The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017

Haematologica
Hendrika A van DorlandHereditary TTP Registry

Abstract

Congenital 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 heterozy...Continue Reading

Citations

Oct 24, 2019·The New England Journal of Medicine·Johanna A Kremer Hovinga, James N George
Sep 12, 2020·Journal of Thrombosis and Haemostasis : JTH·X Long ZhengFlora Peyvandi
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Sep 12, 2020·Journal of Thrombosis and Haemostasis : JTH·X Long ZhengFlora Peyvandi
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Jan 3, 2021·International Journal of Hematology·Sheng-Chieh ChouMing-Ching Shen
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Feb 16, 2021·Journal of Neurology·José M Ferro, Joana Infante
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Sep 4, 2021·HemaSphere·Carlo BalduiniChristel Van Geet
Oct 9, 2021·CEN Case Reports·Ryunosuke NodaYoshitaka Ishibashi

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BETA
ELISA

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NCT01257269

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