Leiden mutation in patients with Crohn's disease

Area of Science:

• Genetics
• Gastroenterology
• Hematology

Background:

• Inherited resistance to activated protein C, often due to the Factor V Leiden mutation, is a significant risk factor for venous thrombosis.
• The Factor V Leiden mutation is prevalent in at least 5% of the European population, increasing thrombosis risk substantially in heterozygous and homozygous individuals.
• The role of this inherited thrombophilia in the pathophysiology of Crohn's disease remains unclear.

Purpose of the Study:

• To investigate the potential association between the Factor V Leiden mutation and the clinical manifestation of Crohn's disease.
• To determine the frequency of the Leiden mutation in patients diagnosed with Crohn's disease.

Main Methods:

• Study included 34 patients with Crohn's disease, assessing risk factors like oral contraceptive use, steroid use, and smoking.
• Blood tests measured fibrinogen, activated partial thromboplastin time (APTT), lupus anticoagulant, and anticardiolipin (ACL) antibodies.
• The Factor V Leiden mutation was identified using the polymerase chain reaction (PCR) method.

Main Results:

• Heterozygosity for the Factor V Leiden mutation was detected in 30 out of 34 patients (25%).
• Elevated fibrinogen levels were observed in five patients, and one patient had a lupus anticoagulant.
• No patients in the study group exhibited anticardiolipin antibodies.

Conclusions:

• The high frequency of the Leiden mutation in Crohn's disease patients suggests a potential genetic predisposition.
• This finding indicates a possible new genetic background contributing to the development or manifestation of Crohn's disease.
• Further research is warranted to elucidate the precise role of thromboembolic events and the Leiden mutation in Crohn's disease.