Wolfgang Miesbach on Insights into cTTP, Presented at BIC 2025 by Omid Seidizadeh, Paul Brinkkötter, and Inés Gómez Seguí
Wolfgang Miesbach, Professor of Medicine at Frankfurt University Hospital, shared on LinkedIn:
”Big Topic at BIC Meeting: cTTP!
The 13th BIC International Conference in Padua brought together experts to discuss congenital thrombotic thrombocytopenic purpura (cTTP): Omid Seidizadeh, Paul Brinkkötter, and Inés Gómez Seguí.
- Prevalence revelation: New genomic data suggests cTTP may be 20-40x more common than previously believed, with estimates ranging from 23-40 cases per million population – far higher than the traditional 0.5-2 per million
- Population variability: Striking differences across ethnicities, with East Asians showing the highest prevalence (42/10⁶) and significant variations among other populations
- Genetic diversity: Analysis of over 1.6 million alleles identified 6,321 ADAMTS13 variants, with 618 novel pathogenic variants discovered
- 2025 ISTH Guidelines Update: Recombinant ADAMTS13 (rADAMTS13) now receives a strong recommendation as first-line prophylactic therapy for cTTP patients in remission, marking a shift from the previous “watch-and-wait” approachk
- Clinical superiority: Phase 3 trials show rADAMTS13 achieving 100% ADAMTS13 activity vs. only 19% with standard plasma therapy, with zero acute TTP events compared to standard care
This data underscore the critical need for enhanced diagnostic awareness, improved genetic screening, and better neonatal surveillance protocols.
The availability of rADAMTS13 represents a paradigm shift from reactive to proactive management, potentially preventing life-threatening complications while dramatically improving quality of life.
– Many cTTP cases likely remain undiagnosed or result in unrecognized neonatal deaths
– The broad clinical presentation includes not just bleeding, but significant comorbidities affecting multiple organ systems
– 43% of patients have neonatal hyperbilirubinemia, highlighting early manifestations
– Pregnant patients with cTTP now have clearer treatment recommendations, with plasma infusion preferred over FVIII products when rADAMTS13 is unavailable”
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