Anakinra-Associated Systemic Amyloidosis

First author: S Alehashemi

Journal : Arthritis and Rheumatology

Reference : DOI : 10.1002/art.42664

Link to article: https://pubmed.ncbi.nlm.nih.gov/37488949/

This article reports the first case of iatrogenic systemic amyloidosis due to prolonged use of anakinra, an interleukin-1 receptor antagonist (IL-1Ra), in a patient suffering from multisystem inflammatory disease of neonatal onset (NOMID).

After several years of treatment with daily injections, the patient developed nodules at the injection site, a nephrotic syndrome and amyloid deposits in various organs (skin, kidney, stomach). Mass spectrometry analysis identified these deposits as being due to recombinant anakinra protein, distinct from the endogenous version.

This case highlights a rare complication of injectable biologic treatments, exacerbated by high and prolonged doses. It highlights the importance of monitoring serum protein levels, varying injection sites, and considering a change of therapy if anakinra-related amyloidosis is diagnosed.

Résumé Article Amylose AA Anakinra.pdf

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7th Journée Maladies Rares en Hématologie & Médecine Interne, Necker

Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.

Valentin Lacombe, Jérome Hadjadj, Sophie Georgin-Lavialle, Christian Lavigne, Franck Geneviève, Olivier Kosmider

Summary :

The presence of vacuoles in myeloid and erythroid progenitor cells in bone marrow aspirates is a key feature of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. The mere observation of vacuolated progenitor cells is not specific to VEXAS syndrome; in this Viewpoint, we point out the causes to be considered in this situation. Vacuoles, in particular, can be observed in individuals with wild-type UBA1 and with persistent inflammatoryfeatures or myelodysplastic syndromes.

However, several clues support the diagnosis of VEXAS syndrome in the presence of vacuolated bone marrow progenitors: a high number of vacuolated progenitors and of vacuoles per cell, the predominance of vacuoles in early rather than late progenitors, and the vacuolisation of both myeloid and erythroid progenitors with predominance of myeloid ones. Some criteria derived from these observations have been proposed with great diagnostic performances. However, the absence or a low proportion of vacuolated cells should not prevent UBA1 gene sequencing.

Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.pdf

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