Tumor necrosis factor receptor associated periodic syndrome: Phenotypic heterogeneity in a family carrying a low-penetrance mutation

López-Garrido, Marta; Hernández-Cabrera, Michele; Pérez-Arellano, José Luis

doi:10.1016/j.medcle.2019.12.009

array:24 ["pii" => "S2387020620306203" "issn" => "23870206" "doi" => "10.1016/j.medcle.2019.12.009" "estado" => "S300" "fechaPublicacion" => "2021-01-22" "aid" => "5097" "copyright" => "Elsevier España, S.L.U.. All rights reserved" "copyrightAnyo" => "2020" "documento" => "article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2021;156:91-2" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:19 [ "pii" => "S0025775320301135" "issn" => "00257753" "doi" => "10.1016/j.medcli.2019.12.018" "estado" => "S300" "fechaPublicacion" => "2021-01-22" "aid" => "5097" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2021;156:91-2" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "Carta científica" "titulo" => "Síndrome periódico asociado al receptor del factor de necrosis tumoral: heterogeneidad clínica en una familia con mutación de baja penetrancia" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "91" "paginaFinal" => "92" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Tumor necrosis factor receptor associated periodic syndrome: Phenotypic heterogeneity in a family carrying a low-penetrance mutation" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1071 "Ancho" => 2167 "Tamanyo" => 90863 ] ] "descripcion" => array:1 [ "es" => "Árbol genealógico de la familia, mostrando a los 2 hermanos afectos de la enfermedad, y a sus descendientes sanos portadores de la mutación R92Q." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Marta López-Garrido, Michele Hernández-Cabrera, José Luis Pérez-Arellano" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Marta" "apellidos" => "López-Garrido" ] 1 => array:2 [ "nombre" => "Michele" "apellidos" => "Hernández-Cabrera" ] 2 => array:2 [ "nombre" => "José Luis" "apellidos" => "Pérez-Arellano" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2387020620306203" "doi" => "10.1016/j.medcle.2019.12.009" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620306203?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775320301135?idApp=UINPBA00004N" "url" => "/00257753/0000015600000002/v2_202210180531/S0025775320301135/v2_202210180531/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2387020620306215" "issn" => "23870206" "doi" => "10.1016/j.medcle.2020.10.004" "estado" => "S300" "fechaPublicacion" => "2021-01-22" "aid" => "5481" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2021;156:93" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "COVID-19 and restrictions on tobacco use" "subtitulo" => "COVID-19 y restricciones en el consumo de tabaco" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "93" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Magalí Andreu-Mondon, Pablo Barrio-Gimenez, Sílvia Mondon-Vehils" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Magalí" "apellidos" => "Andreu-Mondon" ] 1 => array:2 [ "nombre" => "Pablo" "apellidos" => "Barrio-Gimenez" ] 2 => array:2 [ "nombre" => "Sílvia" "apellidos" => "Mondon-Vehils" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775320307636" "doi" => "10.1016/j.medcli.2020.10.008" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775320307636?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620306215?idApp=UINPBA00004N" "url" => "/23870206/0000015600000002/v2_202102250946/S2387020620306215/v2_202102250946/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2387020620306070" "issn" => "23870206" "doi" => "10.1016/j.medcle.2020.09.002" "estado" => "S300" "fechaPublicacion" => "2021-01-22" "aid" => "5432" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2021;156:89-91" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "Scientific letter" "titulo" => "CD64, CD11a and CD18 leukocytes expression in children with SARS-CoV-2 multisystem inflammatory syndrome versus children with Kawasaki disease: Similar but not the same" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "89" "paginaFinal" => "91" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Comparación de la expresión de CD64, CD11a y CD18 en leucocitos de niños con síndrome inflamatorio multisistémico relacionado con SARS-CoV-2 y enfermedad de Kawasaki: semejantes pero distintos" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Alberto García-Salido, Sandra Cuenca-Carcelén, Ana Castillo-Robleda" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Alberto" "apellidos" => "García-Salido" ] 1 => array:2 [ "nombre" => "Sandra" "apellidos" => "Cuenca-Carcelén" ] 2 => array:2 [ "nombre" => "Ana" "apellidos" => "Castillo-Robleda" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S0025775320306643" "doi" => "10.1016/j.medcli.2020.09.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775320306643?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620306070?idApp=UINPBA00004N" "url" => "/23870206/0000015600000002/v2_202102250946/S2387020620306070/v2_202102250946/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "Scientific letter" "titulo" => "Tumor necrosis factor receptor associated periodic syndrome: Phenotypic heterogeneity in a family carrying a low-penetrance mutation" "tieneTextoCompleto" => true "saludo" => "To the Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "91" "paginaFinal" => "92" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Marta López-Garrido, Michele Hernández-Cabrera, José Luis Pérez-Arellano" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Marta" "apellidos" => "López-Garrido" "email" => array:1 [ 0 => "martamlg1492@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Michele" "apellidos" => "Hernández-Cabrera" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "c" "identificador" => "aff0015" ] ] ] 2 => array:3 [ "nombre" => "José Luis" "apellidos" => "Pérez-Arellano" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "c" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Medicina Interna, Complejo Hospitalario Universitario Insular-Materno Infantil de Canarias, Las Palmas de Gran Canaria, Gran Canaria, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Enfermedades Infecciosas y Medicina Tropical, Complejo Hospitalario Universitario Insular-Materno Infantil de Canarias, Las Palmas de Gran Canaria, Gran Canaria, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Departamento de Ciencias Médicas y Quirúrgicas, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Gran Canaria, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome periódico asociado al receptor del factor de necrosis tumoral: heterogeneidad clínica en una familia con mutación de baja penetrancia" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1071 "Ancho" => 2167 "Tamanyo" => 89917 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "Genealogical family treey, showing the 2 siblings affected by the disease, and their healthy descendants carrying the R92Q mutation." ] ] ] "textoCompleto" => "Hereditary periodic fever syndromes are a group of diseases caused by a dysregulation of the innate immune system, characterized by recurrent episodes of fever and systemic inflammatory signs, alternating with relatively symptom-free periods. These include the tumour necrosis factor receptor-associated periodic syndrome (TRAPS).TRAPS is an autosomal dominant disease that affects one in every million inhabitants, caused by the TNFR1A gene mutation. It is characterized by recurrent flares of fever, myalgia, migratory rash, and ocular involvement.<a class="elsevierStyleCrossRefs" href="#bib0005">1,2</a> The diagnosis is clinical and genetic. It often occurs during childhood, although there are cases of late onset.<a class="elsevierStyleCrossRefs" href="#bib0005">1,2</a> Secondary amyloidosis is the most feared complication.Our study reports the case of a family of 4 members who carry the R92Q mutation of the gene TNFR1A.The index case was a 41-year-old woman who, since the age of 14, had suffered from recurrent flares of fever lasting more than a week, general malaise, sterile oligoarthritis, myalgias, migratory salmon coloured skin rash, painful on palpation and bilateral eyelid oedema, with poor response to non-steroidal anti-inflammatory drugs, corticosteroids or colchicine. During these exacerbations, the patient had elevated acute phase reactants, which went back to normal values during the symptom-free periods. A brother of the patient had similar episodes, but of less intensity and onset in adulthood.With the suspected diagnosis of hereditary autoinflammatory syndrome, a genetic analysis was performed, detecting an heterozygous R92Q mutation of the gene TNFRS1A, which was also present in the affected brother, his daughter and the patient's daughter (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).<elsevierMultimedia ident="fig0005"></elsevierMultimedia>Both patients began treatment with etanercept, showing a satisfactory initial response. This response was transitory in our index patient, who had to substitute anakinra treatment 3 years after diagnosis due to recurrence of severe exacerbations, while her brother showed a relatively benign course. The descendants of the patients, carriers of the mutation, have not developed symptoms suggestive of TRAPS to date. None of the patients developed secondary amyloidosis.TRAPS is a syndrome with an exceptionally low prevalence, with nonspecific symptoms, and whose confirmatory diagnosis is not very accessible. An exhaustive history-taking and a high clinical suspicion are essential to avoid long diagnostic delays, with the impact that this entails on the quality of life of the patient, as well as to prevent the occurrence of long-term complications.Classification criteria that combine clinical and genetic aspects have recently been published.<a class="elsevierStyleCrossRef" href="#bib0015">3</a> The presence of at least one of the following clinical criteria is required in the presence of a confirmatory genotype and at least 2 in the case of a non-confirmatory genotype: 1) duration of episodes ≥7 days, 2) myalgia, 3) migratory rash, 4) periorbital oedema and 5) family history. In our case, both patients met the classification criteria despite having a mutation of uncertain significance.At present, more than 150 mutations responsible for this disease are known, collected in the Infevers registry, whose pathogenic mechanism is still uncertain. Some of them confer structural changes in the receptor and show high penetrance, while other non-structural variants, including R92Q, generally give rise to a milder phenotype, although with more common episodes, a later onset, lower risk of amyloidosis and a lower frequency of family history.<a class="elsevierStyleCrossRef" href="#bib0005">1</a>The role of the R92Q mutation in the pathogenesis of TRAPS is a highly debated topic and has recently been classified as a variant of uncertain significance.<a class="elsevierStyleCrossRef" href="#bib0010">2</a> Some authors consider that it could be a benign polymorphism given its high representation in the general population (>1%), while others consider that it is an incomplete penetrance mutation.<a class="elsevierStyleCrossRefs" href="#bib0020">4,5</a> We consider that this family illustrates the low penetrance associated with this mutation. The observed clinical heterogeneity should also be noted, with a relatively severe clinical course and onset during childhood in our index patient, unlike her brother. This could be due to not-yet-defined genetic factors that interact to cause the phenotypic expression." "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "Please cite this article as: López-Garrido M, Hernández-Cabrera M, Pérez-Arellano JL. Síndrome periódico asociado al receptor del factor de necrosis tumoral: heterogeneidad clínica en una familia con mutación de baja penetrancia. Med Clin (Barc). 2021;156:91–92." ] ] "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1071 "Ancho" => 2167 "Tamanyo" => 89917 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "Genealogical family treey, showing the 2 siblings affected by the disease, and their healthy descendants carrying the R92Q mutation." ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "H.J. Lachmann" 1 => "R. Papa" 2 => "K. Gerhold" 3 => "L. Obici" 4 => "I. Touitou" 5 => "L. Cantarini" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1136/annrheumdis-2013-204184" "Revista" => array:6 [ "tituloSerie" => "Ann Rheum Dis" "fecha" => "2014" "volumen" => "73" "paginaInicial" => "2160" "paginaFinal" => "2167" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23965844" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "R. Papa" 1 => "M. Doglio" 2 => "H.J. Lachmann" 3 => "S. Ozen" 4 => "J. Frenkel" 5 => "A. Simon" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1186/s13023-017-0720-3" "Revista" => array:5 [ "tituloSerie" => "Orphanet J Rare Dis" "fecha" => "2017" "volumen" => "12" "paginaInicial" => "167" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29047407" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Classification criteria for autoinflammatory recurrent fevers" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Gattorno" 1 => "M. Hofer" 2 => "S. Federici" 3 => "F. Vanoni" 4 => "F. Bovis" 5 => "I. Aksentijevich" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1136/annrheumdis-2019-215048" "Revista" => array:6 [ "tituloSerie" => "Ann Rheum Dis" "fecha" => "2019" "volumen" => "78" "paginaInicial" => "1025" "paginaFinal" => "1032" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/31018962" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "N. Ravet" 1 => "S. Rouaghe" 2 => "C. Dodé" 3 => "J. Bienvenu" 4 => "J. Stirnemann" 5 => "P. Lévy" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1136/ard.2005.048611" "Revista" => array:6 [ "tituloSerie" => "Ann Rheum Dis" "fecha" => "2006" "volumen" => "65" "paginaInicial" => "1158" "paginaFinal" => "1162" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16569687" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L. Cantarini" 1 => "D. Rigante" 2 => "G. Merlini" 3 => "A. Vitale" 4 => "F. Caso" 5 => "O.M. Lucherini" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.semarthrit.2013.12.002" "Revista" => array:6 [ "tituloSerie" => "Semin Arthritis Rheum" "fecha" => "2014" "volumen" => "43" "paginaInicial" => "818" "paginaFinal" => "823" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24393624" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015600000002/v2_202102250946/S2387020620306203/v2_202102250946/en/main.assets" "Apartado" => array:4 [ "identificador" => "43311" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015600000002/v2_202102250946/S2387020620306203/v2_202102250946/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620306203?idApp=UINPBA00004N"]

ISSN: 2387-0206

Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.

See more Open Access Option

Indexed in:

Current Contents/Clinical Medicine, Journal Citation Reports, SCI-Expanded, Index Medicus/Medline, Excerpta Medica/EMBASE, IBECS, IME, MEDES, PASCAL, SCOPUS, SciVerse ScienceDirect

Subscribe:

Impact factor

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years.

© Clarivate Analytics, Journal Citation Reports 2022

Impact factor 2023

2.6

Citescore

CiteScore measures average citations received per document published.

Citescore 2023

3.1

SJR

SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact.

SJR 2023

0.371

SNIP

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

SNIP 2023

0.511

View more metrics

Journal Information

Previous article | Next article

Vol. 156. Issue 2.