Kagawa University School of Medicine, Miki, Kagawa, Japan.
Hirokazu
H
Tanaka
Chiaki
C
Tenkumo
Nobuhiro
N
Mori
Koichi
K
Kokame
Yoshihiro
Y
Fujimura
Toshiyuki
T
Hata
D051722:ADAM Proteins / Q000097:blood / Q000235:genetics; D000071120:ADAMTS13 Protein; D000328:Adult; D003131:Combined Modality Therapy; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D006801:Humans; D009154:Mutation; D010951:Plasma Exchange; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D011262:Pregnancy Trimester, Second; D011697:Purpura, Thrombotic Thrombocytopenic / Q000097:blood / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D012720:Severity of Illness Index; D055815:Young Adult
D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
ADAMTS13; Upshaw-Schulman syndrome; intrauterine fetal death; maternal death; pregnancy; thrombotic thrombocytopenic purpura