Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C/T mutation, in a patient with portal and mesenteric venous thrombosis

Hematol J. 2004;5(6):540-2. doi: 10.1038/sj.thj.6200560.

Abstract

We herein report a 34-year-old man who was investigated for severe abdominal pain. Portal vein thrombosis (PVT) and mesenteric vein thrombosis (MVT) were diagnosed. An association with two predisposing factors for thrombosis was noted: (1) heterozygous factor II 20210G/A mutation and (2) homozygous methylenetetrahydrofolate reductase (MTHFR) 677C/T mutation with hyperhomocysteinemia. Our case is of particular interest because the patient reported herein, is homozygote for the MTHFR 677C/T mutation, while the only two other cases reported in the literature with similar gene mutations, were heterozygotes for the mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Heterozygote
  • Homozygote
  • Humans
  • Hyperhomocysteinemia / genetics*
  • Male
  • Mesenteric Vascular Occlusion / complications
  • Mesenteric Vascular Occlusion / diagnostic imaging
  • Mesenteric Vascular Occlusion / genetics*
  • Mesenteric Veins / diagnostic imaging
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Point Mutation*
  • Portal Vein / diagnostic imaging
  • Prothrombin / genetics*
  • Ultrasonography
  • Venous Thrombosis / complications
  • Venous Thrombosis / diagnostic imaging
  • Venous Thrombosis / genetics*

Substances

  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)