We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen. The homozygotes presented with recurrent deep-vein thromboses and pulmonary emboli, but have reached the ages of 26 and 37 years. Hence, protein C levels of 5% appear sufficient to avoid life-threatening clinical symptoms in the neonatal period.
Homozygous protein C deficiency with moderately severe clinical symptoms / C. Sharon, M.C. Tirindelli, P.M. Mannucci, A. Tripodi, G. Mariani. - In: THROMBOSIS RESEARCH. - ISSN 0049-3848. - 41:4(1986), pp. 483-488.
Homozygous protein C deficiency with moderately severe clinical symptoms
A. Tripodi;
1986
Abstract
We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen. The homozygotes presented with recurrent deep-vein thromboses and pulmonary emboli, but have reached the ages of 26 and 37 years. Hence, protein C levels of 5% appear sufficient to avoid life-threatening clinical symptoms in the neonatal period.
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