Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH.
children
disseminated intravascular coagulation
neonates
purpura fulminans
thrombosis
Journal
Journal of thrombosis and haemostasis : JTH
ISSN: 1538-7836
Titre abrégé: J Thromb Haemost
Pays: England
ID NLM: 101170508
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
revised:
11
04
2022
received:
20
12
2021
accepted:
13
04
2022
pubmed:
16
5
2022
medline:
29
6
2022
entrez:
15
5
2022
Statut:
ppublish
Résumé
Severe congenital protein C deficiency (SCPCD) is rare and there is currently substantial variation in the management of this condition. A joint project by three Scientific and Standardization Committees of the ISTH: Plasma Coagulation Inhibitors, Pediatric/Neonatal Thrombosis and Hemostasis, and Women's Health Issues in Thrombosis and Hemostasis, was developed to review the current evidence and help guide on diagnosis and management of SCPCD. We provide a summary of the clinical presentations, differential diagnoses, appropriate investigations to confirm the diagnosis, approaches for management of the acute situation, and options for long-term management including subsequent pregnancies. We finally provide a set of recommendations to help in this regard.
Identifiants
pubmed: 35570324
doi: 10.1111/jth.15732
pii: S1538-7836(22)01923-7
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1735-1743Commentaires et corrections
Type : ErratumIn
Type : ErratumIn
Informations de copyright
© 2022 The Authors. Journal of Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis.
Références
Goldenberg NA, Manco-Johnson MJ. Protein C deficiency. Haemophilia. 2008;14(6):1214-1221.
Marlar RA, Gausman JN. Laboratory testing issues for protein C, protein S, and antithrombin. Int J Lab Hematol. 2014;36(3):289-295.
Monagle P, Cuello CA, Augustine C, et al. American society of hematology 2018 guidelines for management of venous thromboembolism: treatment of pediatric venous thromboembolism. Blood Adv. 2018;2(22):3292-3316.
Manco-Johnson MJ, Bomgaars L, Palascak J, et al. Efficacy and safety of protein C concentrate to treat purpura fulminans and thromboembolic events in severe congenital protein C deficiency. Thromb Haemost. 2016;116(1):58-68.
Dreyfus M, Ladouzi A, Chambost H, et al. Treatment of inherited protein C deficiency by replacement therapy with the French purified plasma-derived protein C concentrate (PROTEXEL). Vox Sang. 2007;93(3):233-240. doi:10.1111/j.1423-0410.2007.00953.x
Cooper PC, Pavlova A, Moore GW, Hickey KP, Marlar RA. Recommendations for clinical laboratory testing for protein C deficiency, for the subcommittee on plasma coagulation inhibitors of the ISTH. J Thromb Haemost. 2020;18(2):271-277.
Tuddenham EG, Takase T, Thomas AE, et al. Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months. Thromb Res. 1989;53(5):475-484.
Kirkinen P, Salonvaara M, Nikolajev K, Vanninen R, Heinonen K. Antepartum findings in fetal protein C deficiency. Prenat Diagn. 2000;20(9):746-749.
Veron D, Varela M, Rosa C, et al. Congenital protein C deficiency: family report from Argentina. Front Med Case Rep. 2020;1(5):1-5. doi:10.47746/FMCR.2020.1503
Bertina RM. Protein C deficiency and venous thrombosis - The search for the second genetic defect. Thromb Haemost. 2000;83(3):360-361.
Boey JP, Jolley A, Nicholls C, et al. Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long-term treatment with subcutaneous protein C concentrate. Br J Haematol. 2016;172(5):811-813.
Siriez R, Dogné JM, Gosselin R, Laloy J, Mullier F, Douxfils J. Comprehensive review of the impact of direct oral anticoagulants on thrombophilia diagnostic tests: practical recommendations for the laboratory. Int J Lab Hematol. 2021;43(1):7-20.
Andrew M, Vegh P, Johnston M, Bowker J, Ofosu F, Mitchell L. Maturation of the hemostatic system during childhood. Blood. 1992;80(8):1998-2005.
Manco-Johnson MJ, Abshire TC, Jacobson LJ, Marlar RA. Severe neonatal protein C deficiency: prevalence and thrombotic risk. J Pediatr. 1991;119(5):793-798.
Neary E, McCallion N, Kevane B, et al. Coagulation indices in very preterm infants from cord blood and postnatal samples. J Thromb Haemost. 2015;13(11):2021-2030.
Reitsma PH. Protein C deficiency: summary of the 1995 database update. Nucleic Acids Res. 1996;24(1):157-159.
Alhenc-Gelas M, Plu-Bureau G, Mauge L, Gandrille S, Présot I. Genotype-phenotype relationships in a large French cohort of subjects with inherited protein C deficiency. Thromb Haemost. 2020;120(9):1270-1281.
Downes K, Megy K, Duarte D, et al. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood. 2019;134(23):2082-2091.
Seidel H, Haracska B, Naumann J, Westhofen P, Hass MS, Kruppenbacher JP. Laboratory limitations of excluding hereditary protein C deficiency by chromogenic assay: discrepancies of phenotype and genotype. Clin Appl Thromb Hemost. 2020;26:1076029620912028.
Dreyfus M, Masterson M, David M, et al. Replacement therapy with a monoclonal antibody purified protein C concentrate in newborns with severe congenital protein C deficiency. Semin Thromb Hemost. 1995;21(4):371-381.
Ohga S, Kang D, Kinjo T, et al. Paediatric presentation and outcome of congenital protein C deficiency in Japan. Haemophilia. 2013;19(3):378-384.
Minford A, Behnisch W, Brons P, et al. Subcutaneous protein C concentrate in the management of severe protein C deficiency - experience from 12 centres. Br J Haematol. 2014;164(3):414-421.
Monagle P, Newall F. Management of thrombosis in children and neonates: practical use of anticoagulants in children. Hematology Am Soc Hematol Educ Program. 2018;2018(1):399-404.
Minford AMB, Parapia LA, Stainforth C, Lee D. Treatment of homozygous protein C deficiency with subcutaneous protein C concentrate. Br J Haematol. 1996;93(1):215-216.
Mathias M, Khair K, Burgess C, Liesner R. Subcutaneous administration of protein C concentrate. Pediatr Hematol Oncol. 2004;21(6):549-554.
De Kort EHM, Vrancken SLAG, van Heijst AFJ, Binkhorst M, Cuppen MPJM, Brons PPT. Long-term subcutaneous protein C replacement in neonatal severe protein C deficiency. Pediatrics. 2011;127(5):e1338-e1342.
Sanz-Rodriguez C, Gil-Fernández JJ, Zapater P, et al. Long-term management of homozygous protein C deficiency: replacement therapy with subcutaneous purified protein C concentrate. Thromb Haemost. 1999;81(6):887-890.
Chalmers E, Cooper P, Forman K, et al. Purpura fulminans: recognition, diagnosis and management. Arch Dis Child. 2011;96(11):1066-1071.
Watanabe K, Arakawa Y, Yanagi M, Isobe K, Mori M, Koh K. Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban: a case report. Pediatr Blood Cancer. 2019;66(6):e27686.
Menon N, Sarode R, Zia A. Rivaroxaban dose adjustment using thrombin generation in severe congenital protein C deficiency and warfarin-induced skin necrosis. Blood Adv. 2018;2(2):142-145.
Lee MJ, Kim KM, Kim JS, Kim YJ, Lee YJ. Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation. Pediatr Transplant. 2009;13(2):251-254. doi:10.1111/j.1399-3046.2008.00972.x
Boucher AA, Luchtman-Jones L, Nathan JD, Palumbo JS. Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor. Am J Hematol. 2018;93(3):462-466.
Monagle K, Ignjatovic V, Hardikar W, Newall F, Monagle P. Long-term follow-up of homozygote protein C deficiency after multimodal therapy. J Pediatr Hematol Oncol. 2014;36(7):e452-e455.
Barnes C, Newall F, Higgins S, Carden S, Monagle P. Perinatal management of patients at high risk of homozygous protein C deficiency. Thromb Haemost. 2002;88(2):370-371.
Pöschl J, Behnisch W, Beedgen B, Kuss N. Case report: successful long-term management of a low-birth weight preterm infant with compound heterozygous protein C deficiency with subcutaneous protein C concentrate up to adolescence. Front Pediatr. 2021;9:591052.
Reverdiau-Moalic P, Delahousse B, Body G, Bardos P, Leroy J, Gruel Y. Evolution of blood coagulation activators and inhibitors in the healthy human fetus. Blood. 1996;88(3):900-906.
Knoebl PN. Severe congenital protein C deficiency: the use of protein C concentrates (human) as replacement therapy for life-threatening blood-clotting complications. Biologics. 2008;2(2):285-296.