Clinical characteristics and thrombophilia associated gene variants in Egyptians with unprovoked venous thromboembolism: three centers experience.

BACKGROUND: Thrombophilias are characterized by excessive venous and arterial thrombosis at regular or unusual sites. It may result from inherited, acquired, or a combination. Hereditary thrombophilia (HT) is detected in 30-40% of patients with thromboembolism. Venous/arterial thrombosis is considered a multifactorial disorder, some patients may have more than one risk factor which may be transient or permanent. OBJECTIVES: Assess the clinical characteristics of patients with unprovoked thromboembolic events and the role of inherited thrombophilia as a causative or additive risk factor. METHODS: 210 consecutive adult patients with unprovoked thromboembolic events were reviewed in hematology units at three tertiary Egyptian centers between September 2022 and September 2023. The diagnosis of thromboembolic events was confirmed by clinical and radiological findings. Laboratory screening for thrombophilia-associated. RESULTS: Among our patients, 53(25.2%) patients presented with isolated DVT, followed by portal vein thrombosis, 32(15.2%) had a pulmonary embolism, and sagittal sinus thrombosis was developed in 23(10.9%) patients. CONCLUSION: Younger people who experience spontaneous thromboembolism run the chance of having hereditary thrombophilia; the more mutations discovered, the higher the risk of thrombosis; the lower leg and deep vein thrombosis were the most common sites. Lastly, MTHFR C677T was the most common polymorphism in Egyptians, detected in almost half of the cases.

Management of Tubo-Ovarian Abscess in a Patient With Factor V Leiden Deficiency and High Body Mass Index (BMI).

This case report details the clinical course, diagnostic challenges, and management of a 53-year-old female patient with a history of factor V Leiden deficiency, hypertension, and high body mass index (BMI), presenting with an acute tubo-ovarian abscess (TOA). The patient's medical history also included penicillin allergy, premenopausal bleeding, and two previous cesarean sections, adding complexity to her management. Upon presentation, the patient exhibited symptoms of TOA, a severe complication of pelvic inflammatory disease (PID). Given her high BMI and surgical history, the risks associated with surgical intervention were significant. Consequently, a conservative approach with prolonged antibiotic therapy was chosen. The diagnosis was supported by initial and follow-up CT scans, which revealed multiple fluid collections indicative of infection but did not suggest a safe access route for percutaneous drainage. The patient's penicillin allergy required a careful selection of antibiotics to ensure efficacy and avoid adverse reactions. A multidisciplinary team comprising specialists from gynecology, microbiology, and radiology collaborated to devise and implement an effective treatment plan. This approach allowed for regular reassessment and adjustments to the therapeutic regimen. The patient received broad-spectrum antibiotics tailored to her specific needs, with the regimen prolonged due to the infection's severity and the high risk of surgical complications. The patient's inflammatory markers, including C-reactive protein (CRP) levels, were closely monitored, guiding treatment adjustments. Over time, significant clinical improvement was observed, with a gradual decrease in CRP levels and symptom resolution. This case underscores the importance of a tailored, patient-specific approach in managing complex TOA cases. It highlights the potential for conservative management with antibiotics in high-risk patients where surgical intervention poses significant risks. The successful outcome emphasizes the value of a multidisciplinary approach and individualized care in achieving favorable outcomes in TOA management.

A Rare Case of Left Ventricular Thrombus in a Normal Heart in a Patient With Factor V Leiden Disease.

Left ventricular thrombus (LVT) is mostly associated with anterior wall myocardial infarction and reduced ejection fraction. It can also be associated with cardiomyopathy, myocarditis, and hypercoagulable states such as cancer, antiphospholipid syndrome, and protein C or protein S deficiency. Factor V Leiden (FVL) disease is one of the hypercoagulable states where mutant factor V is insensitive to natural anticoagulation factor protein C, and FVL disease increases the risk of peripheral thromboembolism such as pulmonary embolism (PE) and deep vein thrombosis (DVT). We report a 60-year-old female patient with a history of heterozygous factor V Leiden and a remote history of deep vein thrombosis who presented with left-sided weakness and intermittent chest pain. Computed tomography (CT) of the brain ruled out stroke, electrocardiogram (EKG) showed sinus rhythm and some new T-wave inversion, and troponin was mildly elevated. Other laboratory results were unremarkable. A transthoracic echocardiogram showed a left ventricular mass with left ventricular outflow tract (LVOT) obstruction in systole with normal systolic and diastolic function and no wall motion abnormalities. Emergent surgery proved to be a thrombus. The learning objectives of our case are that a normal-sized and functional left ventricle does not preclude left ventricular thrombosis, long-term anticoagulation therapy in patients with factor V Leiden and a first episode of thromboembolism with additional risk factors may prevent further serious thromboembolic event, and timely diagnosis and treatment of cardiac thrombosis may reduce morbidity and mortality.

Impact of thrombophilia on venous thromboembolism management.

Hypercoagulable states, also called thrombophilia, can either be congenital or acquired. Congenital thrombophilia, associated mainly with venous thrombosis, is either secondary to coagulation-inhibitor deficiencies, i.e., antithrombin, protein C and Protein S, or gain of function mutations, i.e., factor V Leiden and prothrombin G20210A mutations. Despite the relative frequency of these two mutations, they have not been associated with venous thrombosis recurrence. Most prevalent thrombophilia have a limited impact and usually does not change indications for duration of antithrombotic treatment or prophylaxis compared to decisions based on clinical factors. However, rare inherited thrombophilia such as antithrombin deficiency could justify a long-term anticoagulation. The main acquired thrombophilia, the Antiphospholipid syndrome (APS), is associated with both arterial and venous thrombosis. Its impact on patient management is significant: choice of the anticoagulant (DOAC vs. warfarin), duration of anticoagulation, screening of any organ involvement and systemic autoimmune disease, introduction of immunosuppressive therapy.

Factor V Leiden Heterozygous: Complicated by Recurrent Venous Thromboembolism and Bilateral Pulmonary Embolism.

Factor V Leiden (FVL) is a hypercoagulable disorder that puts patients at increased risk of initial venous thromboembolism (VTE). However, those with heterozygote status are not usually susceptible to recurrent VTE. This is a case of a 35-year-old Caucasian male who presented to the emergency department with shortness of breath and chest pain. He had a past medical history of superficial thrombophlebitis and deep vein thrombosis (DVT) and was known to be FVL heterozygous. His home medications did not include anticoagulation medications at the time of presentation to the emergency department. The patient was diagnosed with bilateral pulmonary embolisms (PEs) secondary to a recurrent DVT. Initial treatment included a pulmonary thrombectomy and a lower extremity thrombectomy. Despite the patient being placed on heparin, there was a recurrence of the PE three days later, requiring a repeat pulmonary thrombectomy. This case of recurrent VTE in a heterozygous FVL patient is unusual and should lead to new considerations on the approach to lifelong anticoagulation in these patients.

Are all primary omental infarcts truly idiopathic? Five case reports.

BACKGROUND: Idiopathic omental infarction (IOI) is challenging to diagnose due to its low incidence and vague symptoms. Its differential diagnosis also poses difficulties because it can mimic many intra-abdominal organ pathologies. Although hypercoagulability and thrombosis are among the causes of omental infarction, venous thromboembolism scanning is rarely performed as an etiological investigation. CASE SUMMARY: The medical records of the 5 cases, who had the diagnosis of IOI by computed tomography, were examined. The majority of the patients were male (n = 4, 80%) and the mean age was 31 years (range: 21-38). The patients had no previous abdominal surgery or a history of any chronic disease. The main complaint of all patients was persistent abdominal pain. Omental infarction was detected in all patients with contrast-enhanced computed tomography. Conservative treatment was initially preferred in all patients, but it failed in 1 patient (20%). After discharge, all patients were referred to the hematology department for thrombophilia screening. Only 1 patient applied for thrombophilia screening and was homozygous for methylenetetrahydrofolate reductase (A1298C mutation) and heterozygous for a factor V Leiden mutation. CONCLUSION: IOI should be considered in the differential diagnosis in patients presenting with progressive and/or persistent right side abdominal pain. Investigating risk factors such as hypercoagulability in patients with IOI is also important in preventing future conditions related to venous thromboembolism.

A Rare Presentation of Ascites Secondary to Inferior Vena Cava Thrombosis in a Patient With Factor V Leiden Mutation.

We present the case of a 36-year-old female with Factor V Leiden mutation taking warfarin, who presented to the emergency department with swelling in the abdominal and bilateral lower extremities. Initial assessment revealed an international normalized ratio (INR) of 5.0. Abdomen/pelvis computed tomography (CT) and computed tomographic angiography (CTA) scans indicated chronic thrombosis of the inferior vena cava (IVC), leading to the development of ascites and swelling. Extensive investigations were conducted to explore potential contributing factors for the ascites and edema, all of which yielded negative results. Warfarin was discontinued, and unfractionated heparin was initiated once the INR decreased to 2.0. The patient underwent IVC angioplasty with stent placement, resulting in significant improvement of ascites and lower extremity swelling. Subsequently, heparin was transitioned to oral warfarin, and therapeutic INR levels were achieved before discharge. At the follow-up outpatient visit, the patient's ascites and lower extremity edema had completely resolved. This case highlights a rare instance of IVC involvement associated with Factor V Leiden mutation. Furthermore, the patient's history of noncompliance with medication, initial supratherapeutic INR, and chronic IVC thrombosis emphasize the importance of medication adherence and the crucial role of primary care in ensuring regular follow-up and monitoring.

Massive Pulmonary Embolism Associated With Factor V Leiden Mutation in a Young Female on Oral Contraceptive Pills: A Case Report.

Factor V Leiden (FVL) is the major genetic risk factor to predispose venous thromboembolism (VTE). We present a rare case of a 34-year-old Caucasian female heterozygous for this mutation and taking oral contraceptive pills (OCPs) for less than four months, who presented to the emergency department with acute onset of dyspnea and was diagnosed to have an isolated massive bilateral pulmonary embolism (PE). The patient was managed for six days in the hospital and was discharged on oral anticoagulants. The risk for VTE in patients with factor V Leiden and on oral contraceptive pills increases by 30-fold in heterozygous women and 100-fold in homozygous women. The risk of VTE in factor V Leiden seems to outweigh the benefit of contraception with oral contraceptive pills. This case suggests that thrombophilia screening should be considered only in patients with a positive first-degree family history of VTE, where necessary, to prevent any future thrombotic morbidity and mortality.

Prothrombin G20210A Mutation is Rare but not Absent Among North Indian Patients with Thromboembolic Events.

Traditionally considered to be absent in India, prothrombin gene G20210A (NM_000506.5(F2): c.*97G > A) mutation (PGM) has recently been reported in few Indian patients. We aimed to assess the prevalence of PGM in patients with thromboembolic events from north India region. The thrombophilia workup comprising Protein C, Protein S, Antithrombin functional activity, lupus anticoagulant and anti-ACA and anti-ß2GP1 antibodies were performed in coagulation analyzer (ACLTOP-500, Instrumentation Laboratory, USA) and automated chemiluminescent assay analyzer (ACUSTAR, IL) respectively. PCR-RFLP was used to perform PGM and FVL mutation. Out of 509 patients, DVT and CVT/CSVT were identified in 208 and 250 patients respectively. A total of 42 (8.2%) cases showed inherited thrombophilia and 11 (2.1%) acquired thrombophilia. Among the inherited defects, the most common was FVL mutation 31 (6%) The PGM was seen in only 2/509 (0.3%) patients. The prevalence of PGM in North Indian patients with DVT, stroke and CVT is 0.41% (2/509). Although PGM is rare in this population, its presence emphasizes its association with these conditions. However, the role of PGM testing remains debatable due to its scarcity among North Indians. Supplementary Information: The online version contains supplementary material available at 10.1007/s12288-024-01741-x.

Etiology and diagnostic approach of recurrent miscarriage at a reference center in Bucaramanga, Colombia.

OBJECTIVE: The purpose of this study was to determine the etiologies of recurrent miscarriage in our hospital and whether its diagnostic approach followed the recommendations of the American Society of Reproductive Medicine (ASRM) guidelines published in 2012 and the National Institute for Health and Care Excellence (NICE) guidelines published in 2011. METHODS: This was a retrospective study. The medical records of 158 patients diagnosed with recurrent miscarriage between 2013 and 2018 at Santander University Hospital were reviewed. The Institutional Review Board of HUS approved the study in May 2020. RESULTS: The most common etiologies identified were protein S deficiency, thrombophilia, and cervical insufficiency, with incidence rates of 25.9%, 10.7%, and 3.8%, respectively. Moreover, the most frequently requested diagnostic tests were for protein S, protein C, and anti-phospholipid IgG. Abnormal results for protein S were obtained in 49% of the patients, whereas lupus anticoagulant was abnormal in 12.8%, and Factor V Leiden gene mutations in 8.5% of the patients. Three substantial deviations from the recommended diagnostic approach for recurrent miscarriage by international guidelines were identified in our population: the lack of request for cytogenetic analysis of pregnancy tissue, request for cytogenetic analysis for the parents in only 0.6% of the study sample, and the request for imaging tests to assess uterine anatomy in only 6.3% of the studied population. Both the ASRM and NICE guidelines were only partially followed with a combined adherence rate of 66.5%. CONCLUSION: The diagnostic approach for recurrent miscarriage poses important clinical challenges when compared to the recommendations of international guidelines. Therefore, the development of a local recurrent miscarriage assessment protocol is proposed in our institution.

A Case of Thoracic Aortic Mural Thrombus and Multiple Hypercoagulable Etiologies.

Thoracic aortic mural thrombi (TAMT) are rare yet a significant cause of emboli and mortality. Hypercoagulability is thought to play a role in pathogenesis. A common association is prothrombin G20210A mutation. We present a case of an 87-year-old man with an incidentally found TAMT in the setting of prothrombin mutation, metastatic prostate cancer, and a myeloproliferative disorder. The patient had several causes activating Virchow's hypercoagulability principle, contributing to a centrally located clot. Because of its paucity in the literature, we advocate for further research concerning treatment modalities of TAMTs as well as an additional and timely workup for hypercoagulable states to prevent further calamity.

Total Hip Arthroplasty in Patients Who Have Factor V Leiden: Elevated Risks Isolated to Venous Thromboembolism Events.

BACKGROUND: Total hip arthroplasty (THA) is a common procedure that requires consideration of preexisting comorbidities. Factor V Leiden (FVL), an inherited thrombophilia, is one such condition that predisposes patients to venous thromboembolism (VTE, deep vein thrombosis, and pulmonary embolism). The present study aimed to characterize the risks associated with FVL patients undergoing THA and evaluate the effect of VTE chemoprophylactic agents on these risks. METHODS: A total of 544,022 adult patients who underwent primary THA for osteoarthritis indications between 2010 and October 2021 were identified in an administrative claims database. Of these, FVL was identified in 1,138 (0.21%). Patients who had and did not have FVL were matched at a 1:4 ratio (1,131 with FVL and 4,519 without FVL) based on age, sex, and Elixhauser comorbidity index. Univariable and multivariable analyses were assessed for 90-day complications. Implant survival at 5 years was assessed and compared with log-rank tests. The relative use of different chemoprophylactic agents, including aspirin, warfarin, heparin, or direct oral anticoagulant (DOAC), was assessed. Bleeding events and VTE were compared for those prescribed either aspirin or warfarin, heparin, or DOAC. A Bonferroni correction was applied. RESULTS: On multivariable analysis, FVL patients were found to have increased odds of 90-day deep vein thrombosis (odds ratio (OR) = 9.20), pulmonary embolism (OR = 6.89), and aggregated severe and all adverse events (OR = 4.74 and 1.98, respectively), but not elevated risk of other perioperative adverse events or 5-year reoperations. More potent chemoprophylactic agents (warfarin, heparin, DOAC) reduced, but did not completely eliminate, the increased VTE risks (without increasing bleeding events). CONCLUSIONS: This study quantified the significantly elevated VTE risk associated with FVL patients undergoing THA. The lack of difference in other specific adverse events and 5-year reoperations is reassuring. Clearly, chemoprophylactic agents are important in this population and may need further attention.

Lower Limb Deep Venous Thrombosis After Posterior Spinal Fusion as an Initial Manifestation of Factor V Leiden Mutation in a Pediatric Patient: A Case Report.

Deep venous thrombosis (DVT) is a serious condition in which a blood clot forms in a deep vein, usually of the lower extremity. In pediatric orthopedic surgery, the incidence of thrombotic events is rare. This is a case presentation of a 12-year-old female patient without previous events or a family history of thrombotic events who underwent a posterior spinal fusion due to severe adolescent idiopathic scoliosis. The patient developed a DVT due to an underlying Factor V Leiden mutation. The purpose of this case report is to create awareness, facilitate the diagnosis and management, and aid in future interventions and clinical outcomes.

The Etiology of the Thrombotic Phenomena Involved in the Process of Coronary Artery Disease-What Is the Role of Thrombophilic Genes in the Development of This Pathology?

Cardiovascular diseases, among which includes coronary artery disease, represent one of the most important causes of mortality and morbidity worldwide. Research aimed at determining the risk factors involved recognizes a group of "traditional" risk factors, but also more recent studies identified over 100 "novel" ones which may have a role in the disease. Among the latter is the thrombophilia profile of a patient, a pathology well-established for its involvement in venous thromboembolism, but with less studied implications in arterial thrombosis. This paper reviews the literature, explaining the pathophysiology of the thrombophilia causes associated most with coronary thrombosis events. Results of several studies on the subject, including a meta-analysis with over 60,000 subjects, determined the significant involvement of factor V Leiden, prothrombin G20210A mutation, plasminogen activator inhibitor-1 and antiphospholipid syndrome in the development of coronary artery disease. The mechanisms involved are currently at different stages of research, with some already established and used as therapeutic targets.

Triple whammy in a patient with portal vein thrombosis.

Infection with SARS-CoV-2 has been shown to predispose to thromboembolic events. The risk of such thromboses further increases in those with underlying inherited or acquired prothrombotic states. The authors present a 30-year-old lady who developed acute abdominal pain, three days after recovery from a mild COVID-19 infection. She was also using oral contraceptive pills. Laboratory investigations revealed elevated inflammatory markers, and a contrast-enhanced abdominal CT scan demonstrated portal vein thrombosis (PVT). Due to the unusual site of thrombosis, a thrombophilia screen was performed, which detected a heterozygous Factor V Leiden mutation (FVL). Thus, her PVT was attributed three simultaneous risk factors, namely COVID-19 infection, OCP use and FVL mutation. She was initiated on anti-coagulation, with which she improved significantly. In patients presenting with thromboses at uncommon sites, investigation for evidence of recent Covid-19 infection and screening for inherited and acquired thrombophilia should be considered, while discontinuing any offending medications.

Paternal thrombophilia and recurrent implantation failure: an exploratory case-control study.

OBJECTIVE: Many pieces of literature have reported that inherited and acquired thrombophilia might be a risk factor for recurrent implantation failure (RIF), however, most studies have only focused on RIF patients and not their male partners. We studied the possible association of paternal thrombophilia with RIF risk. METHODS: Forty-two male partners aged 20-45 suffered from RIF compared with 42 males from couples with at least one successful pregnancy. All participants were investigated for thrombophilia markers. RESULTS: The prevalence of coagulation Factor V activity was significantly higher in the case group (42.9%) than in the control group (16.7%) (p=0.008) (OR=3.75; 95% CI, 1.38, 10.12). The prevalence of protein C and protein S deficiencies in RIF patients were 4.8% and 2.4%, respectively, and 0% in the controls. The prevalence of antithrombin III (ATIII) deficiency was significantly higher in the case group (19%) than in the control group (2.4%) (p=0.01). None of MTHFR C677T and MTHFR A1298C were statistically significant between the two groups. Combined thrombophilia was 45.2% in the men of the RIF group when compared with the control, 14.2% (p=0.001) (OR = 4.95; 95% CI, 1.75-13.86). CONCLUSIONS: Paternal thrombophilia may be related to recurrent implantation failure, so evaluation of this factor in RIF patients could be used to identify relevant risk groups and may help in the proper management of these cases to enhance the chance of implantation.

Trastornos de la coagulación: factor V Leiden, panorama biológico, clínico y epidemiológico / Coagulation Disorders: Factor V Leiden, Biological, Clinical, and Epidemiological Overview

Resumen El sistema de coagulación mantiene la sangre en estado fluido en todo momento y, por tanto, está incesantemente activa durante toda la vida. Sin embargo, en el momento en que ocurre una lesión del sistema vascular, el sistema de coagulación inmediatamente gira 180° y transforma la sangre en un cuerpo sólido perfectamente localizado, al que llamamos coágulo. Este proceso, mediante el cual se forma un coágulo, se conoce como hemostasia, que es uno de los componentes del sistema de coagulación. La importancia de la mutación Leiden del factor V se basa en lo siguiente: el factor V de la coagulación es una proteína que se sintetiza en el hígado y el gen que lo codifica está situado en la región 23 del brazo largo del cromosoma 1, este factor circula en sangre periférica de manera inactiva hasta que interactúa con el factor X activado, formando un complejo que convierte al factor II (protrombina) en trombina, que va a tener su acción sobre el fibrinógeno convirtiéndolo en fibrina. La regulación del factor V activado se da por la actividad de la proteína C activada, cuando el factor V tiene una mutación (nombrada Leiden) que es ocasionada por el cambio de una adenina por una guanina en el nucleótido 1691 del factor V (G1691A), que causa que se sustituya una arginina por una glutamina en el residuo 506 de la proteína factor V; la proteína resultante es un factor V anómalo, mismo que no puede inactivarse por la proteína C activada, por lo que el factor V continúa activado y no puede impedir que el proceso de coagulación se detenga. En nuestro país (considerando varias afecciones) se ha descrito en diversas publicaciones de investigadores mexicanos que las mutaciones Leiden del factor V y la G20210A de la protrombina no son frecuentes, como lo son en los países europeos.

Abstract The coagulation system always keeps the blood in a fluid state and is therefore incessantly active throughout life. However, the moment an injury to the vascular system occurs, the coagulation system immediately rotates 180° and transforms the blood into a perfectly localized solid body, which we call a clot. This process, by which a clot forms, is known as hemostasis, which is one of the components of the coagulation system. The importance of the Leiden mutation of factor V is based on the following: coagulation factor V is a protein that is synthesized in the liver and the gene that encodes it is located in region 23 of the long arm of chromosome 1, this factor circulates in peripheral blood inactively until it interacts with activated factor X forming a complex that converts factor II (prothrombin) into thrombin, which will have its action on fibrinogen turning it into fibrin. The regulation of activated factor V is given by the activity of activated protein C, when factor V has a mutation (named Leiden) that is caused by the exchange of an adenine for a guanine in the nucleotide 1691 of factor V (G1691A), which causes arginine to be replaced by a glutamine in the 506 residue of the factor V protein, the resulting protein is an abnormal factor V, which cannot be inactivated by activated protein C, so factor V remains activated and cannot prevent the clotting process from stopping. In our country (considering several conditions) it has been described in various publications of Mexican researchers that Leiden mutations of factor V and G20210A of prothrombin are not frequent, as they are in European countries.

Total shoulder arthroplasty in patients with factor V Leiden.

BACKGROUND: Anatomic and reverse total shoulder arthroplasty (TSA) are effective treatment options for end-stage glenohumeral osteoarthritis. However, consideration for pre-existing conditions must be taken into account. Factor V Leiden (FVL), the most common inherited thrombophilia, is one such condition that predisposes to a prothrombotic state and may affect perioperative and longer-term outcomes following TSA. METHODS: Adult patients undergoing primary TSA for osteoarthritis indication were identified in the 2010 through October 2021 PearlDiver M157 database. Patients with or without FVL were matched at a 1:4 ratio based on age, sex, and Elixhauser Comorbidity Index. Ninety-day adverse events and 5-year revision rates were assessed and compared with multivariable logistic regression and rank-log tests, respectively. Finally, the relative use and bleeding/clotting outcomes were assessed based on venous thromboembolic (VTE) prophylactic agents used, with categories defined as (1) warfarin, heparin, or direct oral anticoagulant (DOAC) or (2) aspirin/no prescription found. RESULTS: Of 104,258 TSA patients, FVL was identified for 283 (0.27%). Based on matching, 1081 patients without FVL and 272 patients with FVL were selected. Multivariable analyses demonstrated that those with FVL displayed independently greater odds ratios (ORs) of deep vein thrombosis (DVT, OR = 9.50, P < .0001), pulmonary embolism (PE, OR = 10.10, P < .0001), and pneumonia (OR = 2.43, P = .0019). Further, these events contributed to the increased odds of aggregated minor (OR = 1.95, P = .0001), serious (OR = 6.38, P < .0001), and all (OR = 3.51, P < .0001) adverse events. All other individual 90-day adverse events, as well as 5-year revision rates, were not different between the study groups. When compared to matched patients without FVL on the same anticoagulant agents, FVL patients on warfarin, heparin, or DOAC agents demonstrated lesser odds of 90-day DVT and PE (OR = 4.25, P < .0001, and OR = 2.54, P = .0065) than those on aspirin/no prescription found (OR = 7.64 and OR = 21.95, P < .0001 for both). Interestingly, those on VTE prophylactic agents were not at greater odds of bleeding complications (hematoma or transfusion). DISCUSSION AND CONCLUSIONS: TSA patients with FVL present a difficult challenge to shoulder reconstruction surgeons. The current study highlights the strong risk of VTE that was reduced but still significantly elevated for those with stronger classes of VTE chemoprophylaxis. Acknowledging this risk is important for surgical planning and patient counseling, but also noted was the reassurance of similar 5-year revision rates for those with vs. without FVL.

Factor V Leiden, MTHFR, and FXIIIVal34Leu gene polymorphisms and their association with clinical features and risk of diabetic retinopathy in patients with type 2 diabetes.

Background: Diabetic retinopathy (DR) is expanding to epidemic levels globally due to the progressing prevalence of diabetes mellitus (DM). In this study, the association between factor V Leiden (FVL), MTHFRC677T, and FXIIIVal34Leu polymorphisms and diabetic retinopathy was investigated in Eastern Iran. Methods: This case-control study enlisted the participation of 300 people (diabetic patients=100, diabetic retinopathy patients=100, healthy controls=100), and polymorphisms were examined by Tetra primer ARMS-PCR. Results: The frequency of FVL (p=0.294) and FXIIIVal34Leu (P=0.349) polymorphism showed no significant results between the genotype frequency in the mentioned groups. In contrast, MTHFRC677T SNP was significantly different in diabetic patients and controls (P=0.008). The MTHFRC677T polymorphism was found to be connected with increased systolic blood pressure in patients who had the TT genotype (130.96±11.92mm/Hg; P=0.011). Conclusion: Our study recommended that the MTHFRC677T polymorphism may offer to DR development. Studies with larger sample sizes and a wider spectrum of populations are authorized to verify this finding.

The Contribution of Inherited Thrombophilia to Venous Thromboembolism in Cancer Patients.

Although the relationship between venous thromboembolism (VTE) and cancer has been a subject of study, knowledge of the contribution of thrombophilia to thrombosis in patients with cancer is still very limited. The aim of this article is to collect present knowledge on the contribution of inherited thrombophilia to VTE in cancer patients. We performed a search in Google Scholar and PubMed and selected 21 from 76 returned articles. Then we made a narrative review of the selected articles. We describe 11 studies on the contribution of inherited thrombophilia to VTE in cancer patients in general and 10 on that contribution in specific types of cancer: 1 in colorectal cancer, 4 in breast cancer, 1 in gynecologic cancer and 4 in hematopoietic malignancies. All studies investigate the relation of factor V Leiden (FVL) to VTE, 13 that of the prothrombin G20210A mutation (PTG20210A) and 7 studies also investigate other inherited thrombophilias, such methylenetetrahydrofolate reductase gene mutations, although only 2 investigate the contribution of deficiencies of the natural anticoagulants. Studies are very heterogeneous, in design and sample size and conclusions differ considerably. There is no consensus on the contribution of inherited thrombophilia to VTE in cancer patients except for acute lymphoblastic leukemia in children. Probably, that contribution is not the same for all types of cancer and more studies are needed to bring more knowledge on this subject.