Factor V HR2 haplotype: a risk factor for venous thromboembolism in individuals with absence of Factor V Leiden.

Venous thromboembolism (VTE), including deep venous thrombosis (DVT) and pulmonary embolism (PE), occurs secondary to a number of hereditary and acquired disorders of hemostasis. A recently recognized polymorphism in Factor V (FV) gene H1299R (also named HR2) has been reported to be a possible risk factor for the development of VTE. The aim of this study is to evaluate the role of HR2 polymorphism in VTE in a group of Lebanese patients. Seventy-three VTE patients and 125 healthy subjects were examined for HR2. The average ages for the patients and controls were 45.0+/-19.1 years and 35.4+/-18.6 years, respectively. Sixty patients (82.2%) had DVT, eight patients (11%) had PE, and five patients (6.8%) had both. There was significant association between FV Leiden and VTE (p<0.001). HR2 haplotype had a prevalence of 16.4% in patients. VTE patients with normal FV were 2.7 times more likely to have the HR2 haplotype as compared to controls with normal FV (p=0.036, 95% CI=1.04-7.06). We conclude that the FV HR2 haplotype significantly affects the risk of VTE in subjects with normal FV. This finding entails that screening for the HR2 haplotype should be done in VTE patients with normal FV Leiden results.

Thrombophilic risk factors among 16 Lebanese patients with cerebral venous and sinus thrombosis.

Cerebral venous and sinus thrombosis (CVST) is a multifaceted disorder. The frequency of inherited and acquired thrombophilia among 16 CVST patients was evaluated. The mean age of the patients was 22.9 years. Five out of the 16 CVST patients (31.2%) showed the G1691A mutation of factor V. The frequency of the C677T methylenetetrahydrofolate reductase (MTHFR) genotype was 50% (8/16) in patients (2 of them were homozygous). Four of the patients (25%) had both factor V Leiden and MTHFR mutation. Three of the patients had positive antiphospholipid antibodies. At the time of CVST, 2 female patients were taking oral contraceptive pills. Four patients were known to have malignancies. Despite the limitation of the sample size, we identified an inherited coagulopathy at high rate in our patients. Combined inherited thrombophilia was also present in 25% of patients. This finding supports the impression of a multifactorial process leading to CVST in Lebanese patients.

Thalidomide and thrombosis. A meta-analysis.

With the increase in the number of reports and trials on the use of thalidomide as a part of the treatment of different medical conditions, particularly multiple myeloma (MM), it was observed that this drug might be associated with an increase in the risk of venous thromboembolic (VTE) events. It was the objective of this study to assess this risk, to check whether it might be affected by the concomitant administration of other medications, specifically dexamethasone, and to study the effect of anticoagulation and anti-platelet medications. A literature search for articles describing the use of thalidomide and the resultant VTE events was performed, and 50 articles were reviewed. A sample consisting of 3,322 patients resembling the above-mentioned studies was designed, and multivariate logistic regression was conducted. While thalidomide, dexamethasone and their combination were found to significantly increase the risk of VTE events among MM patients by 2.6, 2.8 and eight times, respectively, "adequate" anticoagulation significantly reduced the risk. In conclusion, patients receiving thalidomide should be carefully monitored for thromboembolic events, and those receiving concomitantly dexamethasone or other chemotherapy should be followed even more closely. Administering prophylactic doses of low-molecular-weight heparin or warfarin with therapeutic International Normalized Ratio reduces the risk of thromboembolic events among MM patients.

Ocular findings among thalassemia patients.

PURPOSE: The study aims at studying the ophthalmologic status in a group of thalassemia patients. DESIGN: A cross-sectional study. METHODS: Eighty-four thalassemia patients were randomly selected and underwent an ophthalmologic examination. RESULTS: Visual acuity (VA) was affected in 13 patients and retinal pigment epithelial changes were detected in 21 patients. Decrease in VA was found to be significantly associated with type of thalassemia (P < .05) and having splenectomy (P = .05). Retinal pigment epithelium changes, conversely, were significantly associated with type of iron chelation. CONCLUSIONS: The occurrence of ophthalmologic problems in Lebanese thalassemic patients is common. These patients, especially those with severe anemia, should be screened for such complications. However, the results were not conclusive on whether these complications are attributable to the anemia, the iron overload, or a side effect of the iron chelating agents.

Intravenous zoledronic acid treatment in thalassemia-induced osteoporosis: results of a phase II clinical trial.

Osteoporosis is an important cause of morbidity in beta-thalassemia patients. Bisphosphonates have been recently used for the treatment of osteoporosis in beta-thalassemia. This study is a prospective quasi-experimental study to assess the efficacy and safety of zoledronic acid in thalassemics with osteoporosis. Eighteen thalassemia patients with osteoporosis were given zoledronic acid 4 mg intravenously every 3 months over a period of 12 months. The efficacy of treatment was assessed by measuring (BMD) at the lumbar spine, femoral neck, and hip at baseline, 6, and 12 months. Z-score was used to measure the BMD. Other medical assessments included markers of bone formation and resorption (bone alkaline phosphatase (BAP), osteocalcin (OC), and urinary deoxypyridinoline), and the assessment of pain score, analgesic score, and performance score. Ten thalassemic osteoporotic patients were followed up only with serial BMDs as controls. Both groups had no significant difference with respect to age, gender, and baseline BMD. Patients taking zoledronic acid had a significant increase in their lumbar spine, femoral neck, trochanter, and total hip BMD measurements over the 12-month period. Patients in the control group did not have any significant change in BMD measurements. There was a significant change in the levels of OC and BAP over the 12-month follow-up period. There was also a significant decrease in the number of painful sites experienced by the patients. Treatment of thalassemic osteoporotic patients with zoledronic acid is very effective in increasing BMD at the lumbar spine and hip and in reducing pain; it is also well-tolerated.