Prevalence of factor V Leiden and the G20210A prothrombin-gene mutation in inflammatory bowel disease.
A hypercoagulable state has been hypothesized as a contributing factor in the pathogenesis of inflammatory bowel disease (IBD); moreover, such patients have an increased risk of thrombotic complications. The aim of the present paper was to study the prevalence of the two most important causes of inherited thrombophilia: factor V Leiden and the G20210A prothrombin-gene mutation in patients with Crohn's disease (CD) and ulcerative colitis (UC). Fifty-two patients affected by IBD (33 UC and 19 CD, 16 female and 36 male; mean age, 42 years) and 156 healthy controls (48 female and 108 male; mean age, 37 years) were studied. Seven out of 52 patients (13%) had previous thrombotic events. High molecular weight DNA was analysed for the presence of factor V Leiden and the G20210A prothrombin-gene mutation. One out of 52 IBD patients (1.9%) and three out of 156 control subjects (1.9%) were heterozygous for factor V Leiden. One IBD patient (1.9%) and four healthy controls (2.6%) were heterozygous for the prothrombin-gene mutation. The prevalence of the two mutations was similar in patients and controls. In the subgroup of IBD patients with previous thrombotic events, only one patient was heterozygous for the prothrombin-gene mutation. Factor V Leiden and the G20210A prothrombin-gene mutation do not seem to play a major role in the pathogenesis of IBD or be associated with an increased incidence of thrombotic complications, but with limited data.
Department of Internal Medicine, Catholic University of Rome, Italy. alfredopapa@hotmail.com
A
A
Papa
V
V
De Stefano
A
A
Gasbarrini
P
P
Chiusolo
R
R
Cianci
I
I
Casorelli
K
K
Paciaroni
G
G
Cammarota
G
G
Leone
G
G
Gasbarrini
D000328:Adult; D000368:Aged; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D004247:DNA / Q000032:analysis; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D004247:DNA