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Identification of a Novel PROC Mutation in a Newborn Causing Severe Protein C Deficiency Successfully Treated with Liver Transplantation

1Department of Pediatric Hematology and Oncology, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France, 2Hôpital Bicêtre, Hépatologie et Transplantation Hépatique Pédiatriques, Université Paris Saclay, AP-HP, Le Kremlin-Bicêtre, France, 3Department of Pediatric Surgery, Hôpitaux Universitaires Paris-Sud (AP-HP), Hôpital Bicêtre, Le Kremlin-Bicêtre, France, 4Département d'Anesthésie-Réanimation, Hôpital de Bicêtre, AP-HP, Paris, France, 5Service d'Hématologie Biologique, Hôpital Européen Georges Pompidou, AP-HP, Paris, France, 6Department of Perinatality, APHP, GHUEP, Armand Trousseau Hospital, Medicine Sorbonne University, Paris, France, 7Laboratory of Hematology, Hôpital Trousseau, AP-HP, Paris, France, 8Service d'Hématologie Biologique, Institut Cochin, AP-HP, Paris, France

Abstract Number: PB0112

Meeting: ISTH 2021 Congress

Theme: Coagulation and Natural Anticoagulants » Protein C Pathway

Background: nherited severe Protein C deficiency (SPCD) is a rare disease resulting from mutations in the PROC gene. It is responsible for neonatal purpura fulminans and severe thrombotic complications. Therapeutic options are often limited to life-long PC supplementation and anticoagulation. Liver transplantation (LT) remains an exceptional curative treatment.

Aims: We present the case of a patient with a novel PROC mutation causing SPCD successfully treated with LT after multimodal therapy.

Methods: At H30 of life, she developed skin necrosis and coagulopathy consistent with disseminated intravascular coagulation and SPCD. She was blind and lost the right index. PC supplementation was initiated intravenously on the 4th day of life, in association with anticoagulation (LMWH). Due to large PC supplementation requirements, intolerance to subcutaneous administration, recurrent infectious and thrombotic complications over the next 18 months, a deceased-donor LT was considered.

Results: Genetic sequencing of the PROC gene revealed an unreported homozygous mutation (p.Leu338Hisfs*36) in the proposita. Her asymptomatic non-consanguineous parents were heterozygous for the same mutation. A left lateral segment graft was successfully implanted (250g) during a 12-hours long surgery at the age of 19th months. LT was uneventful under usual procedures, with post-surgery thromboprophylaxis (LMWH: 100UI/Kg/d, aspirin: 3mg/Kg/d) and immunosuppression (Tacrolimus). PC supplementation included an initial bolus (200UI/Kg) followed by continuous infusion (100UI/Kg/h) aiming to maintain PC>75% and D-Dimers<500ng/mL during surgery. Replacement therapy was stopped after 4 more boluses (100UI/Kg/12h) and PC stabilize spontaneously (50-60%). In January 2021, at the age of 4, Tacrolimus (0.4mg bid) being is only long-term treatment; she had no other physical deficit than her blindness.

Conclusions: We describe a novel PROC gene mutation responsible of SPCD. Our case highlights the benefice of early LT in outweighing the complex and costly management of children with SPCD and resulting in a better quality of life for such patients.

To cite this abstract in AMA style:

Le Moigne A, Habes D, Hery G, Staiti G, Fouquet V, Baujard C, Miatello J, Durand P, Alhenc-Gelas M, Ackermann O, Mitanchez D, Leverger G, Favier R, Proulle V, Simonin M. Identification of a Novel PROC Mutation in a Newborn Causing Severe Protein C Deficiency Successfully Treated with Liver Transplantation [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 1). https://abstracts.isth.org/abstract/identification-of-a-novel-proc-mutation-in-a-newborn-causing-severe-protein-c-deficiency-successfully-treated-with-liver-transplantation/. Accessed September 16, 2021.

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