Hereditary thrombotic thrombocytopenic purpura
Authors:
R. Hrdličková; Š. Blahutová; P. Kovářová; Z. Čermáková
Authors‘ workplace:
Krevní centrum, FN Ostrava
Published in:
Transfuze Hematol. dnes,29, 2023, No. Supplementum 3, p. 34-37.
Category:
doi:
https://doi.org/10.48095/cctahd20233S34
Overview
Hereditary thrombotic thrombocytopenic purpura is an autosomal recessive disease that represents a very small subset of thrombotic thrombocytopenic purpura with a “smouldering” course and typical onset in the neonatal period and early adulthood. During acute attacks, the severe congenital deficiency of the metalloproteinase ADAMTS13 cleaving vWF multimers leads to multisystem damage due to microthrombi formation in terminal arterioles and capillaries. Between attacks, nonspecific syndromes responsive to replacement therapy also appear. The source of ADAMTS13 replacement therapy is currently human plasma, the use of recombinant ADAMTS13 is pending approval by the appropriate authorities.
Keywords:
thrombotic thrombocytopenic purpura – Upshaw-Shulman syndrome – ADAMTS13 – fresh frozen plasma – pregnancy complications
Sources
1. Wallace DC, Lovric A, Clubb JS, et al. Thrombotic thrombocytopenic purpura in four siblings. Am J Med. 1975; 58: 724–734.
2. Fujimura Y, Matsumoto M, Isonishi A, et al. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J Thromb Haemost. 2011; 9 (Suppl 1): 283–301.
3. van Dorland HA, Taleghani MM, Sakai K, et al. The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrolment until 2017. Haematologica. 2019; 104: 2107–2115.
4. Alwan F, Vendramin C, Liesner R, et al. Characterization and treatment of congenital thrombotic thrombocytopenic purpura. Blood. 2019; 133: 1644–1651.
5. Kremer Hovinga JA, Braschler TR, Buchkremer F, et al. Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: discussion of key findings based on individual cases from Switzerland. Hämostaseologie. 2020; 40 (Suppl 1): S5–S14.
6. von Krogh AS, Quist-Paulsen P, Waage A, et al. High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence. J Thromb Haemost. 2016; 14 (01): 73–82.
7. Kremer Hovinga JA, George JN. Hereditary thrombotic thrombocytopenic purpura. N Engl J Med. 2019; 381: 1653–1662.
8. Scully M, Thomas M, Underwood M, et al. Thrombotic thrombocytopenic purpura and pregnancy: presentation, management, and subsequent pregnancy outcomes. Blood. 2014; 124: 211–219.
9. Furlan M, Robles R, Morselli B, et al. Recovery and half-life of von Willebrand factor-cleaving protease after plasma therapy in patients with thrombotic thrombocytopenic purpura. Thromb Haemost. 1999; 81: 8–13.
10. Tarasco E, Butikofer L, Friedman KD, et al. Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura. Blood. 2021; 137: 3563–3575.
11. Scully M. Congenital TTP: next stop, acuity and therapy. Blood. 2021; 137 (25): 3469–3471.
12. Kovarova P, Hrdlickova R, Blahutova S, et al. ADAMTS13 kinetics after therapeutic plasma exchange and plasma infusion in patients with Upshaw-Schulman syndrome. J Clin Apher. 2019; 34: 13–20.
13. Taylor A, Vendramin C, Oosterholt S, el al. Pharmacokinetics of plasma infusion in congenital thrombotic thrombocytopenic purpura. J Thromb Haemost. 2019; 17: 88–98.
14. Raval JS, Padmanabhan A, Kremer Hovinga JA, et al. Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura. Am J Hematol. 2015; 90 (1): E22.
15. Coppo P, Patwari P, Mellgard B. Recombinant ADAMTS13 prophylaxis in patients with congenital thrombotic trombocytopaenic purpura: Interim analysis from a phase 3b continuation study. ISTH Congress 2023 June 24–28.
Labels
Haematology Internal medicine Clinical oncologyArticle was published in
Transfusion and Haematology Today
2023 Issue Supplementum 3
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