A Patient with Ulcerative Colitis Complicated by Systemic Vein Thrombosis

Area of Science:

• Gastroenterology
• Hematology
• Genetics

Background:

• Inflammatory bowel disease (IBD), including Crohn's disease and ulcerative colitis (UC), is associated with an elevated risk of thromboembolic events.
• Deep venous thrombosis (DVT) and pulmonary embolism (PE) are the most frequent thrombotic complications in IBD patients.
• While genetic factors can influence coagulation, specific mutations are less commonly identified as primary drivers in this population.

Observation:

• A young female patient with a history of mild ulcerative colitis presented with a disease exacerbation.
• During this exacerbation, she experienced multiple, widespread thrombotic incidents.
• Diagnostic evaluation revealed a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene.

Findings:

• The MTHFR gene mutation was identified as the likely underlying cause of the severe thrombotic events in this UC patient.
• This case underscores a potential link between MTHFR mutations and heightened thrombotic risk, even in mild UC.
• The thrombotic complications were extensive, involving multiple sites beyond typical DVT or PE.

Implications:

• Identifying MTHFR mutations in IBD patients may aid in risk stratification for thromboembolic complications.
• Genetic screening for MTHFR may be considered in IBD patients presenting with unusual or severe thrombotic events.
• This case highlights the importance of considering genetic predispositions in the management of IBD-associated coagulopathy.