Asymptomatic coinheritance of heterozygous plasminogen deficiency and the factor VLeiden mutation.
Deficiency of plasminogen has been postulated by some authors as a possible thrombophilic abnormality, though this remains controversial. We have previously identified a cohort of individuals with plasminogen deficiency from a study to determine plasminogen levels within the general population. All were asymptomatic for thrombosis at initial identification. We followed this cohort over a 5-year period, with no venous thrombotic events recorded, although one patient did suffer a myocardial infarction. One family was identified with asymptomatic coinheritance of both plasminogen deficiency and the factor VLeiden mutation. There was no apparent venous thrombotic risk conferred upon any of our cohort of individuals by inheritance of plasminogen deficiency, and, in addition, the combination of the factor VLeiden mutation with plasminogen deficiency which was observed in three individuals did not result in thrombotic events. However, the cohort is small and we cannot entirely exclude plasminogen deficiency as a possible mild thrombophilic defect.
McColl
M D
MD
Department of Haematology, Royal Infirmary, Glasgow, UK.
Tait
R C
RC
Walker
I D
ID
McCall
F
F
Conkie
J A
JA
Perry
D J
DJ
D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D010958:Plasminogen