ABSTRACT
La esclerosis tuberosa es un síndrome genético infrecuente caracterizado por la mutación patogénica de los genes TSC1 o TSC2, que condiciona la activación descontrolada de la vía mTOR y la aparición subsecuente de hamartomas. Presenta una expresión clínica muy variable, siendo el diagnóstico genético y clínico. Puede producir afectación neurológica, dermatológica, dental, cardiaca, renal, ocular, pulmonar o a otros niveles. Se trata de una patología probablemente infradiagnosticada, en la que el diagnóstico precoz es fundamental para el tratamiento precoz de las complicaciones, mejorando así el pronóstico de la enfermedad. En este documento se revisan las principales manifestaciones que puede producir esta patología, así como los criterios diagnósticos actualizados y las recomendaciones de estudio al diagnóstico y durante el seguimiento de esta patología. (AU)
Tuberous sclerosis is a rare genetic syndrome characterized by the pathogenic mutation of the TSC1 or TSC genes, thus inducing an uncontrolled overactivation of the mTOR pathway and subsequent hamartoma formation. Clinical manifestations include neurological, dermatological, dental, cardiac, renal, ophthalmologic and pulmonary, although it can affect other systems. A timely diagnosis is essential to promptly institute proper management measures and treat complications, thus improving the patients prognosis. In this manuscript, authors review the main clinical manifestations, current diagnostic criteria and present-day recommendations on diagnosis and follow-up in these patients. (AU)
Subject(s)
Humans , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/pathology , Tuberous Sclerosis/complications , AngiofibromaABSTRACT
La trombosis venosa mesentérica (TVM) es una entidad poco frecuente que puede presentarse de manera aguda, subaguda o crónica. Puede ocurrir de forma aislada o en el seno de una trombosis esplácnica (espleno-porto-mesentérica). Los casos sintomáticos suelen presentarse como dolor abdominal inespecífico, con o sin datos de sufrimiento intestinal, y el diagnóstico se realiza habitualmente mediante una prueba de imagen (TC abdominal o RMN) en pacientes con una alta sospecha clínica. Se recomienda un enfoque clínico-quirúrgico precoz para cribar aquellos pacientes con datos de alarma y que se beneficien de una laparotomía exploradora añadida al tratamiento anticoagulante, que es la piedra angular del tratamiento médico. La TVM suele asociar estados protrombóticos, siendo de especial interés clínico los trastornos hematológicos (síndromes mieloproliferativos y mutaciones del gen JAK2). Por otro lado, la tasa de supervivencia a los 5 años es del 70-82%, y la mortalidad global precoz puede llegar hasta el 20-32% (AU)
Mesenteric vein thrombosis (MVT) is a rare condition that can present acutely, subacutely, or chronically. MVT can be isolated or within a splanchnic thrombosis (spleno-porto-mesenteric). Symptomatic cases usually present as nonspecific abdominal pain, with or without signs of intestinal ischemia, and the diagnosis is usually made by imaging test (abdominal CT or MRI) in patients with high clinical suspicion. An early clinical-surgical approach is recommended to screen those patients with warning signs and who benefit from an exploratory laparotomy in addition to anticoagulant treatment, which is the cornerstone of medical treatment. MVT is usually associated with prothrombotic states, with hematological disorders (myeloproliferative syndromes and/or JAK2 gene mutations) being of special clinical relevance. On the other hand, the 5-year survival rate is 70-82% and early overall 30-day mortality from MVT can reach 20-32% (AU)
Subject(s)
Venous Thrombosis/diagnosis , Venous Thrombosis/therapy , Mesenteric Veins , Thrombophilia , Ischemia , AnticoagulantsABSTRACT
Mesenteric vein thrombosis (MVT) is a rare condition that can present acutely, subacutely, or chronically. MVT can be isolated or within a splanchnic thrombosis (spleno-porto-mesenteric). Symptomatic cases usually present as nonspecific abdominal pain, with or without signs of intestinal ischemia, and the diagnosis is usually made by imaging test (abdominal CT or MRI) in patients with high clinical suspicion. An early clinical-surgical approach is recommended to screen those patients with warning signs and who benefit from an exploratory laparotomy in addition to anticoagulant treatment, which is the cornerstone of medical treatment. MVT is usually associated with prothrombotic states, with hematological disorders (myeloproliferative syndromes and/or JAK2 gene mutations) being of special clinical relevance. On the other hand, the 5-year survival rate is 70-82% and early overall 30-day mortality from MVT can reach 20-32%.
Subject(s)
Mesenteric Ischemia , Thrombosis , Venous Thrombosis , Humans , Venous Thrombosis/diagnosis , Venous Thrombosis/etiology , Venous Thrombosis/therapy , Mesenteric Ischemia/diagnosis , Mesenteric Ischemia/etiology , Mesenteric Ischemia/therapy , Anticoagulants/therapeutic use , Thrombosis/drug therapy , Abdominal PainABSTRACT
This manuscript reviews the epidemiology, symptoms, diagnosticmethods and management of benign venous portal thrombosis in bothcirrhotic and non-cirrhotic patients.Annual incidence of portal thrombosis ranges from barely 0.7 per100.000 inhabitants/year in non-cirrhotic patients to 10-15% in patients with advanced liver cirrhosis. Up to 60% of all non-cirrhoticpatients with portal thrombosis show systemic etiologic factors. Clinical manifestations depend on the thrombus development processand its extension, with most symptoms occurring in acute thrombosis.Anticoagulation is the chosen treatment in most cases, although individualization is paramount. Broadening available evidence is essential to improve managementfor these patients, especially given the wide heterogeneity of the population with venous portal thrombosis. (AU)
En este manuscrito se revisan la epidemiología, clínica, los métodosdiagnósticos y el tratamiento de la trombosis venosa portal benigna enpacientes cirróticos y no cirróticos.Se estima que la incidencia anual de trombosis portal en pacientescon cirrosis avanzada es del 10-15%, mientras que en pacientes nocirróticos se sitúa en apenas 0.7 por 100.000 habitantes/año, presentando hasta un 60% factores etiológicos sistémicos. Las manifestaciones clínicas dependen del momento evolutivo en el que seencuentre la trombosis (aguda frente a crónica) y de la extensión deltrombo. La anticoagulación es el tratamiento de elección en la mayoríade casos, si bien es necesario individualizar en cada paciente.Es necesario ampliar la evidencia disponible para optimizar el manejode estos pacientes, especialmente dada la heterogeneidad de la población con trombosis venosa portal. (AU)
Subject(s)
Humans , Venous Thrombosis/diagnosis , Venous Thrombosis/drug therapy , Venous Thrombosis/epidemiology , FibrosisABSTRACT
INTRODUCTION: Hospitalized patients with COVID-19 are at increased risk for venous thromboembolism (VTE), but also for bleeding. We previously derived a prognostic score including four variables (elevated D-dimer, elevated ferritin, critical illness, and therapeutic-dose anticoagulation) that identified those at increased risk for major bleeding. METHODS: We aimed to validate the score in a subsequent cohort of hospitalized patients with COVID-19 receiving standard-, intermediate- or therapeutic doses of VTE prophylaxis. We evaluated its capacity to predict major bleeding, non-major bleeding, and bleeding-related death. RESULTS: The cohort included 972 patients from 29 hospitals, of whom 280 (29%) received standard-; 412 (42%) intermediate-, 157 (16%) therapeutic doses of VTE prophylaxis and 123 (13%) other drugs. Median duration of prophylaxis was 14.7 ± 10.3 days. Major bleeding occurred in 65 patients (6.7%) and non-major bleeding in 67 (6.9%). Thirty patients with major bleeding (46%) died within the first 30 days after bleeding. The prognostic score identified 203 patients (21%) at very low risk, 285 (29%) at low risk, 263 (27%) intermediate-risk and 221 (23%) at high risk for bleeding. Major bleeding occurred in 1.0%, 2.1%, 8.7% and 15.4% of the patients, respectively. Non-major bleeding occurred in 0.5%, 3.5%, 9.5% and 14.2%, respectively. The c-statistics was: 0.74 (95% confidence intervals [CI]: 0.68-0.79) for major bleeding, 0.73 (95% CI: 0.67-0.78) for non-major bleeding and 0.82 (95% CI: 0.76-0.87) for bleeding-related death. CONCLUSIONS: In hospitalized patients with COVID-19, we validated that a prognostic score including 4 easily available items may identify those at increased risk for bleeding.
Subject(s)
Anticoagulants/therapeutic use , COVID-19/complications , Ferritins/blood , Fibrin Fibrinogen Degradation Products/analysis , Hemorrhage/etiology , Cohort Studies , Critical Illness , Female , Hemorrhage/epidemiology , Hospitalization , Humans , Male , Prognosis , Risk Factors , Venous Thromboembolism/complications , Venous Thromboembolism/prevention & controlABSTRACT
The relationship between inflammation and venous thrombosis is not well understood. An inflammatory response may be both the cause and consequence of venous thromboembolism (VTE). In fact, several risk factors of VTE modulate thrombosis through inflammatory markers. Acute pulmonary embolism (PE) is burdened by a remarkable mortality rate, up to 34% in severely ill patients presenting with hemodynamic instability. Initial mortality risk stratification is based on hemodynamic instability. Patients with a situation of hemodynamic stability require immediate further risk assessment based on clinical, imaging, and circulating biomarkers, as well as the presence of comorbidities. Some inflammatory biomarkers have shown potential usefulness in the risk stratification of patients with VTE, especially acute PE. C-reactive protein on admission is associated with 30-day mortality and bleeding in VTE patients. P-selectin is associated with right ventricle dysfunction in PE patients and might be associated with VTE recurrences and the extension of thrombosis. Tissue factor microparticles are associated with VTE recurrence in cancer-associated thrombosis. Other inflammatory biomarkers present scarce evidence (inflammatory cytokines, erythrocyte sedimentation rate, fibrinogen, leukocyte count). In this manuscript, we will review the prognostic role of different inflammatory biomarkers available both for clinical practice and research in VTE patients.
Subject(s)
Inflammation Mediators/blood , Pulmonary Embolism , Venous Thromboembolism , Ventricular Dysfunction, Right , Biomarkers/blood , Blood Sedimentation , C-Reactive Protein/metabolism , Cytokines/blood , Disease-Free Survival , Female , Fibrinogen/metabolism , Humans , Leukocyte Count , Male , P-Selectin/blood , Pulmonary Embolism/blood , Pulmonary Embolism/mortality , Survival Rate , Venous Thromboembolism/blood , Venous Thromboembolism/mortality , Ventricular Dysfunction, Right/blood , Ventricular Dysfunction, Right/mortalitySubject(s)
Humans , Agammaglobulinemia , Lymphatic Diseases , Thymoma , Thymus Neoplasms , T-LymphocytesABSTRACT
INTRODUCTION: COVID-19 predisposes patients to a higher risk of venous thromboembolism (VTE), although the extent of these implications is unclear and the risk of bleeding has been poorly evaluated. To date, no studies have reported long-term outcomes of patients with COVID-19 and VTE. METHOD: Prospective observational study to evaluate long-term (90 days or more) outcomes of patients diagnosed with VTE (PE, DVT of the extremities, or both) in the setting of COVID-19. The main outcome of the study was a compound of major bleeding and death. RESULTS: The study comprised 100 patients (mean age 65 ± 13.9 years). At the time of VTE diagnosis, 66% patients were hospitalized, 34.8% of them in the ICU. Mean follow-up was 97.9 ± 23.3 days. During the study period, 24% patients died and median time to death was 12 (IQR: 2.25-20.75) days, 11% patients had major bleeding and median time to event was 12 (IQR: 5-16) days. The cause of death was PE in 5% and bleeding in 2% of patients. There were no VTE recurrences. The main study outcome occurred in 29% patients. Risk of death or major bleeding was independently associated with ICU admission (HR 12.2; 95% CI 3.0-48.3), thrombocytopenia (HR 4.5; 95% CI 1.2-16.5), and cancer (HR 21.6; 95% CI 1.8-259). CONCLUSION: In patients with COVID-19 and VTE, mortality and major bleeding were high and almost a third of deaths were VTE-related. The majority of complications occurred in the first 30 days. ICU admission, thrombocytopenia, and cancer are risk factors for poor prognosis.
Subject(s)
COVID-19/complications , Hemorrhage/etiology , SARS-CoV-2 , Venous Thromboembolism/etiology , Aged , COVID-19/mortality , Female , Follow-Up Studies , Hemorrhage/epidemiology , Hemorrhage/mortality , Humans , Male , Middle Aged , Pandemics , Prospective Studies , Pulmonary Embolism/etiology , Risk Factors , Spain/epidemiology , Time Factors , Venous Thromboembolism/epidemiology , Venous Thromboembolism/mortality , Venous Thrombosis/etiologySubject(s)
Nocardia Infections , Nocardia , Humans , Nocardia Infections/diagnosis , Nocardia asteroidesSubject(s)
Coronavirus Infections/diagnosis , Erythema Nodosum/diagnosis , Leg , Pneumonia, Viral/diagnosis , Betacoronavirus , COVID-19 , COVID-19 Testing , Clinical Laboratory Techniques , Erythema Nodosum/drug therapy , Female , Humans , Middle Aged , Pandemics , SARS-CoV-2 , Steroids/therapeutic use , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: There is limited evidence on the etiology and outcomes of renal infarction. A provoking factor is identified only in one- to two-thirds of patients. METHODS: This is a retrospective observational study. The clinical characteristics and outcomes of patients with acute renal infarction were studied; the sample was divided into two groups according to the presence of at least one provoking factor at the time of diagnosis (atrial fibrillation, flutter, major thrombophilia, or renal artery malformations). RESULTS: The study comprised 59 patients with a mean age of 63 (±16.7) years and a follow-up period of 3.1 (±2.8) years. An identifiable provoking factor was found for 59.3% of the renal infarctions at the time of diagnosis, and atrial fibrillation was the most frequent one (in 49.2% of all patients). Renal impairment was found in 49.2% of the patients at diagnosis and in 50.8% of the patients 6 months after the event (p = 0.525). When compared with the idiopathic group, the patients with provoked infarction were older (69.8 vs. 57.9 years, p = 0.014) and had a higher rate of recurrence of arterial thrombosis during follow-up (18.8 vs. 0%, p = 0.028), but there were no differences in the rest of the baseline characteristics or in mortality rates. Six patients (10.2%) in the idiopathic group were diagnosed with atrial fibrillation during follow-up. CONCLUSIONS: Atrial fibrillation, both at diagnosis and at follow-up, is the most common identifiable cause of renal infarction; however, a significant number of patients are idiopathic, and these are younger, but they have a similar burden of cardiovascular disease and a lower risk of arterial recurrence.
Subject(s)
Cardiovascular Diseases/complications , Infarction/etiology , Kidney/blood supply , Tertiary Care Centers , Age Factors , Aged , Atrial Fibrillation/complications , Cohort Studies , Female , Follow-Up Studies , Humans , Male , Middle Aged , Recurrence , Retrospective Studies , Thrombosis/complicationsABSTRACT
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