Homozygous protein C deficiency: description of a new mutation and successful treatment with low molecular weight heparin.
P Monagle, M Andrew, J Halton, R Marlar, L Jardine, P Vegh, M Johnston, C Webber, MP Massicotte
Thrombosis and Haemostasis | Published : 1998
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 be..View full abstract