{"id":1981,"date":"2013-10-01T01:00:00","date_gmt":"2013-10-01T00:00:00","guid":{"rendered":"https:\/\/angh.net\/abstracts\/une-hyperferritinemie-isolee\/"},"modified":"2018-10-20T18:40:08","modified_gmt":"2018-10-20T16:40:08","slug":"une-hyperferritinemie-isolee","status":"publish","type":"post","link":"https:\/\/angh.net\/abstracts\/une-hyperferritinemie-isolee\/","title":{"rendered":"Une hyperferritin\u00e9mie isol\u00e9e"},"content":{"rendered":"<p><strong>2013<\/strong><\/p>\n<p><em>S\u00e9verine Hommel (1), Magali Picon (1), Serge Erlinger (1)<br \/>\n(1) Aix en Provence<\/em><\/p>\n<p><strong>H\u00e9patologie <\/strong>&#8211; \u00a02013-05-14 &#8211;\u00a0CO &#8211;<\/p>\n<p>________________________________<\/p>\n<p>Nous rapportons le cas d&rsquo;une patiente ag\u00e9e de 32 ans consultant pour bilan d&rsquo;une hyperferritin\u00e9mie isol\u00e9e.<br \/>\nCette patiente pr\u00e9sente comme seul ant\u00e9c\u00e9dent un tabagisme actif \u00e0 3 PA. Elle ne prend aucun traitement en dehors d&rsquo;une contraception orale. Son p\u00e8re est suivi pour une cirrhose secndaire \u00e0 un d\u00e9ficit homozygote en alpha 1 antitrypsine et en cours de bilan pr\u00e9transplantation h\u00e9patique.<br \/>\nLa patiente se plaint essentiellement d&rsquo;une asth\u00e9nie chronique.<br \/>\nL&rsquo;examen clinique est normal. On ne note aucun surpoids.<br \/>\nUn bilan biologique demand\u00e9 par son m\u00e9decin traitant montre une hyperferritin\u00e9mie isol\u00e9e autour de 600 \u00b5g\/l recontrol\u00e9e \u00e0 plusieurs reprises. Le bilan h\u00e9patique ainsi que l&rsquo;h\u00e9mogramme sont normaux.<br \/>\nLe bilan est alors compl\u00e9t\u00e9 par un dosage du coefficient de saturation de la sid\u00e9rophiline (CSS) normal &lt; 45%, par le dosage d&#039;alpha 1 antitrypsine abaiss\u00e9 en rapport avec une mutation h\u00e9t\u00e9rozygote (pGlu342 Lys)et par un bilan inflammatoire s&#039;av\u00e9rant normal. Il n&#039;existe aucune insulinor\u00e9sistance ni anomalie du bilan glucidolipidique. Les s\u00e9rologies virales (VHB, VHC) reviennent n\u00e9gatives de m\u00eame que les anticorps antitissus. Seuls sont retrouv\u00e9s \u00e9lev\u00e9s les anticorps antinucl\u00e9aires, positifs au 1\/320\u00b0, mouchet\u00e9s. Le dosage de c\u00e9rul\u00e9oplasmine est normal de m\u00eame que le dosage des porphyrines urinaires.<br \/>\nMalgr\u00e9 la normalit\u00e9 du CSS, une recherche de mutation du g\u00e8ne HFE est effectu\u00e9e par le m\u00e9decin traitant, s&#039;av\u00e9rant n\u00e9gative.<br \/>\nDes examens morphologiques sont r\u00e9alis\u00e9s: l&#039;\u00e9chographie abdominale objective une spl\u00e9nom\u00e9galie homog\u00e8ne \u00e0 179 mm sans h\u00e9patom\u00e9galie associ\u00e9e ni st\u00e9atose et sans signe d&#039;hypertension portale, spl\u00e9nom\u00e9galie confirm\u00e9e par un scanner abdominal retrouvant \u00e9galement des ad\u00e9nopathies r\u00e9trop\u00e9riton\u00e9ales et m\u00e9sent\u00e9riques.L&#039;IRM h\u00e9patique montre une concentration h\u00e9patique normale en fer ainsi que la spl\u00e9nom\u00e9galie homog\u00e8ne.<br \/>\nDevant cette hyperferritin\u00e9mie associ\u00e9e \u00e0 une asth\u00e9nie et \u00e0 la spl\u00e9nom\u00e9galie, est \u00e9voqu\u00e9 le diagnostic de Maladie de Gaucher.<br \/>\nUn dosage de l&#039;activit\u00e9 de la b\u00e9taglucuroc\u00e9r\u00e9brosidase est demand\u00e9, revenant abaiss\u00e9 avec parall\u00e8lement une \u00e9l\u00e9vation de l&#039;activit\u00e9 plasmatique de la chitotriosidase. L&#039;angiotensine convertase est \u00e9lev\u00e9e \u00e0 1.5 N. Une recherche de mutation dans le cadre d&#039;une maladie de Gaucher probable est entreprise confirmant l&#039;existence de 2 mutations h\u00e9t\u00e9rozygotes faux sens: pN370s et pL444P.<br \/>\nLe diagnostic de Maladie de Gaucher de type I est alors confirm\u00e9. Le bilan est compl\u00e9t\u00e9 par une ost\u00e9odensitom\u00e9trie osseuse, une IRM du rachis, f\u00e9mur, bassin et tibia s&#039;av\u00e9rant normaux.<br \/>\nLe dossier est discut\u00e9 en RCP \u00e0 l&#039;hopital Beaujon (Dr BELMATOUG, CTEG) et devant le caract\u00e8re paucisympatomtique de la patiente, une simple surveillance semestrielle est mise en place sans suppl\u00e9mentation enzymatique n\u00e9cessaire pour l&#039;instant.<br \/>\nLa Maladie de Gaucher, bien qu&#039;\u00e9tant une maladie rare doit \u00eatre \u00e9voqu\u00e9e devant toute hyperferritin\u00e9mie isol\u00e9e dont le bilan \u00e9tiologique exhaustif revient n\u00e9gatif, et \u00e0 fortiori s&#039;il existe une spl\u00e9nom\u00e9galie associ\u00e9e.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>2013 S\u00e9verine Hommel (1), Magali Picon (1), Serge Erlinger (1) (1) Aix en Provence H\u00e9patologie &#8211; \u00a02013-05-14 &#8211;\u00a0CO &#8211; ________________________________ Nous rapportons le cas d&rsquo;une patiente ag\u00e9e de 32 ans consultant pour bilan d&rsquo;une hyperferritin\u00e9mie isol\u00e9e. Cette patiente pr\u00e9sente comme seul ant\u00e9c\u00e9dent un tabagisme actif \u00e0 3 PA. Elle ne prend aucun traitement en dehors [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[3],"tags":[24],"class_list":["post-1981","post","type-post","status-publish","format-standard","hentry","category-hepatologie","tag-24"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Une hyperferritin\u00e9mie isol\u00e9e - Abstracts des congr\u00e8s de l&#039;ANGH<\/title>\n<meta name=\"description\" content=\"ANGH R\u00e9sum\u00e9s congr\u00e8s H\u00e9patologie Gastroent\u00e9romogie Hepatology Gastroenterology Etudes cliniques Clinical study\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/angh.net\/abstracts\/une-hyperferritinemie-isolee\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Une hyperferritin\u00e9mie isol\u00e9e - 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