title: Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura.
abstract: We report on our patient (case 2) who experienced a first acute episode of thrombotic thrombocytopenic purpura (TTP) at the age of 19 years during her first pregnancy in 1976 which ended in a spontaneous abortion in the 30th gestational week. Treatment with red blood cell concentrates was implemented and splenectomy was performed. After having suffered from several TTP episodes in 1977, possibly mitigated by acetylsalicylic acid therapy, an interruption and sterilization were performed in 1980 in her second pregnancy thereby avoiding another disease flare-up. Her elder sister (case 1) had been diagnosed with TTP in 1974, also during her first pregnancy. She died in 1977 during her second pregnancy from a second acute TTP episode.
  
  
  METHODS
  In 2013 a severe ADAMTS13 deficiency of <10% without detectable ADAMTS13 inhibitor was repeatedly found. Investigation of the ADAMTS13 gene showed that the severe ADAMTS13 deficiency was caused by compound heterozygous ADAMTS13 mutations: a premature stop codon in exon 2 (p.Q44X), and a missense mutation in exon 24 (p.R1060W) associated with low but measurable ADAMTS13 activity.
  
  
  CONCLUSIONS
  Genetic analysis of the ADAMTS13 gene is important in TTP patients of all ages if an ADAMTS13 inhibitor has been excluded.
authors.affiliation: Tanja Falter, Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, Langenbeckstraße 1, 55131 Mainz, Germany, Tel. +49/(0)61 31/17 32 63, E-mail: tanja.falter@unimedizin-mainz.de.
authors.forename: T
authors.initials: T
authors.lastname: Falter
authors.forename: J A
authors.initials: JA
authors.lastname: Kremer Hovinga
authors.forename: K
authors.initials: K
authors.lastname: Lackner
authors.forename: H-G
authors.initials: HG
authors.lastname: Füllemann
authors.forename: B
authors.initials: B
authors.lastname: Lämmle
authors.forename: I
authors.initials: I
authors.lastname: Scharrer
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071120:ADAMTS13 Protein; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis* / Q000235:genetics*; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13 activity; ADAMTS13 mutation; Hereditary TTP; pregnancy