Resultados del programa de cribado de enfermedad de Fabry en pacientes con córnea verticillata en el Hospital Universitario de Navarra / Results of the screening program for Fabry disease in patients with cornea verticillata at the University Hospital of Navarre

Introducción La cornea verticillata (CV) o queratopatía vortex se caracteriza por la presencia de depósitos en forma de espiral en el epitelio corneal. Las causas más frecuentes son los fármacos antipalúdicos y la amiodarona, y dentro de las causas sistémicas la enfermedad de Fabry (EF). Material y métodos Se realiza un estudio descriptivo prospectivo multidisciplinar en un centro de tercer nivel y de referencia en la Comunidad Foral de Navarra, tras la implementación de un programa de despistaje de la EF en los pacientes atendidos en consultas del servicio de oftalmología que eran diagnosticados de CV y posteriormente fueron remitidos a la consulta de enfermedades minoritarias del servicio de Medicina Interna del Hospital Universitario de Navarra para la realización del estudio de la EF. Resultados Dos mujeres y 4 varones, con una edad media de 76,8 años, se diagnosticaron de CV, de un total de 17.280 pacientes valorados en consultas externas por 3 especialistas de oftalmología durante el periodo de abril de 2018 a abril de 2020. Una paciente falleció antes de realizar el estudio de despistaje y en ningún paciente se diagnosticó la EF. Conclusiones A pesar de que el programa de despistaje de la EF en pacientes con CV en el Hospital Universitario de Navarra no confirmó ningún caso con EF, los especialistas en oftalmología deben tener en cuenta el posible diagnóstico de la EF en aquellos pacientes con CV en sus consultas rutinarias (AU)

Introduction Cornea verticillata (CV) or vortex keratopathy is characterized by the presence of spiral-shaped deposits in the corneal epithelium. The most frequent causes are antimalarial drugs and amiodarone and, among systemic causes, Fabry disease (FD). Material and methods A multidisciplinary, prospective, descriptive study was conducted in a tertiary reference center in Spain's Autonomous Community of Navarre after the implementation of a FD screening program for patients attended to in the Ophthalmology Department. The study analyzed those diagnosed with CV, who were subsequently referred to the rare disease clinic of the University Hospital of Navarre's Internal Medicine Department for an FD study. Results Two women and four men with a mean age of 76.8 years were diagnosed with CV out of a total of 17,280 patients evaluated in outpatient consultations by three ophthalmology specialists during the period from April 2018 to April 2020. One patient died before performing the screening study and no patients were diagnosed with FD. Conclusions Despite the fact that the University Hospital of Navarre's FD screening program for patients with CV did not confirm any cases of FD, ophthalmology specialists should consider the possible diagnosis of FD in patients with CV in their routine consultations (AU)

Results of the screening program for Fabry disease in patients with cornea verticillata at the University Hospital of Navarre.

INTRODUCTION: Cornea verticillata (CV) or vortex keratopathy is characterized by the presence of spiral-shaped deposits in the corneal epithelium. The most frequent causes are antimalarial drugs and amiodarone and, among systemic causes, Fabry disease (FD). MATERIAL AND METHODS: A multidisciplinary, prospective, descriptive study was conducted in a tertiary reference center in Spain's Autonomous Community of Navarre after the implementation of a FD screening program for patients attended to in the Ophthalmology Department. The study analyzed those diagnosed with CV, who were subsequently referred to the rare disease clinic of the University Hospital of Navarre's Internal Medicine Department for an FD study. RESULTS: Two women and four men with a mean age of 76.8 years were diagnosed with CV out of a total of 17,280 patients evaluated in outpatient consultations by three ophthalmology specialists during the period from April 2018 to April 2020. One patient died before performing the screening study and no patients were diagnosed with FD. CONCLUSIONS: Despite the fact that the University Hospital of Navarre's FD screening program for patients with CV did not confirm any cases of FD, ophthalmology specialists should consider the possible diagnosis of FD in patients with CV in their routine consultations.

Sintomatología muscular asociada a estatinas: ¿mito o realidad? / Statin-associated muscle symptoms: Myth or reality?

La sintomatología muscular asociada con estatinas es una entidad que engloba una constelación de diversas manifestaciones clínicas de distinta gravedad. Desde la introducción de las primeras estatinas se han publicado numerosos estudios acerca de su incidencia, fisiopatología, diagnóstico y tratamiento; sin embargo, a día de hoy estos aspectos siguen generando controversia. Con el aumento progresivo del uso de estatinas en la población general se han multiplicado las notificaciones de reacciones adversas relacionadas con su uso, particularmente las relacionadas con la toxicidad muscular. No obstante, las diferencias existentes entre los estudios publicados tanto en metodología como en resultados obtenidos hacen de esta relación un tema complejo y de gran interés para el clínico y los pacientes. La integración de la evidencia de la que disponemos actualmente puede ayudarnos a comprender mejor esta entidad y facilitar su manejo en la práctica clínica (AU)

Statin-associated muscle symptoms is an entity that encompasses a constellation of various clinical manifestations of variyng severity. Since the introduction of the first statins, numerous studies have been published regarding its incidence, pathophysiology, diagnosis and treatment; however, to this day these aspects are still controversial. With the progressive increase in the use of statins in the general population, notifications of adverse reactions related to its use have multiplied, particularly those related to muscular toxicity. Nevertheless, the differences between the published studies, both in methodology and in the results obtained, make this relationship a complex issue of great interest for clinicians and patients. The integration of the evidence that we currently have can help us understand better this entity and facilitate its management in clinical practice (AU)

Statin-associated muscle symptoms: Myth or reality?

Statin-associated muscle symptoms is an entity that encompasses a constellation of various clinical manifestations of variyng severity. Since the introduction of the first statins, numerous studies have been published regarding its incidence, pathophysiology, diagnosis and treatment; however, to this day these aspects are still controversial. With the progressive increase in the use of statins in the general population, notifications of adverse reactions related to its use have multiplied, particularly those related to muscular toxicity. Nevertheless, the differences between the published studies, both in methodology and in the results obtained, make this relationship a complex issue of great interest for clinicians and patients. The integration of the evidence that we currently have can help us understand better this entity and facilitate its management in clinical practice.

Utility of Doppler ultrasound for the study of ocular vascular disease.

Ocular vascular problems represent an emerging pathology within the activity of the internist. Ocular ultrasound is a widely used technique to evaluate a variety of eye conditions. Specifically, Doppler ultrasound of the ophthalmic vessels has become a very useful tool in diagnosing various eye diseases. Doppler ultrasound allows for examining blood flow in the eye even in the presence of eye opacities that impede viewing the posterior segment of the eye. In this review, we describe the principles and techniques of an ocular vascular Doppler ultrasound examination in clinical practice and provide a general approach to the ultrasound characteristics of the most important vascular eye disorders for internists. These include central retinal artery and vein occlusions, chronic retinal ischemic syndrome, anterior optic ischemic neuropathy, and diabetic retinopathy.

Acute stroke care during the COVID-19 pandemic. Ictus Madrid Program recommendations. / Atención al ictus agudo durante la pandemia por COVID-19. Recomendaciones Plan Ictus Madrid.

INTRODUCTION: The COVID-19 pandemic has resulted in complete saturation of healthcare capacities, making it necessary to reorganise healthcare systems. In this context, we must guarantee the provision of acute stroke care and optimise code stroke protocols to reduce the risk of SARS-CoV-2 infection and rationalise the use of hospital resources. The Madrid Stroke multidisciplinary group presents a series of recommendations to achieve these goals. METHODS: We conducted a non-systematic literature search using the keywords "stroke" and "COVID-19" or "coronavirus" or "SARS-CoV-2." Our literature review also included other relevant studies known to the authors. Based on this literature review, a series of consensus recommendations were established by the Madrid Stroke multidisciplinary group and its neurology committee. RESULTS: These recommendations address 5 main objectives: 1) coordination of action protocols to ensure access to hospital care for stroke patients; 2) recognition of potentially COVID-19-positive stroke patients; 3) organisation of patient management to prevent SARS-CoV-2 infection among healthcare professionals; 4) avoidance of unnecessary neuroimaging studies and other procedures that may increase the risk of infection; and 5) safe, early discharge and follow-up to ensure bed availability. This management protocol has been called CORONA (Coordinate, Recognise, Organise, Neuroimaging, At home). CONCLUSIONS: The recommendations presented here may assist in the organisation of acute stroke care and the optimisation of healthcare resources, while ensuring the safety of healthcare professionals.

Consensus document for the training of residents in cardiovascular risk. / Documento de consenso para la formación de residentes en riesgo vascular.

Vascular disease is currently a major health problem, not only for its high prevalence but also for the considerable morbidity, mortality and disability that it entails. Medical internists play a central role in diagnosing and treating vascular disease and controlling the cardiovascular risk factors (CRFs) that cause it. In fact, the clinical care of patients in cardiovascular risk units is a specific characteristic of an internist's field of action. This article contains the consensus document for the training of residents in CRFs. This proposal by the Cardiovascular Risk Workgroup of the Spanish Society of Internal Medicine emerged as a response by our Society to the specific need for training in CRFs. Implementing this proposal would provide an important benefit, not only for medical internists in training but also for society as a whole.

Análisis coste-efectividad de apixaban frente a dabigatrán en la prevención de la tromboembolia venosa en pacientes intervenidos de artroplastia total de rodilla o de cadera / Cost-effectiveness analysis of apixaban compared to dabigatran in the prevention of venous thromboembolism in patients subjected to total knee or hip replacement

Objetivo. Análisis de coste-efectividad de apixaban frente a dabigatrán en la prevención de la tromboembolia venosa (TEV) en la artroplastia total de rodilla (ATR) o cadera (ATC). Métodos. Modelo con 2 periodos: posprevención de 90 días (corto plazo) y a 5 años (Markov). Se incluyeron las complicaciones de la TEV (trombosis venosa profunda distal y proximal, embolia pulmonar, sangrados y síndrome postrombótico). La eficacia comparada se obtuvo de un metaanálisis y los costes de fuentes españolas. Se aplicó una tasa de descuento del 3,5% anual para costes y beneficios. Resultados. Según el metaanálisis, el riesgo relativo (RR) de TEV o muerte, frente a enoxaparina, fue menor con apixaban que con dabigatrán en ATR (RR: 0,89; IC 95% 0,32-1,65 y RR: 1,35, IC 95% 0,19-3,39) y en ATC (RR: 0,35, IC 95% 0,05-2,51 y RR: 0,89, IC 95% 0,22-3,21, respectivamente). A corto plazo, con apixaban se obtendrían más años de vida (AVG) y más años de vida ajustados por calidad (AVAC) por paciente, tanto en ATR (0,2037; 0,1908) como en ATC (0,2417; 0,1921) que con dabigatrán (0,1818; 0,1901, y 0,2345; 0,1918, respectivamente). Habría menos costes por paciente con apixaban en ATR (-14 €) por lo que este sería el tratamiento dominante. En ATC se producirían costes adicionales (15 €) con un coste por AVG de 2.083 y de 50.000 € por AVAC ganado. A 5 años, apixaban fue más barato y más efectivo en ATR y en ATC. Conclusiones. Según el presente estudio, apixaban es un tratamiento coste-efectivo en comparación con dabigatrán en la prevención de la TEV (AU)

Objective. Cost-effectiveness analysis of apixaban vs. dabigatran in preventing venous thromboembolism (VTE) in total knee (TKR) or hip (THR) replacement. Methods. Model with two periods: post-prophylaxis period of 90 days (short term) and 5 years (Markov). VTE complications (distal and proximal deep vein thrombosis, pulmonary embolism, bleeding and post-thrombotic syndrome) were included. The comparative efficacy was obtained from a meta-analysis, and the costs from Spanish sources. An annual discount rate of 3.5% for costs and benefits was applied. Results. According to the meta-analysis, the relative risk (RR) of VTE or death, compared with enoxaparin, was lower with apixaban than with dabigatran in TKR (RR 0.89, 95% CI 0.32 to 1.65 and RR 1.35, 95% CI, 0.19 to 3.39) and THR (RR 0.35, 95% CI, 0.05 to 2.51 and RR 0.89, 95% CI 0.22 to 3.21, respectively). In the short term, there were more life years (LYG) and more quality-adjusted life years (QALY) per patient in TKR (0.2037; 0.1908) and THR (0.2417; 0.1921) with apixaban than with dabigatran (0.1818; 0.1901 and 0.2345; 0.1918, respectively) were obtained. With apixaban lower costs per patient in TKR (-14 €) were generated, so it was the dominant treatment. Additional costs (15 €) could be incurred in THR, with a cost per LYG of 2,083 € and 50,000 € per QALY gained. In 5 years, apixaban was cheaper and more effective in both TKR and THR. Conclusions. According to this study, apixaban was shown to be a cost-effective treatment compared with dabigatran for VTE prevention (AU)

[Cost-effectiveness analysis of apixaban compared to dabigatran in the prevention of venous thromboembolism in patients subjected to total knee or hip replacement]. / Análisis coste-efectividad de apixaban frente a dabigatrán en la prevención de la tromboembolia venosa en pacientes intervenidos de artroplastia total de rodilla o de cadera.

OBJECTIVE: Cost-effectiveness analysis of apixaban vs. dabigatran in preventing venous thromboembolism (VTE) in total knee (TKR) or hip (THR) replacement. METHODS: Model with two periods: post-prophylaxis period of 90 days (short term) and 5 years (Markov). VTE complications (distal and proximal deep vein thrombosis, pulmonary embolism, bleeding and post-thrombotic syndrome) were included. The comparative efficacy was obtained from a meta-analysis, and the costs from Spanish sources. An annual discount rate of 3.5% for costs and benefits was applied. RESULTS: According to the meta-analysis, the relative risk (RR) of VTE or death, compared with enoxaparin, was lower with apixaban than with dabigatran in TKR (RR 0.89, 95% CI 0.32 to 1.65 and RR 1.35, 95% CI, 0.19 to 3.39) and THR (RR 0.35, 95% CI, 0.05 to 2.51 and RR 0.89, 95% CI 0.22 to 3.21, respectively). In the short term, there were more life years (LYG) and more quality-adjusted life years (QALY) per patient in TKR (0.2037; 0.1908) and THR (0.2417; 0.1921) with apixaban than with dabigatran (0.1818; 0.1901 and 0.2345; 0.1918, respectively) were obtained. With apixaban lower costs per patient in TKR (-14 €) were generated, so it was the dominant treatment. Additional costs (15 €) could be incurred in THR, with a cost per LYG of 2,083 € and 50,000 € per QALY gained. In 5 years, apixaban was cheaper and more effective in both TKR and THR. CONCLUSIONS: According to this study, apixaban was shown to be a cost-effective treatment compared with dabigatran for VTE prevention.

Fiebre Q: 54 nuevos casos de un hospital terciario de Madrid / Q fever: 54 new cases from a tertiary hospital in Madrid

Objetivos. Describir las características epidemiológicas y clínicas de la fiebre Q en una zona urbana de la Comunidad de Madrid. Material y métodos. Estudio observacional retrospectivo de cohorte de los casos diagnosticados de fiebre Q en un único centro desde enero de 2001 hasta diciembre de 2008. El diagnóstico de fiebre Q aguda se realizó mediante la detección de anticuerpos frente a antígenos fase II por técnica de enzyme-linked immunosorbent assay (ELISA) e inmunofluorescencia indirecta (IFI), en base a un título aislado ≥ 1/80 o cuando se demostró seroconversión o serorrefuerzo. El de fiebre Q crónica se realizó mediante anticuerpos frente antígenos fase I positivo si IgG >= 1/800. Resultados. Se diagnosticaron 54 casos de fiebre Q en adultos. Cincuenta y un pacientes con fiebre Q aguda y 3 con fiebre Q crónica. Predominaron los varones de más de 50 años de edad y residentes en medio urbano. La clínica más frecuente fue la neumonía, la insuficiencia renal (33%), la hepatitis y el síndrome febril sin focalidad (25% ambas), con infección concomitante en el 37% de los casos. El seguimiento clínico y serológico en la mayoría de los pacientes fue inadecuado. La doxiciclina fue el tratamiento de mayor respuesta en enfermedad aguda, aunque en 10% con duración inadecuada(AU)

Objectives. To describe the epidemiological and clinical characteristics of Q fever in an urban zone of the Community of Madrid (Spain). Material and methods. An observational, retrospective study was performed of a cohort of cases diagnosed of Q fever within a single center in Madrid from January 2001 to December 2008. The diagnosis of acute Q fever was made by detection of antibodies against phase II antigen by Enzyme-Linked Immunosorbent Assay (ELISA) and indirect immunofluorescence (IFA), based on isolated titer ≥ 1/80 or when they showed seroconversion or seroreinforcement. Chronic Q fever was diagnosed using antibodies against phase I with a positive value if IgG >= 1/800. Results. A total of 54 cases of Q fever in adults were diagnosed; 51 patients had acute Q fever and only 3 chronic. There was a predominance of men over > 50years and from urban areas. The most frequent manifestation was pneumonia (54%), followed by renal failure (33%), hepatitis and fever without focality (25% in both), with concomitant infection in 37% of the cases. The clinical and serological monitoring in most of the patients were inadequate. The best response to treatment was with doxycycline in acute illness, although duration was inadequate in 10%(AU)

[Q fever: 54 new cases from a tertiary hospital in Madrid]. / Fiebre Q: 54 nuevos casos de un hospital terciario de Madrid.

OBJECTIVES: To describe the epidemiological and clinical characteristics of Q fever in an urban zone of the Community of Madrid (Spain). MATERIAL AND METHODS: An observational, retrospective study was performed of a cohort of cases diagnosed of Q fever within a single center in Madrid from January 2001 to December 2008. The diagnosis of acute Q fever was made by detection of antibodies against phase II antigen by Enzyme-Linked Immunosorbent Assay (ELISA) and indirect immunofluorescence (IFA), based on isolated titer ≥ 1/80 or when they showed seroconversion or seroreinforcement. Chronic Q fever was diagnosed using antibodies against phase I with a positive value if IgG ≥ 1/800. RESULTS: A total of 54 cases of Q fever in adults were diagnosed; 51 patients had acute Q fever and only 3 chronic. There was a predominance of men over > 50 years and from urban areas. The most frequent manifestation was pneumonia (54%), followed by renal failure (33%), hepatitis and fever without focality (25% in both), with concomitant infection in 37% of the cases. The clinical and serological monitoring in most of the patients were inadequate. The best response to treatment was with doxycycline in acute illness, although duration was inadequate in 10%.

The role of endothelial progenitor cells and statins in endothelial function: a review.

Endothelial dysfunction, a well recognized marker of cardiovascular risk, is an early event in arteriosclerosis process. Diabetes mellitus, hypertension and dyslipidemia, known risk factors for coronary disease have been associated with endothelial dysfunction, which improves after the control of these factors. Statins have additional benefits on endothelial function not related to decreasing cholesterol levels, known as pleiotropic effects. Most recently it has been reported the effect of statins promoting bone marrow-derived mononuclear cells. These cells are positive for CD34 and KDR superficial markers of endothelial cellular lineage, which is consistent with the hypothesis that they constitute the endothelial progenitor cells. Circulating endothelial progenitor cells are involved in the repair process of the endothelium after endothelial-cell injury in myocardial ischemia, angina and other stressful situations. Recent studies have demonstrated an inverse relationship between the EPC count in peripheral blood and risk of developing a cardiovascular event. In addition, circulating EPC correlates with the presence of endothelial dysfunction and could play a role as a surrogate biologic marker in vascular function. The effect of statins on endothelial progenitor cells might contribute to improve endothelial function leading to a decrease in vascular risk, independently of their impact on LDL cholesterol. In this paper, we review the role of statins in EPC mobilization, its effect in endothelial function restoration and the relevance of this finding in cardiovascular risk. We also review future therapeutic implications.

Perspectiva histórica de la clasificación de las vasculitis / Historical perspective on the classification of vasculitis

No disponible

No disponible

[Effect of renin-angiotensin system in Fabry disease associated proteinuria]. / Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry.

AIM: To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. MATERIAL AND METHODS: We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. RESULTS: Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. CONCLUSIONS: Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients.

Budesonide combined with ursodeoxycholic acid in primary biliary cirrhosis with advanced liver damage.

We describe two patients with primary biliary cirrhosis who rapidly suffered progressive liver failure and developed jaundice, despite having undergone correct therapy using ursodeoxycholic acid. Both cases showed an extraordinary clinical and biochemical response 2 months after budesonide was added to standard therapy, leading to recovery of normal liver function.