Provisional diagnostic criteria for systemic inflammatory trunkrecurrent acute macular eruption diagnosis

First author: Angèle Soria

Link to article: https://pubmed.ncbi.nlm.nih.gov/36426626/

We have identified a previously unclassified entity among systemic autoinflammatory diseases, which we named the SITRAME syndrome, short for "Systemic Inflammatory Trunk Recurrent Acute Macular Eruption." We report 16 adult patients who presented with recurrent, non-pruritic macular eruptions on the trunk and systemic inflammation. The median age at diagnosis was 55 years, affecting both men and women equally. All patients had elevated C-reactive protein (CRP), and 56% experienced fever during flare-ups. The disease typically began around age 35. During recurrences, the skin lesions were consistent in each patient, with a median duration of 3 days. Seven out of 16 patients reported more than 20 episodes over several decades, without worsening symptoms over time. Skin biopsies performed during flare-ups in 8 patients were uninformative, showing nonspecific results. No biological abnormalities were noted, except for elevated CRP during flare-ups. Genetic exploration using next-generation sequencing in 10 of the 16 patients did not identify any specific mutations in known autoinflammatory disease genes as of 2022. Continuous colchicine treatment was effective in 6 patients, reducing the number and duration of flare-ups.

Following this publication, we aim to gather patients internationally and attempt to determine the cause and treatment of this syndrome. You can contact us for advice at angele.soria@aphp.fr or sophie.georgin-lavialle@aphp.fr, or make an appointment through our website via our secretariat. Dedicated appointment slots are available for this syndrome.

Provisional diagnostic criteria for systemic inflammatory trunk recurrent acute

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French practical guidelines for the diagnosis and management of AA amyloidosis

S. Georgin-Lavialle, L. Savey, D. Buob , J.-P. Bastard, S. Fellahi , A. Karras , J.-J. Boffa, G. Grateau & collaborators (see complete list in the PDF)

Link to article: https://doi.org/10.1016/j.revmed.2022.12.004

Abstract

AA amyloidosis is secondary to the deposit of excess insoluble Serum Amyloid A (SAA) protein fibrils. AA amyloidosis complicates chronic inflammatory diseases, especially chronic inflammatory rheumatisms such as rheumatoid arthritis and spondyloarthritis; chronic infections such as tuberculosis, bronchectasia, chronic inflammatory bowel diseases such as Crohn's disease; and auto-inflammatory diseases including familial Mediterranean fever. This work consists of the French guidelines for the diagnosis workup and treatment of AA amyloidosis. We estimate in France between 500 and 700 cases in the whole French population, affecting both men and women. The most frequent organ impaired is kidney which usually manifests by oedemas of the lower extremities, proteinuria, and/or renal failure. Patients are usually tired and can display digestive features anf thyroid goiter. The diagnosis of AA amyloidosis is based on detection of amyloid deposits on a biopsy using Congo Red staining with a characteristic green birefringence in polarized light. Immunohistochemical analysis with an antibody directed against Serum Amyloid A protein is essential to confirm the diagnosis of AA amyloidosis. Peripheral inflammatory biomarkers can be measured such as C Reactive protein and SAA. We propose an algorithm to guide the etiological diagnosis of AA amyloidosis. The treatement relies on the etiologic treatment of the undelying chronic inflammatory disease to decrease and/or normalize Serum Amyloid A protein concentration in order to stabilize amyloidosis. In case of renal failure, dialysis or even a kidney transplant can be porposed. Nowadays, there is currently no specific treatment for AA amyloidosis deposits which constitutes a therapeutic challenge for the future.

© 2022 The Author(s). Published by Elsevier Masson SAS on behalf of Société Nationale Française de Médecine Interne (SNFMI).

2023 French recommandations for AA Amyloidosis. RMI

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Familial Mediterranean Fever (FMF): A booklet for patients and their families

Pr Sophie GEORGIN-LAVIALLE, Dr Véronique HENTGEN, Dr Rim BOURGUIBA, Pr Isabelle KONE-PAUT, Pr Isabelle TOUITOU, Pr Gilles GRATEAU, Dr Léa SAVEY.

The CEREMAIA coordinated the writing of the booklet on Familial Mediterranean Fever, which is available and can be downloaded for free in PDF format on our website for patients, their families, and close relatives.

Download the booklet