RGD Reference Report - Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. - Rat Genome Database

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Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.

Authors: Mahmoud, A E  Elias, E  Beauchamp, N  Wilde, J T 
Citation: Mahmoud AE, etal., Gut. 1997 Jun;40(6):798-800. doi: 10.1136/gut.40.6.798.
RGD ID: 15036813
Pubmed: PMID:9245936   (View Abstract at PubMed)
PMCID: PMC1027208   (View Article at PubMed Central)
DOI: DOI:10.1136/gut.40.6.798   (Journal Full-text)


BACKGROUND: The factor V Leiden (FVL) mutation has been shown to be the most frequent cause of hereditary thrombophilia. The prevalence of the mutation in patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) has not been fully elucidated.
AIMS: To investigate the association between the FVL mutation and BCS and PVT.
PATIENTS: Thirty patients with BCS, 32 patients with PVT, and a control group of 54 patients with liver disorders and no history of thrombosis.
METHODS: The factor V gene was analysed for the presence of the FVL mutation by a polymerase chain reaction (PCR) technique. The presence of the mutation was confirmed by DNA sequencing.
RESULTS: Seven (23%) patients with BCS, one (3%) patient with PVT, and three (6%) patients in the control group were identified as having the FVL mutation. There of the BCS patients had coexisting hypercoagulable states. The prevalence of the FVL mutation was significantly higher in patients with BCS compared with patients with PVT and controls (p < 0.04). The FVL mutation was the second most common aetiology associated with BCS.
CONCLUSION: The FVL mutation is an important factor in the pathogenesis of BCS and screening for the disorder must be included in the investigation of patients presenting with this condition. In contrast, the FVL mutation is not a major predisposing factor in the pathogenesis of PVT.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F5MouseBudd-Chiari syndrome susceptibilityISOF5 (Homo sapiens)DNA:missense mutation:cds:R506Q (human)RGD 
F5HumanBudd-Chiari syndrome susceptibilityIAGP DNA:missense mutation:cds:R506Q (human)RGD 
F5RatBudd-Chiari syndrome susceptibilityISOF5 (Homo sapiens)DNA:missense mutation:cds:R506Q (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
F5  (coagulation factor V)

Genes (Mus musculus)
F5  (coagulation factor V)

Genes (Homo sapiens)
F5  (coagulation factor V)


Additional Information