The factor V Leiden mutation (R506Q) is not a major risk factor for migrainous cerebral infarction

The etiology of migrainous cerebral infarction is unknown, but may involve prothrombotic coagulation abnormalities. Therefore, we studied resistance to activated protein C and the presence of the Arg506Gln factor V Leiden mutation in 20 patients with migrainous cerebral infarction. Only one heterozygous carrier of the mutation was found, whereas other patients did not carry the mutation. This indicates that the factor V Leiden mutation is not a major risk factor for migrainous cerebral infarction.     

Portal and mesenteric vein thrombosis in a patient heterozygous for a mutation (Arg506-->Gln) in the factor V gen (factor V Leiden)

Neurological complications such as spinal cord compression has rarely been reported both in the solitary type of osteochondroma or in multiple osteochondromas. We report a a 65-year-old patient with a thoracic osteochondroma involving the neural arch of T6, and the corresponding rib, who was followed-up for 5 years. Approximately 3 years after partial surgical removal, the lesion manifested as a dumbbell mass passing through the neural foramen leading to cord compression, and a hemilaminectomy was performed with subtotal tumor excision. A clinical follow-up 2 years later revealed normal findings.     

Antenatal screening for factor V Leiden mutation: a critical appraisal

Because of its acid-labile nature, omeprazole is usually administered as encapsulated enteric-coated granules. The gelatin capsule and acid-resistant coating are essential for effective drug absorption and optimal bioavailability. OBJECTIVE: This study tested the effectiveness of nonencapsulated, intact omeprazole granules in suppressing intragastric acidity when administered through a gastrostomy. METHODS: Fourteen male patients with established gastrostomies underwent a baseline 24-h intragastric pH monitoring study while off any acid-suppressing medication. Via the gastrostomy, they then received 7 days of dosing with 20 mg omeprazole as intact granules in orange juice. Twenty-four-hour intragastric pH monitoring was repeated on the seventh day. RESULTS: Mean intragastric pH during the baseline study was 1.8 (+/- SD 0.7). This pH increased to 4.9 +/- 0.8 with omeprazole granules (p < 0.0001). Median intragastric pH rose from 1.3 to 5.3 (p < 0.0001). During the baseline study, intragastric pH was above 3 for 21.2 +/- 14.1%, above 4 for 14.9 +/- 11.0%, and above 5 for 9.5 +/- 8.4% of the 24-h recording period. Corresponding values after 7 days of omeprazole were 80 +/- 15.1%, 72.5 +/- 16.3%, and 59.1 +/- 16.6% (p < 0.0001 for each comparison with pretreatment values). CONCLUSION: Omeprazole effectively suppresses intragastric acidity when given through a gastrostomy tube as nonencapsulated, intact granules.     

Large-scale screening for factor V Leiden mutation in a north-eastern German population

A 37-year-old man was referred with thoracic pain after a deceleration trauma. He also had a cerebral contusion and a wrist fracture. There were no sings of hypovolemic shock. Computerized tomography (CT) of the chest and transoesophageal echocardiography (TEE) demonstrated a type B aortic dissection originating just distal to the left subclavian artery. There was a patent false lumen without rupture or distal ischaemia. Conservative treatment was given. A paralytic ileus developed and abdominal complaints persisted for several months. Angiography showed normal patency of mesenteric vessels. On follow-up, 3 years after the accident a slight aortic dilation was found on CT thorax without development of a post-dissection aneurysm. Blunt thoracic injury to the aorta usually gives rise to aortic rupture in the region of the isthmus, which can be complete or partial. In the latter case a false aneurysm may develop. An intimal tear after blunt trauma leading to type B aortic dissection rarely occurs. General principles regarding treatment of type B dissection also apply to this particular condition.     

A case of hypereosinophilic syndrome associated with factor V Leiden mutation and thrombosis

The authors present a case of serotonin syndrome in a prisoner who was transferred to a psychiatric hospital because of increasing psychotic symptoms. They discuss some factors that appear to put some populations at higher risk for such syndromes, and recommend increased vigilance for such problems in those identified populations.     

The factor V Leiden mutation increases the risk of venous thrombosis in patients with inflammatory bowel disease

BACKGROUND & AIMS: Thromboembolic disease is a significant cause of morbidity and mortality in patients with inflammatory bowel disease (IBD). The aim of this study was to determine the incidence and possible association of the factor V Leiden mutation with the development of thrombosis in patients with IBD. METHODS: This retrospective study included 11 patients with IBD and arterial or venous thrombosis and 51 patients with IBD and no history of thrombosis who were matched for age, sex, ethnic/racial origin, and type of IBD (controls). The presence of the factor V Leiden mutation was determined by coagulation assay and confirmed by a polymerase chain reaction method. RESULTS: Four of 11 IBD patients (36%) with thrombosis and 2 of 51 IBD controls (4%) were heterozygotes for the factor V Leiden mutation (relative risk, 14.00; 95% confidence interval, 1.55-169.25; P = 0.009, Fisher exact test). All thrombotic events in the patients with activated protein C resistance were venous with a calculated prevalence of 50% (4 of 8 patients) and a relative risk of venous thrombosis in IBD patients with factor V Leiden of 23 (95% confidence interval, 2-294; P = 0.005). CONCLUSIONS: In patients with IBD, inheritance of the factor V Leiden mutation results in a significant increased risk of venous thrombosis.     

Is hormone replacement a risk factor for ischemic stroke in women with factor V Leiden mutation?

OBJECTIVE: To describe a patient with multifocal cerebral ischemia whose only identified potential risk factors were use of postmenopausal hormone replacement and heterozygosity to factor V Leiden mutation. DESIGN: A case report. SETTING: A tertiary care center. PATIENT: A 51-year-old woman taking hormone replacement (0.625 mg/d of estrogen alternating with 10 mg/d of medroxyprogesterone) presented with a generalized tonic-clonic seizure. She had persistent multifocal non-enhancing lesions on magnetic resonance imaging of the brain. A stereotactic biopsy of the brain performed to exclude gliomatosis cerebri was consistent with cerebral ischemia. An extensive evaluation to uncover the cause of stroke revealed only heterozygosity to factor V Leiden mutation. MAIN OUTCOME AND RESULTS: Hormonal replacement was discontinued and the patient had no recurrent ischemic strokes. CONCLUSIONS: Postmenopausal hormonal replacement may be a risk factor for ischemic stroke in women with the factor V Leiden mutation. Ongoing trials of hormonal replacement provide an opportunity to test this hypothesis.     

Multigenic thrombophilia: genetic anomaly of factor II and mutation of factor V Leiden. Study in a French family

BACKGROUND: A genetic variation of the prothrombin (factor II) gene, a G to A transition at nucleotide position 20210, was recently found in patients with familial thrombophilia (predisposition to venous thrombosis). It seems to be frequent in patients with the factor V Leiden mutation. We report a family with the factor V Leiden and/or the genetic variation of prothrombin in 3 members. CASE REPORT: The patient had repeated episodes of deep vein thromboses starting at the age of 30 during the 4th pregnancy. She is a heterozygous carrier of both the factor V Leiden nutation and the prothrombin mutation 20210 A. She has 4 asymptomatic children, aged 28 to 32 and 3 of them have been explored: one son has the prothrombin mutation, one daughter the factor V Leiden and one has none of them. DISCUSSION: This case report illustrates the polygenic nature of thrombophilia which may explain the heterogeneity of clinical expression observed in isolated congenital abnormalities, especially in factor V Leiden mutation.     

Regulation of thrombin formation by activated protein C: effect of the factor V Leiden mutation

Recent developments in arterial hemodynamics have indicated that the human arterial pressure waveform contains more information than is available from conventional sphygmomanometry. This information includes indices describing left ventricular systolic function and arterial properties. A cheap and reliable system was designed and implemented using readily available hardware for recording, analysis, and storage of arterial pressure waveforms. The system embodies an online technique for synthesizing ascending aortic pressure waveform from recordings made at different peripheral sites of the human arterial system. Eighteen indices are then derived from arterial pressure waveforms. This system can be used in an outpatient clinic for assisting in current pharmacological management of cardiovascular disease. It can also be extended to the critical care area, where the extra information provided aid in assessing the patient's condition.     

Epidemiology of factor V Leiden: clinical implications

A pronounced similarity exists between liver allograft rejection and graft-versus-host disease (GVHD) in the damage and eventual destruction of small intrahepatic bile ducts. Although an immunologic reaction has an important role, precisely identifying the target antigens or reason for persistence of the immune response has been difficult. An important difference between GVHD and liver rejection is the development of obliterative arteriopathy only in rejection. The three main histopathologic features of acute rejection are a predominantly mononuclear but mixed portal inflammation, subendothelial inflammation of portal or terminal hepatic veins (or both), and bile duct inflammation and damage. In acute rejection, a controversial issue is determining when therapeutic intervention is needed. The recommended approach is to base treatment on a combination of histopathologic changes and liver injury or dysfunction. Chronic rejection, which usually does not occur before 2 months after transplantation, is characterized by two main histopathologic features: (1) damage and loss of small bile ducts and (2) obliterative arteriopathy. Acute GVHD begins within the first month after transplantation and most commonly involves the skin, gastrointestinal tract, and liver, whereas chronic GVHD usually develops more than 80 to 100 days after liver transplantation and affects 30 to 50% of long-term survivors. Recognition of the early, cellular stages of chronic GVHD is important in preventing irreversible damage.     

C677T MTHFR mutation and factor V Leiden mutation in patients with TIA/minor stroke: a case-control study

A common C677T mutation in the gene for the enzyme 5,10-methylenetetrahydrofolate reductase (5,10-MTHFR) has been linked to elevated levels of homocysteine and was therefore suspected to be a candidate genetic risk factor for arterial occlusive disease. Another mutation, factor V Leiden, has been established as a common hereditary risk factor for venous thrombosis, but its role in arterial disease remains controversial. We investigated the prevalence of both the C677T MTHFR mutation and the factor V Leiden mutation in 81 patients with transient ischemic attack (TIA) or minor stroke (MS) and in 81 age- and sex-matched control subjects free from clinically manifest vascular disease. We further compared clinical and laboratory data as well as clinical course of patients carrying the factor V Leiden mutation alone or in combination with the C677T MTHFR mutation and mutation-free patients. The prevalence of the MTHFR mutation did not differ between patients and control subjects with 11.1% homozygous carriers in both groups (OR for homozygous carriers 1.0; 95% CI 0.38-2.66). However, there was a trend towards a higher prevalence of carriers of factor V Leiden in patients (12.3%) than in control subjects (4.9%) (OR 2.75; 95% CI 0.83-9.17;p=0.09). Furthermore, we found some evidence that the combined occurrence of the C677T MTHFR mutation and factor V Leiden might unfavorably affect the clinical course of the disease, but the number of respective patients was small. Larger studies with a greater number of carriers of both the C677T MTHFR mutation and factor V Leiden seem therefore warranted.     

"Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds

We report a prospective, stratified study of 60 PCA-cups and 60 RM-polyethylene cups which have been followed for a median time of 90 months, with annual radiography. The radiological migration of cups was measured by the computer-assisted EBRA method. A number of threshold migration rates from 1 mm in the first year to 1 mm in five years have been assessed and related to clinically determined revision rates. A total of 28 cups showed a total migration of 1 mm or more within the first two years; 13 of these cups have required revision and been exchanged. The survival curves of cups which had previously shown early migration were considerably different from those without early migration. For cups with a migration of less than 1 mm within the first two years the mean survival at 96 months was 0.96 +/- 0.02; for migrating cups, it was 0.63 +/- 0.11 (log-rank test, p=0.0001; chi-square value=39.4). Early migration is a good predictor for late loosening of hip sockets.