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.

BACKGROUND: In this case series, a perioperative anticoagulation protocol for microvascular head and neck surgery in patients with thrombophilia is presented. Microvascular free-flap surgery is a standard procedure in head and neck surgery with high success rates. Nevertheless, flap loss-which is most often caused by thrombosis-can occur and has far-reaching consequences, such as functional impairment, prolonged hospitalization, and increased costs. The risk of flap loss owing to thrombosis is significantly increased in patients with thrombophilia. Therefore, perioperative anticoagulation is mandatory. To date, no perioperative anticoagulation protocol exists for these high-risk patients.
METHODS: We present three exemplary male Caucasian patients aged 53-57 years with free flap loss owing to an underlying, hidden thrombophilia.
CONCLUSIONS: We present a modified anticoagulation protocol for microvascular surgery in these high-risk patients, enabling successful microsurgical reconstruction.

UNASSIGNED: To examine the perioperative impact of factor V Leiden mutation on thromboembolic events\' risk in radical prostatectomy (RP) patients. With an incidence of about 5%, factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in Asia. The increased risk of thromboembolic events is three- to seven-fold in heterozygous and to 80-fold in homozygous patients.
UNASSIGNED: Within our prospectively collected database, we analysed 33 006 prostate cancer patients treated with RP between December 2001 and December 2020. Of those, patients with factor V Leiden mutation were identified. All patients received individualised recommendation of haemostaseologists for perioperative anticoagulation. Thromboembolic complications (deep vein thrombosis and pulmonary embolism) were assessed during hospital stay, as well as according to patient reported outcomes within the first 3 months after RP.
UNASSIGNED: Overall, 85 (0.3%) patients with known factor V Leiden mutation were identified. Median age was 65 (interquartile range: 61-68) years. There was at least one thrombosis in 53 (62.4%) patients and 31 (36.5%) patients had at least one embolic event in their medical history before RP. Within all 85 patients with factor V Leiden mutation, we experienced no thromboembolic complications within the first 3 months after surgery.
UNASSIGNED: In our cohort of patients with factor V Leiden mutation, no thromboembolic events were observed after RP with an individualised perioperative coagulation management concept. This may reassure patients with this hereditary condition who are counselled for RP.

Thrombophilia in venous thromboembolism (VTE) is multifactorial. Von Willebrand factor (vWF) plays a major role in primary hemostasis. While elevated vWF levels are well documented in VTE, findings related to its cleaving protease (ADAMTS-13) are contradicting. The aim of this study was to determine vWF, ADAMTS-13, and the multifactorial Thrombospondin-1 (TSP-1) protein levels in patients after 3-6 months following an unprovoked VTE episode. We also explored a possible association with factor V Leiden (FVL) mutation. vWF, ADAMTS-13 and TSP-1 were analyzed using ELISA kits in 60 VTE patients and 60 controls. Patients had higher levels of vWF antigen (P = .021), vWF collagen-binding activity (P = .008), and TSP-1 protein (P < .001) compared to controls. ADAMTS-13 antigen was lower in patients (P = .046) compared to controls but ADAMTS-13 activity was comparable between the two groups (P = .172). TSP-1 showed positive correlation with vWF antigen (rho = 0.303, P = .021) and negative correlation with ADAMTS-13 activity (rho = -0.244, P = .033) and ADAMTS-13 activity/vWF antigen ratio (rho = -0.348, P = .007). A significant association was found between the presence of FVL mutation and VTE (odds ratio (OR): 9.672 (95% confidence interval (CI) 2.074-45.091- P = .004), but no association was found between the mutation and the studied proteins (P > .05). There appears to be an imbalance between vWF and ADAMTS-13 in VTE patients even after 3-6 months following the onset of VTE. We report that the odds of developing VTE in carriers of FVL mutation are 9.672 times those without the mutation, but the presence of this mutation is not associated with the studied proteins.

Background: Eales disease is a clinical syndrome affecting the mid-peripheral retina with an idiopathic occlusive vasculitis and possible subsequent retinal neovascularization. The disease can develop into visually threatening complications. Case Presentation: We report the case of a 40-year-old Caucasian male with a history of cocaine abuse who presented with blurred vision in the left eye (LE). Fundus examination showed vitreous hemorrhages, peripheral sheathing of venous blood vessels, areas of retinal neovascularization in the LE, and peripheral occlusive phlebitis in the right eye. The full serologic panel was negative except for the heterozygous mutation of factor V Leiden. Clinical and biochemical parameters suggested a diagnosis of Eales disease. Therapy with dexamethasone, 1 mg per kg per day, tapered down slowly over 4 months, and peripheral laser photocoagulation allowed a regression of clinical signs and symptoms. Conclusion: This case shows an uncommon presentation of Eales disease associated with cocaine abuse. Both cocaine abuse and a thrombophilic pattern, as cofactors, might have sensitized the retinal microcirculation on the pathogenetic route to this retinal pathology. Furthermore, in view of this hypothesis, a thorough ocular and general medical history investigating drug abuse and coagulation disorders is recommended for ophthalmologists in such cases.

BACKGROUND: Our purpose was to describe a patient who developed combined central retinal vein occlusion (CRVO), cilioretinal artery occlusion, branch retinal artery occlusion (BRAO), and anterior ischaemic optic neuropathy (AION) followed by CRVO in the second eye because of the heterozygous factor V Leiden (FVL) mutation.
METHODS: A 39-year-old female with a history of recurrent pregnancy losses presented with acute blurred vision in the right eye (RE), with visual acuity limited to counting fingers. She was diagnosed with combined impending CRVO, cilioretinal artery occlusion, BRAO, and AION. The results of thrombophilia testing, not including the FVL mutation, were negative. Retinal atrophy with vascular attenuation and optic disc pallor developed after resolution of acute retinal findings. Nine months after initial presentation, the patient developed an impending CRVO in the left eye (LE), with a secondary progression to a complete CRVO causing a decrease in best corrected visual acuity (BCVA) to 20/40. The patient was determined to be heterozygous for the FVL mutation. She subsequently was treated with acenocoumarol. At the last follow-up visit, the BCVA was 20/400 in the RE and 20/20 in the LE, and there was a complete resolution of the acute CRVO findings in the LE.
CONCLUSIONS: Our case shows that the heterozygous FVL mutation may manifest with combined retinal vascular occlusion involving multiple sites in both eyes. Early recognition of such an inherited thrombophilic disorder is important because it implies the need for long-term anticoagulative therapy to reduce the patient\'s risk of recurrent, sight-threatening and life-threatening thrombotic events.

Factor V Leiden (FVL) G1619A mutation and prothrombin gene (PTG) G20210A are the most common inherited thrombophilias. They have been associated with various obstetric complications such as venous thromboembolism, recurrent pregnancy loss, preeclampsia, abruptio placentae, and small for gestational age fetus. The prevalence of these two mutations is 3-15% in Caucasians and is assumed to be far less common in other ethnic populations. However, there have been several controversies regarding advising routine screening of these thrombophilias because of a widely variable strength of association between different ethnic groups, as well as contradictory conclusions by different studies in regards to the association. In this study, the literature was analyzed thoroughly for the effect of FVL G1619A and PTG G20210A mutations on various obstetric outcomes. A review of multiple case-control and prospective studies suggests that despite the availability of robust data on this subject the results remain inconclusive and insubstantial. Further superior quality research, preferably prospective studies, is warranted to conclusively establish this relationship and to enable practitioners to follow a definitive protocol in the screening of various populations for these mutations to achieve an improved pregnancy outcome.

BACKGROUND: Patients with an inherent hypercoagulable state are at a higher risk of venous thromboembolism (VTE) following total joint arthroplasty (TJA). Further administration of tranexamic acid (TXA) during TJA may increase the risk of VTE in these high-risk patients. There is no study that specifically analyzes the safety and efficacy of TXA during TJA in patients with factor V Leiden (FVL) mutation; therefore, the purpose of this study was to evaluate the safety and efficacy of TXA use on the risk of VTE and bleeding in patients carrying FVL mutation.
METHODS: A total of 42 patients with FVL mutation (22 hips, 20 knees) and 40 control patients (20 hips, 20 knees) who underwent TJA were retrospectively reviewed. All patients received 1 g TXA intravenously 15 min before the skin incision and 2 g of TXA was administered locally at the surgical site as a periarticular injection. Pharmacological thromboprophylaxis (low-molecular-weight heparin) was administered to all patients. Estimated blood loss and in-hospital thromboembolic complications were compared between the groups.
RESULTS: In both total knee arthroplasty (TKA) and total hip arthroplasty (THA) patients, there was no significant difference in the amount of estimated blood loss among the groups (p = 0.980, and p = 0963, respectively). None of the patients in the THA group received a blood transfusion. The transfusion rate was similar in the TKA group (p = 0.756, one patient in each group). No VTE, myocardial infarction, or any other complications related to TXA use were observed in any of the patients.
CONCLUSIONS: The combined local and systemic administration of TXA could be safely used in patients with heterozygous FVL mutation receiving pharmacological thromboprophylaxis during TJA without increasing the risk of VTE.

Thromboembolism remains a common complication of nephrotic syndrome (NS) in adults and a less common complication in children. Venous thrombosis is well recognized, but arterial thrombosis occurs less frequently and is seen primarily in children. We report a case of arterial thrombosis associated with factor V Leiden (FVL) mutation in a young girl with NS. Screening for inherited thrombophilias such as FVL mutation may be beneficial for NS patients with thromboembolic vascular events not explained by conventional risk factors.

UNASSIGNED: Thrombophilia is a term used to define the conditions creating a tendency toward thrombosis. Factor V Leiden (FVL) is the most frequently observed genetic risk factor, and its frequency varies among societies and ethnicities. In this study, our aim is to identify the frequency of FVL mutation in patients with thrombosis, the frequency of FVL mutation for each thrombosis disease, whether there is any difference in the geographical distribution of FVL mutation in the Turkish population, correlation with age and gender, and correlation with arterial and venous thrombosis.
UNASSIGNED: This is an observational case-control and retrospective study. Cases with the FVL mutation examination with clinical provisional diagnosis of arterial and/or venous thrombosis delivered and with the thrombosis proven by radiological visualization methods and laboratory examinations have been planned to be considered and assessed as cases with thrombosis.
UNASSIGNED: A total of 67 patients with thrombosis and 22 patients without thrombosis have been included within the study. Twenty-six of the cases with thrombosis were from the Black Sea region, 21 were from Eastern Anatolia, 12 were from Central Anatolia, 5 were from Marmara, and 3 were from Southeastern Anatolia. Eleven of the cases without thrombosis were from the Black Sea region, 1 was from Eastern Anatolia, 5 were from Central Anatolia, 2 were from Marmara, 1 was from Southeastern Anatolia, and 2 were from the Aegean region. The significance was resulted from the identification of thrombosis prevalence rate as significantly high in the Eastern Anatolian region.
UNASSIGNED: FVL mutation frequency is quite common in our country, and there are significant differences particularly in terms of regional distribution. Furthermore, FVL mutation is solely not the risk factor for thrombosis, and other coexisting genetic and acquired risk factors are substantial causes for the development of thrombosis.