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

Abstract

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.

Skin Necrosis and Purpura Fulminans in Children With and Without Thrombophilia—A Tertiary Center's Experience

“…This concentrate is currently available in Europe and Canada, and subcutaneous administration has recently been reported as well [20,21].…”

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

“…However, none of them was associated with the same genetic defects . Only one case was reviewed in the literature with PF beyond one year, and this was positive for c.8514 G>A (Ala267Thr) [Accession number: CM920595] mutation . Whether these mutations played a role in the etiology of delayed‐onset purpura fulminans is yet to be elucidated.…”

Severe Congenital Protein C Deficiency: Practical Aspects of Management

“…A literature search revealed a broad range in SC PC infusion duration (1–48 hr), but commonly >6 hr . Continuous SC PC infusion using an insulin pump has also been described . The dose of PC used also varies, and according to a recently published series, patients were either given a larger dose (200–350 IU/kg) Q48–72hr or a smaller dose (60–230 IU/kg) daily.…”

“…[1,4] Continuous SC PC infusion using an insulin pump has also been described. [6] The dose of PC used also varies, and according to a recently published series [4], patients were either given a larger dose (200-350 IU/kg) Q48-72hr or a smaller dose (60-230 IU/kg) daily. In the same series, one patient received a lower dose (30-50 IU/kg) twice weekly.…”