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Leiden factor V mutation in four patients with small bowel infarctions
D Heresbach1, M Pagenault, P Gueret
1Department of Gastroenterology and Nutritive Supportive Therapy, University Hospital Pontchaillou, Rennes, France.
Gastroenterology
|July 1, 1997
Summary
The Leiden factor V mutation (R506Q) is linked to small bowel infarction (SBI). Testing for this mutation is crucial for diagnosing unexplained SBI and guiding treatment, particularly for patients with shortened small bowels.
Area of Science:
- Vascular Medicine
- Genetics
- Gastroenterology
Background:
- The Leiden factor V mutation (R506Q) is a common cause of inherited thrombophilia, associated with reduced anticoagulant activity of activated protein C.
- Small bowel infarction (SBI) can result from various causes, including hypercoagulable states.
Observation:
- This case report details four patients experiencing small bowel infarction (SBI), with two cases of arterial and two of venous origin.
- Standard etiological investigations for SBI and hypercoagulation syndromes were negative in these patients.
- All four patients exhibited abnormal resistance to activated protein C.
Findings:
- Molecular analysis confirmed the R506Q mutation in all four patients, with two being heterozygous and two homozygous.
- The mutation was also identified in relatives, suggesting a familial predisposition.
- The Leiden factor V mutation was identified as a potential underlying cause of SBI in these cases.
Implications:
- Screening for the Leiden factor V mutation should be considered in the etiological workup of unexplained small bowel infarction.
- Identifying this mutation may necessitate long-term anticoagulant therapy, especially in patients with compromised small bowel length and central venous access for parenteral nutrition.