Pretransplant Genetic Susceptibility: Clinical Relevance in Transplant-Associated Thrombotic Microangiopathy

Thrombosis and Haemostasis
Eleni GavriilakiAchilles Anagnostopoulos

Abstract

Transplant-associated thrombotic microangiopathy (TA-TMA) is a life-threatening complication of allogeneic hematopoietic cell transplantation (HCT). We hypothesized that pretransplant genetic susceptibility is evident in adult TA-TMA and further investigated the association of TMA-associated variants with clinical outcomes. We studied 40 patients with TA-TMA, donors of 18 patients and 40 control non-TMA HCT recipients, without significant differences in transplant characteristics. Genomic DNA from pretransplant peripheral blood was sequenced for TMA-associated genes. Donors presented significantly lower frequency of rare variants and variants in exonic/splicing/untranslated region (UTR) regions, compared with TA-TMA patients. Controls also showed a significantly lower frequency of rare variants in ADAMTS13, CD46, CFH, and CFI. The majority of TA-TMA patients (31/40) presented with pathogenic or likely pathogenic variants. Patients refractory to conventional treatment (62%) and patients that succumbed to transplant-related mortality (65%) were significantly enriched for variants in exonic/splicing/UTR regions. In conclusion, increased incidence of pathogenic, rare and variants in exonic/splicing/UTR regions of TA-TMA patients su...Continue Reading

Citations

Aug 28, 2020·Current Hypertension Reports·Eleni GavriilakiEugenia Gkaliagkousi
Jun 4, 2020·International Journal of Molecular Sciences·Eleni GavriilakiAchilles Anagnostopoulos
Jan 22, 2021·Thrombosis and Haemostasis·Christian WeberGregory Y H Lip
Apr 2, 2021·Journal of Blood Medicine·Christos VarelasEfthymia Vlachaki
Apr 13, 2021·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Eleni GavriilakiAchilles Anagnostopoulos
Apr 17, 2021·Translational Oncology·Patrícia ValérioJosé Maximino Costa
May 7, 2021·Nature Reviews. Nephrology·Fadi Fakhouri, Véronique Frémeaux-Bacchi
Aug 22, 2021·Transplantation Proceedings·Eleni GavriilakiAchilles Anagnostopoulos

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