Letter to the Editor
A Case Report of Gaucher Disease
Enfermedad de Gaucher: a propósito de un caso
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"saludo" => "To the Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "242" "paginaFinal" => "243" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "María Mar Herráez-Albendea, Eva Gloria Fernández-Cofrades, María Castillo Jarilla-Fernández, Francisco Jiménez-Burgos" "autores" => array:4 [ 0 => array:4 [ "nombre" => "María Mar" "apellidos" => "Herráez-Albendea" "email" => array:1 [ 0 => "marherraez@gmail.com" ] "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" => "Eva Gloria" "apellidos" => "Fernández-Cofrades" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "María Castillo" "apellidos" => "Jarilla-Fernández" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "Francisco" "apellidos" => "Jiménez-Burgos" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Hematología, Hospital de Santa Bárbara, Puertollano, Ciudad Real, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Medicina Interna, Hospital de Santa Bárbara, Puertollano, Ciudad Real, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, Hospital de Santa Bárbara, Puertollano, Ciudad Real, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Enfermedad de Gaucher: a propósito de un caso" ] ] "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" => 1309 "Ancho" => 1738 "Tamanyo" => 341174 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Gaucher cells.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Gaucher disease (GD), described in 1882 by Philippe Charles Ernest Gaucher, is a progressive, rare hereditary disease, with an autosomal recessive inheritance pattern.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> Included in the group of lysosomal storage diseases, it is characterized as being the most prevalent, with an estimated frequency of 1 per 50,000 to 1 per 100,000 population, with the exception of the Ashkenazi Jewish ethnicity in which the incidence is estimated to be 1 per 850 births.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,3</span></a> It produces a deficiency in the activity of the enzyme acid β-glucosidase (GBA), provoking an accumulation of glucocerebroside in the lysosomes of different cells,<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> causing cytopenias, hepatosplenomegaly, changes in the central nervous system (CNS) and skeletal manifestations, the latter being one of the most disabling aspects. Depending on the clinical expression, different types can be distinguished: type 1 (adult non-neuronopathic), the most common form, occurring frequently in Ashkenazi Jews, with variable manifestations, and not involving the CNS; type 2 (acute neuronopathic), infrequent, with no ethnic-related dominance, fatal after birth and involvement of the CNS; and type 3 (subacute or chronic neuronopathic),<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> beginning during childhood, adolescence or adulthood, with involvement of the CNS. Given the variety of conditions associated with bone pain, we consider it appropriate to report the case of our patient.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient was a 53-year-old man with no significant family or personal history. He was being studied because of neutropenia and thrombocytopenia with a duration of 10 years, as well as bone pain that had started 3 years earlier. He reported no hemorrhagic diathesis, infections or abdominal pain. Physical examination revealed splenomegaly, but the rest was normal. The results of laboratory tests included a leukocyte count of 3400<span class="elsevierStyleHsp" style=""></span>mm<span class="elsevierStyleSup">3</span>, neutrophils at 1200/mm<span class="elsevierStyleSup">3</span> and platelets at 93,000<span class="elsevierStyleHsp" style=""></span>mm<span class="elsevierStyleSup">3</span>; findings regarding hemoglobin, reticulocytes, coagulation, serum electrolytes, liver function, vitamin B<span class="elsevierStyleInf">12</span>, folic acid, tumor markers (carcinoembryonic antigen, alpha-fetoprotein, CA 19-9, CA 15-3, prostate-specific antigen), β<span class="elsevierStyleInf">2</span>-microglobulin, rheumatoid factor, erythrocyte sedimentation rate, antinuclear antibodies, immunoglobulins, protein profile and lymphocyte populations were normal. Serologic tests for hepatitis B and C viruses and human immunodeficiency virus were negative. Plain radiography of distal femur and thoracolumbar spine were normal. However, lumbar magnetic resonance showed a homogeneous hypointense signal in the vertebral bodies on T1 and T2-weighted sequences. Splenomegaly was confirmed by abdominal ultrasound and osteoporosis by bone densitometry (T-score femur: −2.9 standard deviations (SD); T-score spine: −2.8 SD). Bone marrow aspirate/biopsy (BMA/BMB) detected cells with eccentric nucleus, basophilic cytoplasm with the appearance of tissue paper, suggestive of Gaucher cells (GC) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The GBA enzyme activity was determined in leukocytes by spectrofluorometry, which confirmed that it was lacking. The molecular genetic study showed double heterozygosity for the L444P and p.Tyr244Cys mutations.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">This observation constitutes a representative example of the clinical, biochemical and genetic characteristics of type 1 GD.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> The fact that our patient had a history of years of bone pain can make diagnosis more difficult, when these manifestations are associated with other signs of the disease like cytopenias or organomegaly. Extra-articular manifestations are useful for reaching a correct diagnosis, avoiding incorrect diagnoses of inflammatory and/or autoimmune diseases. The BMA confirmed GD, which is accountable for an accumulation that generates substances responsible for bone resorption, producing pain, deformity and functional disability.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> Radiographic examination reveals manifestations such as abnormal bone remodeling (disclosing the Erlenmeyer flask deformity, which was not found in our patient), spontaneous fractures, osteopenia, osteonecrosis and osteolysis. However, the development of osteoporosis of unknown cause, whether or not it is associated with thrombocytopenia and splenomegaly, should lead us to suspect GD. These findings were significant and enabled the quantification of GBA activity, and led us to request a genetic study to confirm the disease.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> A high index of suspicion and initial biochemical studies are needed to verify the diagnosis and begin enzyme replacement therapy to revert, establish and improve the clinical prospects of the patient.</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: Herráez-Albendea MM, Fernández-Cofrades EG, Jarilla-Fernández MC, Jiménez-Burgos F. Enfermedad de Gaucher: a propósito de un caso. Reumatol Clin. 2017;13:242–243.</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" => 1309 "Ancho" => 1738 "Tamanyo" => 341174 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Gaucher cells.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Gaucher disease: clinical, biological and therapeutic aspects" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "A. Dandana" 1 => "S. Ben Khelifa" 2 => "H. Chahed" 3 => "A. Miled" 4 => "S. 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Zimran" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/S0140-6736(01)05490-3" "Revista" => array:6 [ "tituloSerie" => "Lancet" "fecha" => "2001" "volumen" => "358" "paginaInicial" => "324" "paginaFinal" => "327" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11498237" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0055" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Patients with type 1 Gaucher disease in Spain: a cross-sectional evaluation of health status" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "P. Giraldo" 1 => "J. Pérez-López" 2 => "R. Núñez" 3 => "R.F. De la Puebla" 4 => "E. Luño" 5 => "S. Saura-Grau" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.bcmd.2015.10.001" "Revista" => array:6 [ "tituloSerie" => "Blood Cells Mol Dis" "fecha" => "2016" "volumen" => "56" "paginaInicial" => "23" "paginaFinal" => "30" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26603719" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0060" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Gaucher disease: haematological presentations and complications" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "A.S. Thomas" 1 => "A. Mehta" 2 => "D.A. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 20 | 17 | 37 |
| 2024 October | 119 | 45 | 164 |
| 2024 September | 127 | 47 | 174 |
| 2024 August | 121 | 39 | 160 |
| 2024 July | 107 | 30 | 137 |
| 2024 June | 103 | 43 | 146 |
| 2024 May | 148 | 50 | 198 |
| 2024 April | 126 | 33 | 159 |
| 2024 March | 95 | 39 | 134 |
| 2024 February | 113 | 33 | 146 |
| 2024 January | 82 | 39 | 121 |
| 2023 December | 96 | 28 | 124 |
| 2023 November | 102 | 53 | 155 |
| 2023 October | 107 | 31 | 138 |
| 2023 September | 88 | 37 | 125 |
| 2023 August | 92 | 12 | 104 |
| 2023 July | 89 | 39 | 128 |
| 2023 June | 84 | 31 | 115 |
| 2023 May | 85 | 26 | 111 |
| 2023 April | 69 | 15 | 84 |
| 2023 March | 110 | 36 | 146 |
| 2023 February | 72 | 39 | 111 |
| 2023 January | 86 | 21 | 107 |
| 2022 December | 91 | 35 | 126 |
| 2022 November | 112 | 31 | 143 |
| 2022 October | 96 | 26 | 122 |
| 2022 September | 68 | 37 | 105 |
| 2022 August | 98 | 40 | 138 |
| 2022 July | 90 | 38 | 128 |
| 2022 June | 166 | 40 | 206 |
| 2022 May | 98 | 39 | 137 |
| 2022 April | 111 | 53 | 164 |
| 2022 March | 95 | 63 | 158 |
| 2022 February | 97 | 35 | 132 |
| 2022 January | 110 | 54 | 164 |
| 2021 December | 93 | 42 | 135 |
| 2021 November | 99 | 59 | 158 |
| 2021 October | 277 | 80 | 357 |
| 2021 September | 222 | 47 | 269 |
| 2021 August | 72 | 59 | 131 |
| 2021 July | 83 | 50 | 133 |
| 2021 June | 118 | 25 | 143 |
| 2021 May | 95 | 55 | 150 |
| 2021 April | 177 | 120 | 297 |
| 2021 March | 132 | 43 | 175 |
| 2021 February | 111 | 33 | 144 |
| 2021 January | 115 | 15 | 130 |
| 2020 December | 102 | 33 | 135 |
| 2020 November | 108 | 53 | 161 |
| 2020 October | 57 | 22 | 79 |
| 2020 September | 101 | 41 | 142 |
| 2020 August | 55 | 19 | 74 |
| 2020 July | 32 | 18 | 50 |
| 2020 June | 52 | 29 | 81 |
| 2020 May | 36 | 25 | 61 |
| 2020 April | 44 | 23 | 67 |
| 2020 March | 12 | 3 | 15 |
| 2020 February | 2 | 0 | 2 |
| 2019 May | 1 | 0 | 1 |
| 2018 May | 4 | 3 | 7 |
| 2018 April | 64 | 7 | 71 |
| 2018 March | 102 | 7 | 109 |
| 2018 February | 45 | 6 | 51 |
| 2018 January | 56 | 6 | 62 |
| 2017 December | 36 | 12 | 48 |
| 2017 November | 28 | 15 | 43 |
| 2017 October | 35 | 11 | 46 |
| 2017 September | 36 | 10 | 46 |
| 2017 August | 46 | 21 | 67 |
| 2017 July | 43 | 38 | 81 |
| 2017 June | 5 | 8 | 13 |
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