Association of inherited dysfibrinogenaemia and protein C deficiency in two unrelated families.
An inherited association of dysfibrinogenaemia and protein C deficiency was found in three members of the same family. The propositus was a 48-year-old man who suffered from severe and rapidly complicated atherosclerosis of the aorta and lower limbs arteries, which perhaps suggests that the association of these two molecular abnormalities may have enhanced the thrombotic process. The abnormal fibrinogen had a reduced ability to bind thrombin which may be thrombogenic. We found the same inherited association of dysfibrinogenaemia and protein C deficiency in a patient with venous thrombosis. The functional abnormality of the fibrinogen, which could have been responsible for thrombosis, was delayed proteolysis by plasmin. Not only fibrinogen, but also fibrin clots were resistant to plasmic degradation. These observations raise two questions: (1) Is the association of a protein C deficiency with a dysfibrinogenaemia fortuitous or the result of a common mechanism? (2) Is there a link between an increased thrombotic tendency and either both of the defects of haemostasis that we have found, or only one of them?
Gandrille
S
S
Laboratoire d'Hématologie, UER de Biologie Expérimentale et Humaine, Université Paris, France.
Priollet
P
P
Capron
L
L
Roncato
M
M
Fiessinger
J N
JN
Aiach
M
M
D000328:Adult; D001778:Blood Coagulation Disorders / Q000150:complications / Q000235:genetics*; D005260:Female; D005337:Fibrin / Q000378:metabolism; D005340:Fibrinogen / Q000235:genetics* / Q000302:isolation & purification; D005344:Fibrinopeptide A / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020151:Protein C Deficiency
D005344:Fibrinopeptide A; D005337:Fibrin; D005340:Fibrinogen