Letter to the Editor
Dysferlinopathy masquerading as a refractory polymyositis
Disferlinopatía, una causa de falsa polimiositis refractaria
a Internal Medicine Department, Vall d’Hebron General Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain
b Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
c Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
d Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universitat de Barcelona, Fundación Cellex, Barcelona, Spain
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Grau-Junyent" "autores" => array:4 [ 0 => array:4 [ "nombre" => "Jose" "apellidos" => "Loureiro Amigo" "email" => array:1 [ 0 => "jloureir@vhebron.net" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Eduard" "apellidos" => "Gallardo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Pia" "apellidos" => "Gallano" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "Josep M." "apellidos" => "Grau-Junyent" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Internal Medicine Department, Vall d’Hebron General Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universitat de Barcelona, Fundación Cellex, 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" => "Disferlinopatía, una causa de falsa polimiositis refractaria" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 988 "Ancho" => 1216 "Tamanyo" => 73762 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Western-blot dysferlin in monocytes. P1 (patient reported): 18% dysferlin expression. P2 (myopathy control): 82% dysferlin expression (normal). C: healthy control.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Dysferlinopathy is an autosomal recessive muscular dystrophy caused by mutations in the gene encoding dysferlin (DYSF). This entity may be expressed clinically with 2 main versions: a proximal myopathy called girdle muscular dystrophy type 2B (LGMD2B) or a distal myopathy (Miyoshi myopathy), both of them with mutation in the same gene.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Clinical manifestations of proximal muscle weakness, along with inflammatory findings that patients with LGMD2B phenotype may present can lead to a misdiagnosis of polymyositis (PM), with the subsequent number of consequences.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a woman aged 40 years diagnosed with PM-type inflammatory myopathy who attended our center for a second opinion. This patient had suffered, since young, from mild exercise intolerance and calf pain after intense exercise. Five years before visiting our center she suffered from a symptomatology of weak pelvic girdle muscles and limb myalgia, reason why an analysis showed increased muscle enzymes (CK 5863<span class="elsevierStyleHsp" style=""></span>IU/l [NV: <195<span class="elsevierStyleHsp" style=""></span>IU/l] and aldolase 51.4<span class="elsevierStyleHsp" style=""></span>IU/l [NV: <7<span class="elsevierStyleHsp" style=""></span>IU/l]). Initially it was thought that the symptomatology was due to the use of statins, which had been prescribed two years before. After the withdrawal of these drugs she was assessed at another hospital due to lack of clinical and testing improvement, where an electromyogram showed proximal myopathy in both quadriceps, and a muscle biopsy of this muscle showed necrosis of isolated muscle fibers, a lymphohistiocytic inflammatory infiltrate (mainly T lymphocytes) of endomysial location and regenerative changes of muscle fibers. With these findings she was diagnosed with PM and underwent neoplasm screening, with normal results. The immunological study was negative. The patient began treatment for a year and a half with prednisone and several immunosuppressors (methotrexate, azathioprine and mycophenolate), without a clear improvement. Therefore, ultimately she was administered rituximab, not responding to treatment either. Finally immunosuppressive therapy was discontinued and prednisone dosage was lowered until withdrawal about 6 months before our assessment.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Assessed at our center, the patient had a normal phenotype, and the examination revealed mild motor deficit of the abductors and hip extensors. Analytically, muscle enzymes remained high (CK 3645<span class="elsevierStyleHsp" style=""></span>IU/l). The immunological study was negative, including ANA, ENA, anti-synthetase panel and anti-hydroxymethylglutaryl-CoA reductase. An electromyogram showed signs of diffuse myopathic involvement predominant in the lower limbs. Muscle MRI showed atrophy of lumbar paravertebral, the gluteus minimus, posterior compartment of the thigh and triceps surae muscles (global in right and part of the left) and edema of both sartorial and quadriceps muscles. Therefore, a quadriceps muscle biopsy was repeated and showed variation in cell size with rounded atrophic fibers, increased endomysial connective tissue and necrosis with macrofagia and regeneration. Immunohistochemistry for MHC-I showed expression only in abnormal cells. Finding a necrotizing myositis in biopsy without data indicative of an immune-mediated pathogenesis, with signs of muscle atrophy in muscle MRI and in a patient with muscle symptoms since she was young, was suggestive of potential disferlinopathy. Confirmation was obtained determining the expression of dysferlin by Western-blot in peripheral blood monocytes of the patient, which turned out to be 18%, confirming the existence of a deficiency in dysferlin (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The genetic study detected mutation c.5509G>A, p.Asp1837Asn, g.71896321G>A, located in exon 49 in homozygosis. The pathogenicity of this mutation, described in the LOVD database, was tested with Alamut PolyPhen-2 and UniProtKB software.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Dysferlin is a protein of the ferlin family expressed in the smooth, cardiac and skeletal muscle, but also in monocytes, neutrophils, placenta, brain and kidney, whose main function is to repair the muscle cell membrane.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a> Patients with abnormalities in this protein have a defective muscle repair, which eventually leads to muscle degeneration. Hence the importance of an accurate diagnosis to avoid the damaging effect on the muscle caused by the glucocorticoids administered for treatment of an alleged PM.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Dysferlinopathy is typically manifested in the second or third decade of life and may have several clinical phenotypes. The best known are the girdle dystrophy 2B and Miyoshi distal myopathy (predominantly involving the posterior compartment of the leg), but there are other phenotypes, such as the anterior distal myopathy (with involvement of the anterior tibial and finger extensor and rapid progression with involvement of pelvic girdle, finger flexors and arm proximal muscles) or axially. There are also patients with dysferlinopathy who only have an asymptomatic hyper-CK-emia or are asymptomatic carriers.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a> However, the more this entity is understood, the less differences among the various phenotypes. Thus, our patient, who had a phenotype that could be classified as girdle dystrophy 2B, also had involvement of axial and posterior compartment of the leg (Nguyen “proximodistal” phenotype).<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">In a refractory PM the clinician is forced to reconsider the diagnosis, considering others such as girdle dystrophies, and especially disferlinopathy with possible inflammatory infiltrates in the muscle biopsy, as in the case of the first biopsy of this patient.<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">5–7</span></a> The correct diagnosis avoids unnecessary and risky immunosuppressive therapy. This case highlights the diagnostic usefulness of the Western-blot technique for determining the activity of dysferlin in peripheral blood monocytes as an alternative to immunohistochemical demonstration of dysferlin deficiency in muscular biopsy.<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">8,9</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Loureiro Amigo J, Gallardo E, Gallano P, Grau-Junyent JM. Disferlinopatía, una causa de falsa polimiositis refractaria. Med Clin (Barc). 2015;145:414–415.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 988 "Ancho" => 1216 "Tamanyo" => 73762 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Western-blot dysferlin in monocytes. P1 (patient reported): 18% dysferlin expression. P2 (myopathy control): 82% dysferlin expression (normal). C: healthy control.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J. Liu" 1 => "M. Aoki" 2 => "I. Illa" 3 => "C. Wu" 4 => "M. Fardeau" 5 => "C. Angelini" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/1682" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1998" "volumen" => "20" "paginaInicial" => "31" "paginaFinal" => "36" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9731526" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0055" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "E. Gallardo" 1 => "R. Rojas-Garcia" 2 => "N. de Luna" 3 => "A. Pou" 4 => "R.H. Brown Jr." 5 => "I. Illa" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Neurology" "fecha" => "2001" "volumen" => "57" "paginaInicial" => "2136" "paginaFinal" => "2138" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11739845" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0060" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Dysferlin and muscle membrane repair" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "R. Han" 1 => "K.P. Campbell" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.ceb.2007.07.001" "Revista" => array:6 [ "tituloSerie" => "Curr Opin Cell Biol" "fecha" => "2007" "volumen" => "19" "paginaInicial" => "409" "paginaFinal" => "416" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17662592" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0065" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "K. Nguyen" 1 => "G. Bassez" 2 => "M. Krahn" 3 => "R. Bernard" 4 => "P. Laforêt" 5 => "V. Labelle" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1001/archneur.64.8.1176" "Revista" => array:6 [ "tituloSerie" => "Arch Neurol" "fecha" => "2007" "volumen" => "64" "paginaInicial" => "1176" "paginaFinal" => "1182" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17698709" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0070" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Dysferlin deficiency treated like refractory polymyositis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "J. Vinit" 1 => "M. Samson" 2 => "J.B. Gaultier" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s10067-009-1273-1" "Revista" => array:6 [ "tituloSerie" => "Clin Rheumatol" "fecha" => "2010" "volumen" => "29" "paginaInicial" => "103" "paginaFinal" => "106" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19730931" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0075" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "A. Selva-O’Callaghan" 1 => "M. Labrador-Horrillo" 2 => "E. Gallardo" 3 => "A. Herruzo" 4 => "J.M. Grau-Junyent" 5 => "M. Vilardell-Tarres" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.nmd.2006.01.005" "Revista" => array:6 [ "tituloSerie" => "Neuromuscul Disord" "fecha" => "2006" "volumen" => "16" "paginaInicial" => "208" "paginaFinal" => "209" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16483775" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0080" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "C. Angelini" 1 => "W. Grisold" 2 => "V. Nigro" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Acta Myol" "fecha" => "2011" "volumen" => "30" "paginaInicial" => "185" "paginaFinal" => "187" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22616201" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0085" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "M. Ho" 1 => "E. Gallardo" 2 => "D. McKenna-Yasek" 3 => "N. de Luna" 4 => "I. Illa" 5 => "R.H. Brown Jr." ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Ann Neurol" "fecha" => "2002" "volumen" => "51" "paginaInicial" => "129" "paginaFinal" => "133" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11782994" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0090" "etiqueta" => "9" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "E. Gallardo" 1 => "N. de Luna" 2 => "J. Diaz-Manera" 3 => "R. Rojas-García" 4 => "L. Gonzalez-Quereda" 5 => "B. Flix" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1371/journal.pone.0029061" "Revista" => array:5 [ "tituloSerie" => "PLoS ONE" "fecha" => "2011" "volumen" => "6" "paginaInicial" => "e29061" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22194990" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000014500000009/v2_201605020201/S2387020616001856/v2_201605020201/en/main.assets" "Apartado" => array:4 [ "identificador" => "43309" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000014500000009/v2_201605020201/S2387020616001856/v2_201605020201/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020616001856?idApp=UINPBA00004N" ]
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