The report of an Italian family with heterozygous protein C deficiency.
A heterozygote protein C deficit was found in 4 members of the same family. The propositus is a 40 year old male with a clear thrombotic tendency. This included repeated thrombophlebitis of the right leg, and one episode of pulmonary embolism. Arterial thrombosis was not noted. The anticoagulant therapy undertaken by the patient appears to be of some benefit in the sense that no recurrence of thrombotic manifestations occurred. One brother and two nephews of the propositus, even though asymptomatic showed reduced levels of Protein C both as activity and antigen. The parallel reduction of Protein C activity and antigen points towards a "true" deficit of Protein C. The normal, although reduced, pattern in the crossed immunoelectrophoresis supplies further confirmation to this interpretation.
Girolami
A
A
Institute of Medical Semeiotics, University of Padua, Medical School, Italy.
Cappellato
M G
MG
Lazzaro
A R
AR
Simioni
P
P
Boscaro
M
M
D000328:Adult; D001780:Blood Coagulation Tests; D006580:Genetic Carrier Screening; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency
D011486:Protein C