Association between obesity and venous thromboembolism.

BACKGROUND AND AIMS: Obesity is associated with numerous pathological conditions, including venous thromboembolism (VTE). VTE is a multifactorial disease; more than half of the hospitalized patients are at risk for VTE.We aimed to assess the risk of VTE associated with obesity, taking into account the class of obesity (according to the body mass index), gender, age and the intervention of other acquired risk factors. METHODS: A case-control study including 732 patients was designed. Collected data included: age, gender, body mass index, pregnancy/postpartum state, use of hormonal therapy, personal and family history of VTE, smoking, prolonged immobilization and the presence of comorbidities - acquired risk factors for VTE. The risk of VTE was expressed as odds ratio (OR) with 95% confidence interval. Multiple logistic regression analysis was used to detect the independent risk factors. P value <0.05 was considered significant statistic. RESULTS: Obesity was associated with a 6.2-fold increased risk for VTE. The risk of VTE associated with obesity was highest in patients aged >50 years and in cases included in classes II and III of obesity. The interaction between obesity and another acquired risk factor has almost doubled the risk of VTE. Multivariate logistic regression analysis showed obesity as an independent risk factor for VTE for both female and male patients. CONCLUSIONS: Obesity is an independent and moderate risk factor for VTE. The risk increases with body mass index, age and the presence of other acquired risk factors.

Genetic Risk Factors in Venous Thromboembolism.

Genetic risk factors predispose to thrombophilia and play the most important etiopathogenic role in venous thromboembolism (VTE) in people younger than 50 years old. At least one inherited risk factor could be found in about half of the cases with a first episode of idiopathic VTE.Roughly, genetic risk factors are classified into two main categories: loss of function mutations (such as deficiencies of antithrombin, protein C, protein S) and gain of function mutations, (such as prothrombin mutation G20210A, factor V Leiden). A revolutionary contribution to the genetic background of VTE was brought by the achievements of the genome-wide association studies which analyze the association of a huge number of polymorphisms in large sample size.Hereditary thrombophilia testing should be done only in selected cases. The detection of hereditary thrombophilia has impact on the management of the anticoagulation in children with purpura fulminans, pregnant women at risk of VTE and may be useful in the assessment of the risk for recurrent thrombosis in patients presenting an episode of VTE at a young age (<40 years) and in cases with positive family history regarding thrombosis.

A rare presentation of a relatively common disease: psoas abscess as a complication of chronic pancreatitis.

Psoas abscess is a rare condition that might represent a diagnostic challenge. We report the case of a 47 years old male patient with diabetes mellitus and chronic pancreatitis, who was admitted for fever and severe pain of the left shoulder, in spite of a normal rheumatologic exam. The pain was interpreted as Kehr's sign when complementary investigations revealed a perisplenic collection, leading to the irritation of the diaphragm; the collection was extended to the left psoas muscle and resulted in psoas abscess. The psoas abscess represents a very rare complication of pancreatitis, favored in this case by the diabetic terrain. After the needle aspiration and percutaneous catheter drainage, along with antibiotics, the course was favorable. The case illustrates the importance of the referred pain and the clinical difficulties in the assessment of psoas abscess, manifested here only with fever and antalgic position. A brief review of the literature is then presented.

The importance of homozygous polymorphisms of methylenetetrahydrofolate reductase gene in romanian patients with idiopathic venous thromboembolism.

BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors. AIMS: We aimed to assess the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic venous thromboembolism (VTE) in a Romanian population and the associated risk of VTE. STUDY DESIGN: We performed a case-control transversal study including 90 patients diagnosed with VTE and 75 sex- and age-matched controls. METHODS: MTHFR C677T and A1298C polymorphisms were detected using PCR-RFLP method. RESULTS: The homozygous MTHFR 677TT genotype, present in 18.8% of patients with VTE versus 6.6% of controls, was significantly associated with VTE (p= 0.021, OR= 3.26, 95%CI (1.141-9.313)). The heterozygous MTHFR A1298C genotype, presenting the highest prevalence in the VTE group (34.4%) as well as in controls (37.3%), was not associated with VTE (p=0.7). No associations were found for heterozygous MTHFR C677T (with a frequency of 32.2% in VTE and 37.3% in controls, p=0.492), respective homozygous MTHFR A1298C genotype (with a frequency of 1.1% in VTE and 2.6% in controls, p=0.456). CONCLUSION: Among MTHFR polymorphisms, only homozygosity for MTHFR 677TT may be considered a risk factor for VTE; the MTHFR A1298C polymorphism is not significantly associated with an increased risk of VTE.

Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in a patient with coronary artery disease and repetitive miscarriages.

We report the case of a woman, aged 53 years, admitted for the assessment of angina; her history revealed 3 unexplained miscarriages, all in the first trimester of pregnancy. Based on clinical manifestations and complementary examinations, the patient was diagnosed with stable angina class functional II, according to The Canadian Cardiovascular Society Classification. The assessment of the risk factors shows a moderate hyperhomocysteinemia, due to methylenetetrahydrofolate reductase polymorphism (MTHFR C677T), abdominal obesity and post-menopausal status. We interpreted hyperhomocysteinemia as the pathologic background explaining both cardiovascular and obstetrical conditions in our case. The patient started the combined therapy with folic acid, vitamin B6 and B12 along with the classical treatment for angina, and, 2 months later, homocysteinemia decreased by 28.6% and the clinical condition improved. There are still controversies regarding the role of homocysteine and its genetic determinant MTHFR C677T polymorphism in different pathologic conditions, including the homocysteine paradox: although effective and inexpensive for hyperhomocysteinemia lowering, the vitamins supplementation has not been proved to reduce significantly the recurrence of cardiovascular events. These interrelations are complex and future studies are required to improve the therapeutical strategy in these cases.

Superficial leiomyosarcoma of the scalp: a case report.

We present the case of a 91-year old female, with no family history of malignancy, diagnosed with primary superficial leiomyosarcoma G1 of the scalp with frontal bone lysis and intracranial extension. The particularity of this case is the rarity of this tumor and the uncommon location. Also the bone involvement, present in our case, has been seen only in a reduced number of patients, approximately 10% of the cases.

Correlations between clinical probability and Doppler ultrasound results in the assessment of deep venous thrombosis.

UNLABELLED: Although the assessment of deep venous thrombosis (DVT) is based on clinical examination, the complementary tests and especially Doppler ultrasound plays the most important role in DVT diagnosis. OBJECTIVES: We aimed to establish the correlations between the clinical probability of DVT based on Wells score and the results of Doppler ultrasound exam. METHOD: We included 382 patients with clinical supposition of DVT divided into 3 groups based upon the probability of DVT (Wells score): low, moderate and high, respectively. All the patients were examined by Doppler ultrasonography. RESULTS: We noticed that DVT was confirmed by Doppler ultrasonography in more than half of the cases; the highest percent of confirmed cases were in the patients with a high probability of DVT (70.58%) whereas the lowest percent was associated with the low clinical probability (14.63%). DISCUSSIONS: These findings show the importance of the correct management of cases, starting with clinical data and including a complete anamnesis to identify the risk factors for DVT. CONCLUSIONS: There is a significant correlation between the Wells score reflected in the probability of DVT and the Doppler ultrasonography findings.

[Hyperhomocysteinemia, risk factor in deep venous thrombosis: a case-control study]. / Hiperhomocisteinemia--factor de risc în trombozele venoase profunde. Un studiu de tip case-control.

UNLABELLED: Hyperhomocysteinemia, an established cardiovascular risk factor, has been recently associated with deep venous thrombosis. MATERIAL AND METHOD: A matched case-control study was designed to assess homocysteinemia as well as the acquired risk factors in deep venous thrombosis (DVT). We enrolled 227 subjects, 127 with DVT confirmed by Doppler ultrasonography and 100 controls. Homocysteinemia was measured using reverse-phase high pressure liquid chromatography. RESULTS: We found a significant association between hyperhomocysteinemia and DVT; the associated risk was weak (p = 0.025, OR: 1.7). Other risk factors significantly associated with DVT were: obesity (p = 0.04, OR for DVT: 2.9), varicose veins (p = 0.023, OR: 3.13), prolonged immobility (p = 0.015, OR: 3.1), history of DVT (p = 0.01, OR: 5.59). All these factors were found to be independent risk factors using multivariate logistic regression. CONCLUSION: hyperhomocysteinemia is an independent risk factor for DVT; the risk is not associated with the severity of hyperhomocysteinemia.

Genetic determination of irritable bowel syndrome.

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome III criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previous 3 mo associated with two or more of the following symptoms: improvement with defecation, onset associated with a change in the frequency of stool and/or onset associated with a change in form or appearance of stool. There is growing evidence regarding the genetic contribution in IBS, however the precise etiology of IBS is still unknown. The evaluation of the genetic influence is based on twin studies, familial aggregation and genetic epidemiological investigations. Most studies showed a concordance for IBS significantly greater in monozygotic than in dizygotic twins. The majority of the studies have shown that familial aggregation may represent exposures to a similar environment, as well as the influence of genetic factors. Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T>C), and high-producer tumor necrosis factor genotype. Further studies are necessary to determine how genetic factors influence the clinical manifestations and therapeutical response in IBS patients.

Mesenteric venous thrombosis with bowel infarction and hyperhomocysteinemia due to homozygous methylenetetrahydrofolate reductase C677T genotype.

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.

Hyperhomocysteinemia: clinical and therapeutical involvement in venous thrombosis.

Hyperhomocysteinemia, considered "the cholesterol of nineties", is an established risk factor for cardiovascular diseases and premature atherosclerosis. Hyperhomocysteinemia is due to genetic and acquired factors (unhealthy lifestyle with poor diet in folate and vitamin B, elderly, renal impairment, thyroid diseases, malignancies). More recently, hyperhomocysteinemia was associated with venous thrombosis. Several studies found a correlation with a usual site of thrombosis (central retinal vein, mesenterical level, cerebral veins, Budd-Chiari syndrome). Other studies showed the association between hyperhomocysteinemia and recurrent venous thrombosis. This condition is of high interest because homocysteine may represent a potentially reversible cause of thrombophilia. Although methylenetetrahydrofolate reductase (MTHFR) C677T genotype and deficits of folic acid, vitamin B12 lead to hyperhomocysteinemia, in cases with a thrombotic event the correlations between homocysteine level and folic acid as well as between homocysteinemia and vitamin B12 were found to be weak and no significant correlation between homocysteinemia and MTHFR was identified. Recently, some authors reported an independent association between low levels of folic acid or vitamin B12 and venous thrombosis. Regarding the MTHFR genotype, the risk for venous thrombosis is increased only in patients with factor V Leiden. A recent meta-analysis of 24 retrospective and 3 prospective studies published in electronic literature showed that a 5 micromol/L higher homocysteine level was associated with a 27% (95% CI: 1-59) higher risk of venous thrombosis in prospective studies and a 60% (95% CI: 10-134) higher risk in retrospective studies. A meta-analysis of the short-term trials of therapy with folic acid showed a reduction of 25% of homocysteinemia and a further reduction of 7% when vitamin B12 was associated. This situation may be associated with a 10% to 20% decreased risk of venous thrombosis. Further trials are required to estimate if this is worthwhile from the clinical point of view. In medical practice the measurement of homocysteinemia may be indicated in unexplained idiopathic venous thrombosis, or recurrent episodes or venous thrombosis occurred at an early age or at an uncommon site.