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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
1   From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada
,
Maureen Andrew
1   From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada
,
Jacqueline Halton
2   From the Dept. Pediatrics, Children’s Hospital of Eastern Ontario, Ottawa, Canada
,
Richard Marlar
3   From the Thrombosis Research Laboratory, Denver VA Medical Centre, Denver, Colorado, USA
,
Lawrence Jardine
4   From the Dept. Pediatrics, Janeway Child Health Centre, St. John’s, Newfoundland
,
Patricia Vegh
1   From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada
,
Marilyn Johnston
1   From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada
,
Colin Webber
5   From the Dept. Nuclear Medicine, Chedoke-McMaster Hospitals, Hamilton, Ontario, Canada
,
Patricia M. Massicotte
1   From the Hamilton Civic Hospital Research Centre, Hamilton, Ontario, Canada
› Author Affiliations
Further Information

Publication History

Received 18 August 1997

Accepted after resubmission 05 December 1997

Publication Date:
07 December 2017 (online)

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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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