scholarly journals Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase Gene Mutation and Normal Homocysteine Levels

Cureus ◽  
2021 ◽  
Author(s):  
Ghulam Mujtaba Ghumman ◽  
Rizwan Ishtiaq ◽  
Deepti Avasthi
Keyword(s):  
Portal Vein ◽  
Gene Mutation ◽  
Portal Vein Thrombosis ◽  
Methylenetetrahydrofolate Reductase ◽  
Vein Thrombosis ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Portal and Mesenteric Vein Thromboses in a Patient With Prothrombin G20210 Mutation, Elevated Lipoprotein (a), and High Factor VIII

2007 ◽  
Vol 14 (4) ◽  
pp. 481-485 ◽  
Author(s):  
Hirmerova Jana ◽  
Liska Vaclav ◽  
Mirka Hynek ◽  
Chudacek Zdenek ◽  
Treska Vladislav
Keyword(s):  
Portal Vein ◽  
Factor Viii ◽  
Portal Vein Thrombosis ◽  
Methylenetetrahydrofolate Reductase ◽  
Coagulation Factor ◽  
Prothrombin G20210a ◽  
Lipoprotein A ◽  
Mesenteric Vein ◽  
Vein Thrombosis ◽  
G20210a Mutation

A 65-year-old man was examined for abdominal pain. Portal and mesenteric vein thromboses were described by ultrasound and computed tomography. No local cause was found. The patient had a positive history of venous thromboembolism. Thrombophilia workup revealed prothrombin G20210A mutation (heterozygous), C677T mutation of methylenetetrahydrofolate reductase gene (homozygous), elevated level of lipoprotein (a), and high level of coagulation factor VIII. Anticoagulation was started and planned for a long-term duration. The etiology of portal vein thrombosis is often multifactorial, with various combinations of systemic factors (inherited or acquired prothrombotic conditions) and local precipitating factors (inflammation, injury to the portal venous system, cancer of the abdominal organs, cirrhosis). The reported prevalence of hypercoagulable states in patients with portal vein thrombosis has been very heterogeneous so far. Some authors support a role of the prothrombin G20210A mutation. In the reported patient, this mutation was revealed in a combination with other hypercoagulable states.

A common methylenetetrahydrofolate reductase gene mutation and longevity

1998 ◽  
Vol 141 (2) ◽  
pp. 315-319 ◽  
Author(s):  
Lars Brattström ◽  
Ying Zhang ◽  
Mats Hurtig ◽  
Helga Refsum ◽  
Staffan Östensson ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Methylenetetrahydrofolate Reductase ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene
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