Leiden factor V mutation in four patients with small bowel infarctions

• Published in: Gastroenterology (New York, N.Y. 1943) Vol. 113; no. 1; p. 322
• Main Authors: Heresbach, D, Pagenault, M, Gueret, P, Crenn, P, Heresbach-Le Berre, N, Malledant, Y, Fauchet, R, Horellou, M H, Silver, J, Messing, B, Bretagne, J F
• Format: Journal Article
• Language: English
• Published: United States 01.07.1997
• Subjects: Adult; Factor V - genetics; Female; Heterozygote; Homozygote; Humans; Infarction - blood; Infarction - genetics; Infarction - surgery; Intestine, Small - blood supply; Male; Mesenteric Arteries; Mesenteric Vascular Occlusion - blood; Mesenteric Vascular Occlusion - complications; Mesenteric Vascular Occlusion - genetics; Mesenteric Veins; Middle Aged; Mutation; Polymerase Chain Reaction; Thrombosis - blood; Thrombosis - complications; Thrombosis - genetics
• ISSN: 0016-5085
• DOI: 10.1016/S0016-5085(97)70110-0

The Leiden factor V mutation is observed in 20% of unexplained lower limb venous thromboses and involves substitution of the arginine residue at position 506 by glutamine (R506Q). It is known to decrease the anticoagulant activity of activated protein C. This case report describes 4 cases of small bowel infarction (SBI) associated with the presence of this mutation. Two cases of arterial and 2 cases of venous SBI were observed. Extensive assessment excluded the usual causes of SBI and plasma hypercoagulation syndrome (antithrombin III, protein C, and protein S deficiency and myeloproliferative syndrome). An abnormal resistance to activated protein C was observed. Molecular analysis consisting of polymerase chain reaction amplification and digestion with MnlI showed that 2 patients were heterozygous and 2 were homozygous for the R506Q mutation. Despite familial history of thrombosis in only 1 patient, first- and second-degree relatives of 2 patients also had the presence of the mutation. Examination for the presence of abnormal resistance to activated protein C should be part of the etiological assessment of SBI. Its presence may warrant consideration of long-term anticoagulant therapy, especially for patients with shortened small bowel who are treated by home parenteral nutrition with deep venous access.