Genotype-Phenotype Correlation in Congenital TTP: New Insights from a Multicentre Study with 121 Patients

Conclusion: At present, the Hereditary TTP Registry is the largest cohort on cTTP, to our knowledge. The large number of different mutations as well as confounding factors, including multi-ethnic and geographical factors in our internationally compiled patient cohort make unravelling the genotype-phenotype correlation in cTTP challenging. Yet, for c.4143_4144dupA, we can conclude that homozygous patients with ADAMTS13 c.4143_4144dupA are clinically less severely affected than compound heterozygotes due to the later onset of the disease in homozygotes, whereas the clinical characteristics are similar between compound heterozygotes and homozygotes. Why homozygous carriers of c.4143_4144dupA, despite having no ADAMTS13 activity in plasma, may have a rather late onset of acute TTP remains to be further elucidated.DisclosuresFriedman: Shire: Membership on an entity's Board of Directors or advisory committees; CSL Behring: Membership on an entity's Board of Directors or advisory committees. Knöbl: Ablynx: Consultancy, Other: Member of Advisory Board. Schneppenheim: CSL Behring: Consultancy; SHIRE: Consultancy. Kremer Hovinga Strebel: Ablynx: Other: Advisory Board; SHIRE: Other: Advisory Board, Research Funding.

Source: Blood - November 21, 2018 Category: Hematology Authors: Van Dorland, A. A., Mansouri Taleghani, M., Friedman, K. D., George, J., Hrachovinova, I., Knobl, P., Lammle, B., Matsumoto, M., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Lukas, B., Cermakova, Z., Quist-Paulsen, P., Terrell, D., Vesely, S. K., Tags: 311. Disorders of Platelet Number or Function: Advances in the Treatment of TTP and HIT Source Type: research