H. Charlanne

Lupus Anticoagulant-hypoprothrombinemia Syndrome: Report of 8 Cases and Review of the Literature

AbstractThe lupus anticoagulant-hypoprothrombinemia syndrome (LAHS)—the association of acquired factor II deficiency and lupus anticoagulant—is a rare disease drastically different from antiphospholipid syndrome in that it may cause predisposition not only to thrombosis but also to severe bleeding. We performed a retrospective study of 8 patients with LAHS referred to 6 French tertiary care centers between January 2003 and February 2011, and a literature review retrieving all related articles published between 1960 and April 2011. Including our 8 new cases, LAHS has been reported in 74 cases. The disease mostly occurs in young adults, with a female to male sex ratio of 1.4. Associated conditions mostly include autoimmune diseases such as systemic lupus erythematosus and infectious diseases. Bleeding is a frequent feature (89% of cases), while arterial and/or venous thrombosis is less common (13%). Factor II level is severely decreased at diagnosis (median value, 11%; range, 1%–40%). LAHS associated with autoimmune diseases is more persistent than LAHS associated with infection, and hemorrhagic complications are more common. Corticosteroids should be considered the first-line treatment, but the thrombotic risk strongly increases during treatment because of the improvement of factor II level. Despite the fact that 50% of patients develop severe bleeding, the mortality rate is <5%, after a median follow-up of 13 months (range, 0.5–252 mo). LAHS associated with autoimmune diseases should be diagnosed and managed carefully because the disease is persistent and severe hemorrhagic complications are common.

Effective immune restoration after immunosuppressant discontinuation in a lupus patient presenting progressive multifocal leukoencephalopathy

Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system with JC virus. Few cases have been described in lupus patients. We describe biopsy-proven PML in a lupus patient receiving mycophenolate mofetil and corticosteroids. Although the patient received no antiviral treatment, the polymerase chain reaction test for JC virus became negative in cerebrospinal fluid after immunosuppressant discontinuation and the patient survived. We discuss the restoration of immune efficiency after immunosuppressant discontinuation in this case and compare the clinical, radiological and histological features with the inflammatory PML form described in human immunodeficiency virus-infected patients.

Graft-versus-host disease-related polymyositis

Chronic graft-versus-host disease (GVHD) sometimes mimics autoimmune diseases. We report the case of a 39-year-old patient who presented atypical polymyositis without elevated creatinine phosphokinase, related to a chronic GVHD following interruption of immunosuppressive treatment. Treatment with cyclosporine and corticosteroids resulted in complete and sustained remission of the polymyositis. The symptoms of chronic GVHD-related polymyositis are indistinguishable from those of idiopathic polymyositis. The context of transplantation and a decrease or interruption of prophylaxis suggest the diagnosis of GVHD-related polymyositis, especially if other manifestations of GVHD are associated. A suitably adapted treatment (association of corticotherapy and cyclosporine) improves polymyositis, and in most cases, a normal clinical state is achieved even if the symptoms were severe.

Recurrent limb and facial oedema with R92Q mutation: A non-febrile late-onset tumour necrosis factor receptor-associated periodic syndrome (TRAPS)?

© 2018 Elsevier Mas rrent limb and facial ema with R92Q mutation: n-febrile late-onset tumour osis factor receptorheterozygous mutation, disclosing probable non-febrile lateonset TRAPS. TRAPS usually begins during the first two decades [1]. Some cases of late-onset TRAPS have been described, with a median age of 32 years [2]. However, only few patients with an onset after 45 years have been described [2,3]. These phenotype tio e en yp of tio Le tt e rs to th e e d i

Faut-il craquer pour du pop-corn ou pour Tony ?

Une jeune femme de 22 ans présentait des douleurs peliennes sans fièvre en décembre 2006. L’examen clinique tait normal en dehors d’une adénopathie axillaire gauche. Un remier bilan, réalisé en ville, retrouvait un syndrome inflammaoire modéré avec CRP à 16 mg/l et une discrète augmentation u CA 125. L’échographie abdominopelvienne montrait une ame liquidienne rétro-utérine. Un scanner abdominopelvien onfirmait l’ascite, surtout pelvienne, et notait une hépatoméalie homogène modérée. Au niveau thoracique, il existait un anglion de la loge de Baréty et quelques ganglions infracenimétriques de la fenêtre aortopulmonaire. Il était décidé de éaliser une cœlioscopie exploratrice qui retrouvait 250 ml de iquide sérohématique dont l’analyse révélait une cellularité aible à prédominance lymphocytaire (70 %) ; il n’y avait pas de ellules anormales ; l’examen direct et la culture étaient négatifs e même que la recherche de BK (direct et culture). Le reste de a cœlioscopie était normal. Nous étions alors en février 2007 et l’état général de la atiente s’altérait. Elle présentait maintenant des pics fébriles ccompagnés de douleurs abdominales ainsi qu’un amaigrisement de 3 kg. Il était donc réalisé une biopsie-exérèse de ’adénopathie axillaire gauche. L’anatomopathologiste mettait n évidence une transformation progressive des centres germiatifs avec architecture nodulaire ; la présence de cellules de ype popcorn cell évoquait un paragranulome hodgkinien nodu-