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dc.contributor.authorvan Dorland, Hendrika
dc.contributor.authorTaleghani, Magnus Mansouri
dc.contributor.authorSakai, Kazuya
dc.contributor.authorFriedman, Ken
dc.contributor.authorGeorge, James N.
dc.contributor.authorHrachovinova, Ingrid
dc.contributor.authorKnobl, Paul N.
dc.contributor.authorvon Krogh, Anne Sophie
dc.contributor.authorSchneppenheim, Reinhard
dc.contributor.authorAebi-Huber, Isabella
dc.contributor.authorBütikofer, Lukas
dc.contributor.authorLargadier, Carlo
dc.contributor.authorCermakova, Zusana
dc.contributor.authorKokame, Koichi
dc.contributor.authorMiyata, Toshiyuki
dc.contributor.authorYagi, Hideo
dc.contributor.authorVesely, Sara K.
dc.contributor.authorTerrell, Deirdra
dc.contributor.authorMatsumoto, Masanori
dc.contributor.authorLämmle, Bernhard
dc.contributor.authorFujimura, Yoshihiro
dc.contributor.authorKremer Hovinga, Johanna A
dc.identifier.citationHaematologica. 2019, 104 (10), 2107-2115.nb_NO
dc.description.abstractCongenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely understood genotype-phenotype correlation. In 2006, the Hereditary TTP Registry started recruitment for a study which aimed to improve the understanding of this ultra-rare disease. The objective of this study is to present characteristics of the cohort until the end of 2017 and to explore the relationship between overt disease onset and ADAMTS13 activity with emphasis on the recurring ADAMTS13 c.4143_4144dupA mutation. Diagnosis of congenital thrombotic thrombocytopenic purpura was confirmed by severely deficient ADAMTS13 activity (≤10% of normal) in the absence of a functional inhibitor and the presence of ADAMTS13 mutations on both alleles. By the end of 2017, 123 confirmed patients had been enrolled from Europe (n=55), Asia (n=52, 90% from Japan), the Americas (n=14), and Africa (n=2). First recognized disease manifestation occurred from around birth up to the age of 70 years. Of the 98 different ADAMTS13 mutations detected, c.4143_4144dupA (exon 29; p.Glu1382Argfs*6) was the most frequent mutation, present on 60 of 246 alleles. We found a larger proportion of compound heterozygous than homozygous carriers of ADAMTS13 c.4143_4144dupA with overt disease onset at < 3 months of age (50% vs. 37%), despite the fact that ADAMTS13 activity was <1% in 18 of 20 homozygous, but in only 8 of 14 compound heterozygous carriers. An evaluation of overt disease onset in all patients with an available sensitive ADAMTS13 activity assay (n=97) shows that residual ADAMTS13 activity is not the only determinant of age at first disease manifestation. Registered at identifier NCT01257269.nb_NO
dc.publisherFerrata Storti Foundationnb_NO
dc.rightsNavngivelse-Ikkekommersiell 4.0 Internasjonal*
dc.titleThe International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017nb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.localcodeMaterial published in Haematologica is covered by copyright. All rights are reserved to the Ferrata Storti Foundation. Use of published material is allowed under the following terms and conditions:
cristin.unitnameInstitutt for klinisk og molekylær medisin

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Navngivelse-Ikkekommersiell 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse-Ikkekommersiell 4.0 Internasjonal