[Thrombosis in a probable double heterozygote young man from an asymptomatic family with protein C deficiency and protein C dysfunction].
A family with combined quantitative and qualitative protein C deficiency is presented. The probably double heterozygote propositus with 7% residual amidolytic protein C activity had deep leg vein thrombosis at the age of seventeen. Other family members were asymptomatic.
Tsakiris
D A
DA
Department für Innere Medizin, Kantonsspital Basel.
Marbet
G A
GA
Zbinden
B
B
Duckert
F
F
Biland
L
L
D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D001796:Blood Protein Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020151:Protein C Deficiency; D013924:Thrombophlebitis
Thrombose bei einem wahrscheinlich doppelt-heterozygoten jungen Mann aus einer asymptomatischen Familie mit Protein-C-Mangel und Protein-C-Dysfunktion.