Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C/T mutation, in a patient with portal and mesenteric venous thrombosis.
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.
Elhajj
Ihab I
II
Department of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon.
Salem
Ziad M K
ZM
Birjawi
Ghina A
GA
Taher
Ali T
AT
Soweid
Assaad M
AM
D000328:Adult; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics*; D008297:Male; D008641:Mesenteric Vascular Occlusion / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D008642:Mesenteric Veins / Q000000981:diagnostic imaging; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D011169:Portal Vein / Q000000981:diagnostic imaging; D011516:Prothrombin / Q000235:genetics*; D014463:Ultrasonography; D020246:Venous Thrombosis / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*
D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)