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Characteristics of familial Mediterranean fever after 65 years of age

First author: François Rodrigues et al.


Caractéristiques de la fièvre méditerranéenne familiale après 65 ans

              Familial Mediterranean Fever (FMF) is an autosomal recessive disease caused by mutations in MEFV, characterized by recurrent febrile attacks. The natural history of the disease, which began in children and had a high mortality rate in the last century, is unknown in people over 65.


        This retrospective study included the records of 59 patients with FMF followed at Hôpital Tenon (Paris, France), representing 9% of the total number of patients followed for FMF. The median age was 73 years. Although all patients were treated with colchicine, the study population, born in the 1940s-1950s, had a late diagnosis (median age 28 years) and a delayed initiation of colchicine (35 years, median year of introduction 1980). 73% of patients had an elevated intercritical CRP on colchicine, and 37% had to receive an inteleukin-1 inhibitor, with good tolerability. The prevalence of AA amyloidosis was 10%. The most frequent comorbidities were cardiovascular (59% of patients) and, unexpectedly, hepatic (37%), with a high frequency of non-alcoholic, non-viral cirrhosis (27%) and no associated diabetes, suggesting a link with FMF. Nine patients (15%) had died at the time of collection, two from complications of FMF, two from hepatic cirrhosis, and five from infections.


             In conclusion, the study indicates that FMF can remain active after the age of 65, motivating specialized lifelong follow-up with CRP monitoring between attacks, as well as the prescription of biotherapy in the event of unsatisfactory disease control.




 
 
 

Provisional diagnostic criteria for systemic inflammatory trunk recurrent acute macular eruption diagnosis (SITRAME)

Updated: Mar 5

First author: Angèle Soria

SITRAME

Summary:


The Systemic Inflammatory Trunk Recurrent Acute Macular Eruption (SITRAME) syndrome is a recently described sporadic autoinflammatory syndrome in adults. It is characterized by recurrent non-pruritic macular eruptions on the trunk, accompanied by at least one documented episode of systemic inflammation with elevated C-reactive protein (CRP) levels during flares. The eruptions have a fixed topography and appear rapidly with confluent exanthem. They always involve at least the trunk, sparing certain areas of the skin with clear demarcation. The median duration of the eruptions was 3 days (range: 2–7 days).


No specific genetic mutation has been associated with the SITRAME syndrome. The objective of this study was to define diagnostic criteria to improve its identification. Four major criteria were defined as being present in all the patients studied: systemic inflammation with CRP > 5 mg/mL during a skin flare, non-pruritic macular trunk eruption, recurrence with at least three different episodes, and acute flares lasting less than 8 days. All four major criteria are mandatory for the diagnosis of SITRAME. Four minor criteria were present in at least half of the patients. At least one minor criterion is required for the diagnosis. Additionally, exclusion criteria include another monogenic autoinflammatory disease, an evolving neoplasm, or an autoimmune disease.


Histopathological evaluation showed limited specificity, characterized by a markedly poor dermal infiltrate, mainly with lymphocytes and minimal spongiosis. This shows that skin biopsy is not a discriminating diagnostic criterion. When comparing the major criteria of SITRAME with those of other adult-onset autoinflammatory syndromes, such as Schnitzler's syndrome and adult-onset Still's disease, none of the CAPS or adult-onset Still's disease patients met the major criteria for SITRAME.


The diagnosis of SITRAME syndrome requires the presence of four mandatory major criteria, at least one minor criterion, and the exclusion criteria.




 
 
 

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)



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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).



 
 
 
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