Scientific letter
Hereditary hyperferritinemia-cataract syndrome: A case report
Síndrome de hiperferritinemia y cataratas: informe de un caso
a Servei d’Hematologia, Hospital Sant Joan de Déu, Althaia Xarxa Assistencial Universitària de Manresa, Manresa, Barcelona, Spain
b Universitat de Vic – Universitat Central de Catalunya, Spain
c Servei d’hematologia, Hospital de Berga, Barcelona, Spain
d Servei de Laboratori, Hospital de Berga, Barcelona, Spain
Read
Not available
Timeswas read the article
Total PDF
Total HTML
Share statistics
array:23 [ "pii" => "S2387020624004479" "issn" => "23870206" "doi" => "10.1016/j.medcle.2024.04.026" "estado" => "S300" "fechaPublicacion" => "2024-10-25" "aid" => "6708" "copyright" => "Elsevier España, S.L.U.. All rights reserved" "copyrightAnyo" => "2024" "documento" => "article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2024;163:421-2" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "itemSiguiente" => array:19 [ "pii" => "S2387020624004364" "issn" => "23870206" "doi" => "10.1016/j.medcle.2024.04.021" "estado" => "S300" "fechaPublicacion" => "2024-10-25" "aid" => "6690" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2024;163:423-4" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "High flow arteriovenous fistula: a cause of reversible heart failure in hemodialysis" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "423" "paginaFinal" => "424" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de hiperaflujo: una causa de insuficiencia cardíaca reversible en hemodiálisis" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Elena Jiménez Mayor, Silvia González Sanchidrián, Miguel Ángel Silva Cerpa" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Elena" "apellidos" => "Jiménez Mayor" ] 1 => array:2 [ "nombre" => "Silvia" "apellidos" => "González Sanchidrián" ] 2 => array:2 [ "nombre" => "Miguel Ángel" "apellidos" => "Silva Cerpa" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775324003452" "doi" => "10.1016/j.medcli.2024.04.016" "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/S0025775324003452?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020624004364?idApp=UINPBA00004N" "url" => "/23870206/0000016300000008/v1_202410240712/S2387020624004364/v1_202410240712/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2387020624004339" "issn" => "23870206" "doi" => "10.1016/j.medcle.2024.01.044" "estado" => "S300" "fechaPublicacion" => "2024-10-25" "aid" => "6622" "copyright" => "The Author(s)" "documento" => "article" "crossmark" => 1 "subdocumento" => "sco" "cita" => "Med Clin. 2024;163:415-20" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Special article</span>" "titulo" => "Trends in authorship in Medicina Clínica: an 11-year analysis of author gender" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "415" "paginaFinal" => "420" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Tendencias en la autoría en Medicina Clínica: un análisis de 11 años sobre el género de los autores" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1509 "Ancho" => 2091 "Tamanyo" => 172215 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Flow chart of the articles in the <span class="elsevierStyleSmallCaps">Medicina clínica</span> journal between the years 2012-2022 included in the study.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Xenia Artiga-Solana, Ernesto Muñoz-Mahamud, Andrés Combalia" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Xenia" "apellidos" => "Artiga-Solana" ] 1 => array:2 [ "nombre" => "Ernesto" "apellidos" => "Muñoz-Mahamud" ] 2 => array:2 [ "nombre" => "Andrés" "apellidos" => "Combalia" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775324001921" "doi" => "10.1016/j.medcli.2024.01.044" "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/S0025775324001921?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020624004339?idApp=UINPBA00004N" "url" => "/23870206/0000016300000008/v1_202410240712/S2387020624004339/v1_202410240712/en/main.assets" ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "Hereditary hyperferritinemia-cataract syndrome: A case report" "tieneTextoCompleto" => true "saludo" => "<span class="elsevierStyleItalic">Dear Editor</span>," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "421" "paginaFinal" => "422" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Cristina Motlló, Albert Altés, Margarita Curriu" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Cristina" "apellidos" => "Motlló" "email" => array:1 [ 0 => "cristinamotllo@gmail.com" ] "referencia" => array:4 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Albert" "apellidos" => "Altés" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Margarita" "apellidos" => "Curriu" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Servei d’Hematologia, Hospital Sant Joan de Déu, Althaia Xarxa Assistencial Universitària de Manresa, Manresa, Barcelona, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Universitat de Vic – Universitat Central de Catalunya, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servei d’hematologia, Hospital de Berga, Barcelona, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servei de Laboratori, Hospital de Berga, Barcelona, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de hiperferritinemia y cataratas: informe de un caso" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disease caused by mutations in the L-ferritin (FLT) subunit gen from ferritin protein. The HHCS was first described in 1995 by Girelli et al. After that, more than 40 different mutations have been informed as well as several reports from different families with HHCS.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Frequently, it is confused with other causes of hyperferritinemia and unnecessary bleeding is performed.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The present article describes a catalan family with a clinical diagnosis of HHCS, which was submitted to ferritin light chain gene sequencing.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Case report</span><p id="par0020" class="elsevierStylePara elsevierViewall">Thirty-six years old man was derived to hematologist to study long term hyperferritinemia used to be higher than 1000<span class="elsevierStyleHsp" style=""></span>ng/mL. This hyperferritinemia is known since the patient was a teenager. These levels seem to be high also in his sister, his mother, and his uncle.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The first study performed in our hospital showed ferritin 2796<span class="elsevierStyleHsp" style=""></span>ng/mL [upper normal value (UNV): 400<span class="elsevierStyleHsp" style=""></span>ng/mL], with normal transferrin saturation and iron level. Glucose and cholesterol levels were normal as well as and liver test. Triglycerides levels were high (240<span class="elsevierStyleHsp" style=""></span>mg/dL, UNV 150<span class="elsevierStyleHsp" style=""></span>mg/dL). Hemochromatosis genetic study resulted negative but presented H63D mutation in heterozigosis. Abdominal ecography objective diffuse hepatopathy. Due to high triglycerides levels, we recommended improve diet and treat with pills if necessary; and because of very high ferritin levels, phlebotomies were performed without decrease in ferritin levels. So that we completed studies with magnetic resonance which did not show iron overload and SF3B1 mutation that was, also, negative.</p><p id="par0030" class="elsevierStylePara elsevierViewall">After reviewing different causes of hyperferritinemia without iron overload, we asked for cataract in family and he informed that he was born with congenital cataract, and her sister too. Not his mother and uncles.</p><p id="par0035" class="elsevierStylePara elsevierViewall">We performed study of mutations of ferritin regulator gene and mutation c.-161C>T (rs398124636) was identified in the 5′UTR.</p><p id="par0040" class="elsevierStylePara elsevierViewall">With diagnosis of HHCS, the phlebotomies were stopped, and patient could be discharged with familiar recommendations.</p><p id="par0045" class="elsevierStylePara elsevierViewall">After that, his sister, a thirty-two years old woman, suffered from congenital cataract and hyperferritinemia, too. Never studied about the ferritin levels. We performed study of FLT c.-161C>T mutation, the same that presented her brother, and resulted positive. In this patient, we had not started phlebotomies and not performed magnetic resonance.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Discussion</span><p id="par0050" class="elsevierStylePara elsevierViewall">Five diseases have been described related with FTL mutations: HHCS, neuroferritinopathy, benign hyperferritinemia (without iron overload), autosomal dominant and recessive L-ferritin deficiency.</p><p id="par0055" class="elsevierStylePara elsevierViewall">HHCS mutations are located in the iron responsive element (IRE) at 5′ untranslated region (UTR) and causes the loss of ferritin translation repression and excess ferritin production without altering iron levels. However, this excess of ferritin arrives to the lens of the eyes and is deposited there causing the development of cataracts.</p><p id="par0060" class="elsevierStylePara elsevierViewall">These patients present inherited cataract associated with hyperferritinemia in the absence of iron overload in tissues as well as normal transferrin saturation and normal or low serum iron levels in contrast with hemochromatosis patients.</p><p id="par0065" class="elsevierStylePara elsevierViewall">Usually, it has been misdiagnosed as hemochromatosis due to elevated ferritin levels, and patients has been treated with phlebotomies suffering rapidly from iron-deficient anemia, but serum ferritin levels are still elevated.</p><p id="par0070" class="elsevierStylePara elsevierViewall">When hepatic magnetic resonance is performed, it shows no iron overload in hepatic tissue.</p><p id="par0075" class="elsevierStylePara elsevierViewall">We reckon that this syndrome is underdiagnosed due to its low knowledge. Medical outreach is important to raise awareness of this syndrome and be able to give the properly advises and treatment to these patients.</p><p id="par0080" class="elsevierStylePara elsevierViewall">In conclusion, genetic testing can be used for accurate diagnosis of HHCS to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases as well as to prevent unnecessary treatments.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Financial and ethical considerations</span><p id="par0085" class="elsevierStylePara elsevierViewall">The authors have no financial benefit according to the present case. The genetic tests were funded by the national public health system. The hereditary alteration was identified in a routine diagnostic process. The family of the involved patient was informed and consented to be screened. When the study was concluded patients were informed of our intention to publish the cases and gave their written consent for our publication of the clinical findings.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Conflict of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">The authors have no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Case report" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Discussion" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Financial and ethical considerations" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true ] "idiomaDefecto" => "en" "url" => "/23870206/0000016300000008/v1_202410240712/S2387020624004479/v1_202410240712/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/23870206/0000016300000008/v1_202410240712/S2387020624004479/v1_202410240712/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020624004479?idApp=UINPBA00004N" ]
