Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn

Serra, Núria Sala; López, Manuel Negrín; Seijas, Jordi Corral; Gómez‐Casares, María Teresa; Tercero, Miguel Fernández-Burriel; Honrubia, A.

doi:10.1055/s-0037-1614309

Thromb Haemost

2005

DOI: 10.1055/s-0037-1614309

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Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn

Núria Sala Serra¹,

Manuel Negrín López²,

Jordi Corral Seijas³

et al.

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Cited by 6 publications

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Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency

Piccini

Capirchio²,

Guasti³

et al. 2014

Blood Coagulation &Amp; Fibrinolysis

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We describe the case of a newborn presenting with multicystic encephalomalacy, hydrocephalus and bilateral hemovitreous. An underlying coagulation disorder was suspected and laboratory tests revealed severe protein C deficiency. At 25 days of life, after the appearance of purpura fulminans, replacement therapy with intravenous protein C concentrate (Ceprotin; Baxter, Vienna, Austria) was started.Due to difficulties in getting peripheral venous access and to repeated loss of the venous access, continuous subcutaneous infusion of protein C was started with an insulin pump (VEO 754; Medtronic, Minneapolis, Minnesota, USA), normally adopted in patients with type 1 diabetes mellitus. Protein C values increased into the normal range and the resolution of the purpuric skin lesion was achieved. Chronic prophylaxis with low-molecular-weight heparin failed and, due to cutaneous and cerebral recrudescence, replacement therapy with the pump was started again. The insulin pump allowed us to reduce the number of injections per day and to deal with the difficulties in getting peripheral venous access, permitting medical and paramedical staff an easier management of the therapy. The dosing schedule could be easily adapted with the insulin pump and the continuous subcutaneous administration of small amounts of protein C concentrate prevented fluctuation in trough levels of protein C. This is the first reported case of a novel, successful use of an insulin pump in an extremely rare disease, to administer a drug different from insulin, which needs to be further analyzed, underlining the importance of a multidisciplinary team approach in order to provide effective and efficient care in high-complexity diseases.

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Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency

Piccini

Capirchio²,

Guasti³

et al. 2014

Blood Coagulation &Amp; Fibrinolysis

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Subcutaneous protein C concentrate in the management of severe protein C deficiency – experience from 12 centres

et al. 2014

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SummarySince the first description of subcutaneous protein C concentrate as treatment for severe protein C deficiency in 1996, further cases have been reported but there is no uniform approach to this form of treatment. In order to assess the safety and effectiveness of subcutaneous protein C concentrate and suggest recommendations for future use, patients who had received subcutaneous protein C concentrate were identified from the literature, by contacting the manufacturers and by personal communication. Treatment details were available from 14 cases. Apart from one case where the infusion interval was inadvertently increased, no thrombotic events occurred even when doses were subsequently reduced. Initially, a trough protein C level of >0Á25 iu/ml should be aimed for. Subsequently, a smaller dose of subcutaneous protein C concentrate, especially if taken with an oral anticoagulant, may be protective maintenance treatment. The treatment was well tolerated with few side effects. Subcutaneous protein C concentrate on its own or combined with an oral anticoagulant appears to be safe and effective as maintenance treatment of severe protein C deficiency. A major advantage is the avoidance of central venous access devices. The incidence of neurodevelopmental handicap was high with blindness affecting the majority of patients.

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Purpura fulminans: recognition, diagnosis and management

Chalmers¹,

Cooper

Forman

et al. 2011

Archives of Disease in Childhood

185

175

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Purpura fulminans (PF) is a haematological emergency in which there is skin necrosis and disseminated intravascular coagulation. This may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. PF may complicate severe sepsis or may occur as an autoimmune response to otherwise benign childhood infections. PF may also be the presenting symptom of severe heritable deficiency of the natural anticoagulants protein C or protein S. Early recognition and treatment of PF is essential to reduce mortality and to prevent major long-term health sequelae. However, management strategies require accurate identification of the underlying cause. This review focuses on the clinical features, differential diagnosis and laboratory features of the range of PF disorders and includes expert consensus opinion about immediate and on-going management.

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Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn

Cited by 6 publications

References 9 publications

Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency

Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency

Subcutaneous protein C concentrate in the management of severe protein C deficiency – experience from 12 centres

Purpura fulminans: recognition, diagnosis and management

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