Thrombophilia

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)...

Staphylococcal scalded skin syndrome (SSSS) is a clinical term used for a spectrum of blistering skin conditions induced by the epidermolytic toxins of the Staphylococcus aureus bacteria. The complications of SSSS include thrombosis; however, the pathophysiology of this is still poorly understood. We present a case of free anterolateral thigh (ALT) flap failure in a patient as a result of widespread flap thrombosis associated with staphylococcal scalded skin syndrome (SSSS). This is the first reported case of free flap failure associated with SSSS...

KEY CLINICAL MESSAGE: Our case highlights the importance of recognizing acromegaly as a potential risk factor for venous thromboembolism (VTE). Despite a thorough thrombophilia workup yielding unremarkable results, further research is warranted to elucidate the underlying mechanisms linking acromegaly and thrombophilia. This understanding will aid in improving risk assessment and management strategies for patients with acromegaly. ABSTRACT: Acromegaly, a rare disorder characterized by excessive growth hormone secretion, is associated with various comorbidities including hypertension, diabetes mellitus, and obstructive sleep apnea...

BACKGROUND: May-Thurner syndrome (MTS) is an extrinsic venous compression by the arterial system against bony structures in the iliocaval territory. The most common variant of MTS is due to compression of the left iliac vein between the overlying right common iliac artery and the fifth lumbar vertebrae. The prevalence of MTS is unknown; therefore, there are only a few publications about MTS in kidney transplant recipients. Risk factors that may progress from usually asymptomatic to symptomatic MTS are female sex, scoliosis, dehydration, coagulation disorders, and radiation...

Although inherited thrombophilias are lifelong risk factors for a first thrombotic episode, progression to thrombosis is multifactorial and not all individuals with inherited thrombophilia develop thrombosis in their lifetimes. Consequently, indiscriminate screening in patients with idiopathic thrombosis is not recommended, since presence of a thrombophilia does not necessarily predict recurrence or influence management, and testing should be selective. It follows that a decision to undertake laboratory detection of thrombophilia should be aligned with a concerted effort to identify any significant abnormalities, because it will inform patient management...

Preeclampsia (PE) is a hypertensive disorder in pregnancy associated with significant fetal and maternal complications. Antiphospholipid syndrome (APS) is an acquired form of thrombophilia characterized by recurrent venous or arterial thrombosis and obstetric complications that significantly increases morbidity and mortality rates. While preeclampsia may not be the most prevalent obstetric complication in APS, it significantly impacts the long-term health of both mother and child. The treatment of preeclampsia in antiphospholipid syndrome is different from the treatment of preeclampsia as an independent disease...

OBJECTIVES: Cerebral venous thrombosis is an uncommon, yet life-threatening condition, affecting mainly young and middle-aged individuals. Moreover, it represents an underrecognised etiology of lobar intracerebral hemorrhage (ICH). The clinical course of CVT is variable in the first days after diagnosis and medical complications including pulmonary embolism (PE) may result in early neurological deterioration and death if left untreated. MATERIALS AND METHODS: Case report...

While adenomyosis is commonly associated with a mild risk of thrombotic complications, the presence of additional thrombophilia factors can increase this risk, particularly in individuals with severe symptoms and elevated CA125 levels.

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...

BACKGROUND: Preterm preeclampsia, a product of vascular dysfunction, is associated with prolonged hospital admission and proteinuria, significant risk factors for thromboembolism in pregnancy. The risk of thromboembolism in preterm preeclampsia warrants further investigation. OBJECTIVES: To determine the relationship between preterm preeclampsia and thromboembolic risk. We hypothesize that preterm preeclampsia is an independent risk factor for thromboembolism in pregnancy...

Recurrent pregnancy loss is a multi factorial and heterogeneous disorder defined as two or more consecutive pregnancy losses before 20 weeks' gestation. Gene polymorphisms including factor VII R353Q (rs6046), fibrinogen alpha chain A6534G (rs6050) and fibrinogen gamma chain C10034T (rs2066865) have potential role in thrombophilia and the relation between these three polymorphisms and an increased risk of venous thrombosis have been reported. As thrombophilia is associated with a considerable proportion of pregnancy loss and the association between these gene polymorphisms and recurrent pregnancy loss remains controversial, the aim of the present study was to evaluate the relation of these polymorphisms and recurrent pregnancy loss in Iranian women...

UNLABELLED: A single guanosine deletion/insertion (4G/5G) polymorphism in the promoter region of plasminogen activator inhibitor-1 ( PAI-1 ) gene encoding PAI-1 protein has been investigated in deep vein thrombosis (DVT) patients. The association between PAI-1 4G/5G polymorphism and increased risk of DVT has been reported in some studies, while others have reported a lack of association. The present study aimed to investigate if the PAI-1 4G/5G polymorphism is associated with an increased risk of DVT in the Indian population and to assess its association with thrombophilic risk factors...

INTRODUCTION: Men with advanced germ cell tumors (GCT) treated with chemotherapy are at high risk of venous thromboembolism (VTE). Predictors of VTE may identify patients who would benefit from prophylactic anticoagulation. PATIENTS AND METHODS: Men with advanced GCT (Stage IS, II, III) treated with chemotherapy were identified at 2 centers. High genomic risk was defined from a 5 single nucleotide polymorphism (SNP) germline panel. Logistic regression was used to evaluate the impact of genomic risk on VTE within 6 months of chemotherapy initiation...

BACKGROUND: Venous thromboembolism (VTE) etiology in children with acute lymphoblastic leukemia (ALL) is multifactorial. The use of global assays of hemostasis as thrombin generation test (TGT) is useful to individualize VTE risk in adult patients. The aim of this prospective cohort study was to evaluate the usefulness of an automated TGT to evaluate VTE risk during ALL treatment in children. METHODS: TGT (automated analyzer ST Genesia; ThromboScreen) and pro and anticoagulant plasma proteins were analyzed during ALL treatment in pediatric patients following LAL-SEHOP-PETHEMA-2013 guidelines...

INTRODUCTION: Cerebral venous thrombosis (CVT) is a thromboembolic disease of the intracranial venous systems. The disease can be difficult to diagnose as it often requires a high index of suspicion. Risk factors for the disease include pregnancy, oral contraceptive pills, congenital thrombophilia, infection, cancer, polycythemia, head trauma, and recent surgery. However, there have been no studies in the United States that have examined whether pregnancy and the postpartum stage are truly a risk factor for CVT...

UNLABELLED: One third of recent non-cirrhotic portal vein thrombosis are associated with local factors. The risk of rethrombosis after anticoagulation withdrawal is unknown. We aimed to determine factors associated with splanchnic or extrasplanchnic new thrombotic events in that setting. METHODS: Retrospective study including recent non-cirrhotic portal vein thrombosis associated with local factors. High and low prothrombotic risk factors, prespecified according to Riport study criteria, were assessed...

Patients diagnosed with lymphoma or multiple myeloma are at elevated risk of venous thromboembolism (VTE). Optimum risk stratification and effective thromboprophylaxis can only be achieved through the development of a multiple-specific risk score that successfully captures all aspects of the heterogeneous prothrombotic environment existing in these patients. Our aim was to identify risk factors for thrombosis and suggest an improved tool combining clinical data, thrombo-inflammatory biomarkers and genetic (Thrombo inCode® test) variables for predicting thrombotic risk in patients with lymphoma and multiple myeloma...

Inherited defects in the genes of blood coagulation essentially express the severity of the clinical phenotype that is directly correlated to the number of mutated alleles of the candidate leader gene (e.g., heterozygote vs. homozygote) and of possible additional coinherited traits. The F5 gene, which codes for coagulation factor V (FV), plays a two-faced role in the coagulation cascade, exhibiting both procoagulant and anticoagulant functions. Thus, defects in this gene can be predisposed to either bleeding or thrombosis...

Background and Objectives : This retrospective cohort study investigates the role of genetic thrombophilia in pregnant women experiencing early pregnancy loss compared to those with late pregnancy loss. Materials and Methods : Participants were categorized into early and late pregnancy loss groups based on gestational age. A total of 156 patients were included, out of which 103 had early-trimester pregnancy losses and 96 had multiple miscarriages. Results : The study revealed a synergistic effect of Factor V Leiden (FVL G1691A) and Methylenetetrahydrofolate Reductase (MTHFR C677T) mutations (coefficient 3...

BACKGROUND: Despite pregnancy's hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes. METHODS: in this single-center prospective study, 105 healthy pregnant women were included...