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)

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

The present report describes the safe retrieval of caudally migrated optional inferior vena cava (IVC) filters with significant IVC penetration. Three patients had optional IVC filters placed for deep vein thrombosis/pulmonary emboli and contraindications for anticoagulation. Subsequent imaging showed caudal migration and penetration of the filter legs through the IVC wall. All filters were removed without major complications. One patient experienced abdominal pain after filter removal, which required no treatment. Caudal migration of optional filters with IVC wall penetration by the filter legs may be more common with new filter designs in which the secondary and primary struts are separated.
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PMID:Retrievability of optional inferior vena cava filters with caudal migration and caval penetration: report of three cases. 2040 Mar 34

Anderson-Fabry disease (AFD) is an X-linked recessive lysosomal disease caused by alpha-galactosidase A (alpha-gal) deficiency, causing progressive glycosphingolipid storage in various organ systems. Headache is a frequent symptom. Cerebral magnetic resonance imaging (MRI) often shows multiple white matter lesions (WML), like those seen in patients affected by migraine, in particular with aura (MA). To our knowledge, there are no reports about the prevalence of AFD in patients with MA. The objective of the study was to determine AFD prevalence, as assessed by alpha-gal activity and genetic tests, in MA patients. We evaluated 73 consecutive patients followed by the Headache Centre of our Department with a diagnosis of MA. They were screened for migraine characteristics and cerebrovascular risk factors. Gaseous contrast transcranial Doppler was used to diagnose right-to-left shunt and MRI to detect WML. All patients underwent blood test to evaluate peripheral alpha-gal activity and to identify alpha-gal gene mutations. Of 73 consecutive screened subjects (59 females, 14 males; mean age 38.3 +/- 11.8 years), the known GLA pathologic mutation p.[Asp313Tyr] was found in a 38-year-old woman, with a history of MA, deep venous thrombosis and abdominal pain. Cerebral MRI showed small WML. This is the first study reporting AFD prevalence in a cohort of MA patients. We found a relatively high prevalence (about 1.37%) among the examined patients, even if this finding needs to be confirmed in a larger sample. Despite this high prevalence, it seems not necessary to screen systematically all MA patients for AFD, but since it is a treatable genetic disorder, it is worthwhile to consider it for the subgroup of patients presenting WML and other typical AFD symptoms.
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PMID:Fabry disease in patients with migraine with aura. 2046 14

Venous and arterial thromboembolism are both serious extraintestinal manifestations of inflammatory bowel disease (IBD). Acquired risk factors seem to play a more prominent role than congenital in promoting thrombotic events. Prevention of thromboembolism is thus mainly aimed at minimizing the acquired/reversible risk factors (e.g., inflammation, immobility, hospitalization, steroid therapy, central intravenous catheters, smoking, oral contraceptives, and deficiency of B vitamins and folate). The diagnosis of venous and arterial thromboembolism is extremely challenging and requires a high degree of vigilance. Deep vein thrombosis and pulmonary embolism may be clinically silent or manifest with only few specific symptoms. Thrombosis of the portal vein system may occur with nonspecific symptoms such as abdominal pain, nausea/vomiting, abdominal tenderness, ascites, and fever. The diagnosis of arterial thromboembolism may also be challenging, particularly when the splanchnic region is involved. Indeed, arterial thrombosis of the splanchnic region tends to be overlooked and misinterpreted as a clinical exacerbation of IBD. Early diagnosis plays a central role in optimizing the therapeutic intervention and reducing the risk of short-term and long-term thrombosis-associated complications. The decision regarding the duration of systemic anticoagulation must take into account the individual risk of intestinal bleeding.
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PMID:Thromboembolism in inflammatory bowel disease: an insidious association requiring a high degree of vigilance. 2145 56

May-Thurner syndrome is a rare clinical entity involving venous obstruction of the left lower extremity. May-Thurner syndrome most commonly presents with deep vein thrombosis. We describe an unusual presentation of a girl with a dragging abdominal pain mimicking the symptoms of a varicocele. Diagnosis can be made with MR venogram. There are many different treatment options but if compression of the vein is minimal conservative management is possible.
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PMID:Varicosities in an adolescent girl on laparoscopy: an unusual presentation of May-Thurner syndrome. 2159 Apr 81

Primary iliac vein aneurisms are extremely rare being described as anomaly, without any history of trauma, cardiovascular pathology or arteriovenous fistula. This clinical condition has a high rate of potentially fatal complications: pulmonary embolism; ruptured aneurism; deep vein thrombosis. There are only 7 cases of iliac vein aneurism described in the literature. We describe an additional case of a 59-year old patient presented with abdominal pain, right lower limb edema and palpable mass in the right iliac area. Ultrasound (US) revealed a liquid formation, confirmed by computed tomography (CT). Surgical removal of the aneurism with lateral venorrhaphy was performed. Postoperative evolution was uneventful. The patient is asymptomatic during 36 month follow-up.
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PMID:[Iliac venous aneurysm: a case report and review of literature]. 2169 69

A 63-year-old woman was admitted because she presented with acute lower abdominal pain and left leg pain without any history of trauma. Lower extremity venous duplex ultrasound demonstrated deep vein thrombosis in the left lower extremity. Computed tomography scan revealed high-density, irregular clumps in the pelvic region and a soft-tissue mass shadow in the right lower abdomen. Emergency laparotomy revealed a 1.5-cm longitudinal tear in the left common iliac vein. The vein was repaired primarily and the postoperative course was uneventful.
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PMID:Spontaneous rupture of the left common iliac vein. 2170 Apr 15

A 37-year-old man with advanced Friedreich's ataxia was referred to our emergency department with acute exacerbated abdominal pain of unclear aetiology. Laboratory tests showed slightly increased inflammatory parameters, elevated troponin and B-type natriuretic peptide, as well as minimal proteinuria. Transthoracic echocardiography revealed a pre-existing dilated cardiomyopathy. Abdominal sonography showed no pathological alterations. Owing to persistent pain under analgesia, a contrast-enhanced CT-abdomen was performed, which revealed a non-homogeneous perfusion deficit of the right kidney, although neither abdominal vascular alteration, cardiac thrombus, deep vein thrombosis nor a patent foramen ovale could be detected. Taking all clinical and radiological results into consideration, the current incident was diagnosed as a thromboembolic kidney infarction. As a consequence, lifelong oral anticoagulation was initiated.
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PMID:Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy. 2303 61

Inferior vena cava filters are considered a valuable therapeutic option in patients with deep vein thrombosis, subsequent pulmonary emboli, and contraindication for anticoagulation. However, these filters bear the risk of rare but serious complications (e.g., symptomatic caval perforation). We report our experiences with retrievable vena cava filters by means of an actual case and review the recent literature with special regard to filter-dependent delayed symptomatic vena cava perforations. Here, an inferior vena cava filter could be identified as the source of a patient's abdominal pain; after an interventional retrieval approach had failed, open surgical removal became necessary and led to the instant relief of this patient's symptoms. Retrievable vena cava filter removal should be performed in all cases as soon as no longer needed to avoid fatal complications.
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PMID:Perforated inferior vena cava filters as the cause of unclear abdominal pain. 2349 23

Thrombophlebitis of the portal venous system (PVS) with superimposed bacterial infection (septic pylephlebitis) is an extremely rare complication of Crohn's disease (CD), and therefore diagnosis of septic pylephlebitis is difficult without high clinical suspicion. A 16-year old male patient who was diagnosed with CD 3 months earlier was admitted with recurrent fever and abdominal pain. CD activity had been well controlled with conventional medical treatment during a follow-up period. Abdominal contrast-enhanced computed tomography showed massive thrombosis in the PVS without evidence of intra-abdominal infection, and blood cultures were positive for Streptococcus viridians. There was no evidence of deep vein thrombosis or pulmonary thromboembolism, and all laboratory tests for thrombophilia were normal. Based on these findings, the patient was diagnosed with septic pylephlebitis complicated with CD, and was successfully treated with intravenous antibiotic therapy combined with anticoagulation. This case suggests that early comprehensive evaluation is crucial for immediate diagnosis and proper treatment of septic pylephlebitis in patients with CD who present with fever and abdominal pain of unknown origin, even with stable disease activity and absence of other intra-abdominal infections.
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PMID:Septic pylephlebitis as a rare complication of Crohn's disease. 2362 37


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