Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C/T mutation, in a patient with portal and mesenteric venous thrombosis. 1557 Mar 1

Hepatic venous thrombosis (Budd-Chiari) in evolution is a rare phenomenon and carries a high morbidity and mortality. We describe the case of a 39-year-old Bangladeshi lady who presented with severe abdominal pain secondary to a perforated duodenal ulcer and during her hospital admission developed an asymptomatic Budd-Chiari syndrome (BCS). Our report highlights the important role of an inflammatory focus, and how this process with an associated reactive thrombocytosis may act as a trigger for the development of BCS in an individual with predisposing risk factors. Our patient had been on the contraceptive pill, and was homozygous for the C677T mutation of 5,10-methylenetetrahydrofolate reductase, which results in hyperhomocysteinaemia. These pro-thrombotic risk factors were compounded by the thrombogenic potential of subsequent laparoscopic surgery, and resulted in an evolving thrombus that progressed into the inferior vena cava causing hepatic infarction. A particular feature of this case was the radiological demonstration of complete regression of the thrombus and the hepatic parenchymal changes, upon resolution of the inflammation and normalization of the platelet count. These changes occurred with oral anticoagulation as the only treatment modality, since our patient declined systemic thrombolysis. The demonstration of complete radiological resolution raises the question of how long one should continue oral anticoagulants and, indeed, whether in some instances a conservative approach may be the best management strategy for evolving BCS.
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PMID:'Nipped in the Budd': hepatic venous outflow obstruction in evolution. 1564 37

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.
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PMID:Portal and mesenteric vein thromboses in a patient with prothrombin G20210 mutation, elevated lipoprotein (a), and high factor VIII. 1816 Jun 13

The case of a 30-year-old man with bowel infarction due to mesenteric venous thrombosis and multiple risk factors, including mild hyperhomocysteinemia due to methylenetetrahydrofolate reductase C677T polymorphism and recent abdominal surgery, is reported. His clinical manifestation consisted of persistent abdominal pain; complementary examinations showed nonspecific findings such as leukocytosis and dilated loops of the bowel. The diagnosis of mesenteric venous thrombosis with bowel infarction was made during laparotomy and confirmed by anatomopathologic examination. He underwent segmental resection associated with lifelong anticoagulant therapy and vitamin B supplementation with a favorable course.
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PMID:Mesenteric venous thrombosis with bowel infarction and hyperhomocysteinemia due to homozygous methylenetetrahydrofolate reductase C677T genotype. 1900 Sep 82

Mesenteric venous thrombosis (MVT), an unusual location of deep venous thrombosis, occurs especially on a predisposing terrain. Recently, hyperhomocysteinemia has been shown to be associated with venous thrombosis, often recurrent and located in an uncommon site. Hyperhomocysteinemia is mainly due to genetic causes (mutations 677C>T and 1298A>C of methylenetetrahydrofolate reductase) and vitamins B deficiencies. MVT may present as acute, subacute or chronic form. The clinical supposition of mesenteric thrombosis is based on the discrepancy between the abdominal pain and the physical examination. The nonspecific character of the pain, mimicking peptic ulceration in some cases, and the possibility of an initial normal clinical examination may delay the diagnosis. The occurrence of the fever, rebound tenderness and guarding suggests progression to bowel infarction. MVT leads to peritonitis in 1/3 to 2/3 of cases. Laboratory blood tests are not helpful in confirming the diagnosis of venous thrombosis. Leukocytosis and metabolic acidosis are considered to be the most specific laboratory findings in patients with mesenteric ischemia. Abdominal computed tomography is the test of choice for the diagnosis. However, most of the cases are diagnosed during laparotomy or autopsy. Anticoagulant therapy administrated early increases the survival rate. Surgery is indicated in cases with bowel infarction or peritonitis.
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PMID:Mesenteric venous thrombosis: clinical and therapeutical approach. 1907 7