Homozygous Protein C Deficiency: Description of a New Mutation and Successful Treatment with Low Molecular Weight Heparin

Paul Monagle; Maureen Andrew; Jacqueline Halton; Richard Marlar; Lawrence Jardine; Patricia Vegh; Marilyn Johnston; Colin Webber; Patricia M. Massicotte

doi:10.1055/s-0037-1615060

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1998; 79(04): 756-761
DOI: 10.1055/s-0037-1615060

Rapid Communication

Schattauer GmbH

Homozygous Protein C Deficiency: Description of a New Mutation and Successful Treatment with Low Molecular Weight Heparin

Paul Monagle

¹From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada

,

Maureen Andrew

¹From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada

,

Jacqueline Halton

²From the Dept. Pediatrics, Children’s Hospital of Eastern Ontario, Ottawa, Canada

,

Richard Marlar

³From the Thrombosis Research Laboratory, Denver VA Medical Centre, Denver, Colorado, USA

,

Lawrence Jardine

⁴From the Dept. Pediatrics, Janeway Child Health Centre, St. John’s, Newfoundland

,

Patricia Vegh

¹From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada

,

Marilyn Johnston

¹From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada

,

Colin Webber

⁵From the Dept. Nuclear Medicine, Chedoke-McMaster Hospitals, Hamilton, Ontario, Canada

,

Patricia M. Massicotte

¹From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada

› Institutsangaben

Abstract

Summary

We present a kindred with a new mutation of the protein C gene, in which the proband had an unusual clinical presentation. The relationship between warfarin induced skin necrosis and level of anticoagulation was investigated. The pharmacokinetics of protein C concentrate was assessed to determine frequency of replacement therapy. The clinical and biochemical efficacy of therapy with low molecular weight heparin (LMWH) was assessed. The effect of long-term LMWH on bone density in the growing child was monitored using whole body densitometry.

Warfarin therapy required an INR of greater than 3.5 to avoid skin necrosis. If protein C replacement was to be used, doses of 100 U/kg/day would have been required to maintain protein C levels consistently at or above 0.20 U/ml. While receiving prophylactic therapy with LMWH for almost 3 years, there were no episodes of recurrent thrombosis, no skin necrosis and no bleeding. Biochemical markers of in vivo thrombin generation were suppressed and within the normal range. Bone density continued to increase at the normal rate throughout the treatment period.

LMWH is an effective form of long-term therapy for homozygous protein C deficient patients with measurable protein C levels.

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Referenzen

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