Autoimmune and autoinflammatory diseases
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Autoinflammatory diseases and AA amyloidosis

Autoinflammatory diseases are rare disorders of the innate immune system, in which inflammation flares on its own, without autoantibodies. Their long-term concern is AA amyloidosis, a deposition of protein in the organs, chiefly the kidney. The FAI²R record for the Saint-Antoine constituent site states that this site is coordinated by Prof. Arsène Mekinian; the field displayed for that site is centred on inflammation associated with blood disorders. He has published nothing on familial Mediterranean fever or on AA amyloidosis themselves.

What is an autoinflammatory disease?

Autoinflammatory diseases are rare diseases of the innate immune system. Unlike autoimmune diseases, they are not accompanied by autoantibodies directed against the body: inflammation is triggered on its own, in flares, often with fever, abdominal or joint pain, and a rise in inflammatory markers in the blood. Familial Mediterranean fever is the most frequent of those caused by the mutation of a single gene, the MEFV gene, which encodes a protein called pyrin. Other forms appear in adulthood instead, without being hereditary, and are recognised first by the repetition of inflammatory flares with no infectious or tumoural cause found.

What is at stake in long-term follow-up is a complication: inflammatory amyloidosis, known as AA amyloidosis. When inflammation remains active for years, a protein produced in excess by the liver, serum amyloid A protein, is deposited as insoluble fibrils in the organs, mainly the kidney, where it causes a leak of protein into the urine and then renal failure. The word amyloidosis covers several different diseases that must not be confused: AA amyloidosis comes from chronic inflammation, AL amyloidosis comes from immunoglobulin light chains produced by a blood disorder, ATTR amyloidosis comes from yet another protein, transthyretin. They have neither the same causes nor the same treatments.

His work on this subject

It must be said at the outset, because the page would lose its value if it were left unsaid: Arsène Mekinian has no indexed article on familial Mediterranean fever, on the MEFV gene, on colchicine resistance or on AA amyloidosis. His place in this field does not rest on publications about these two diseases. It rests, on the one hand, on a role in the national organisation of care and, on the other, on published work concerning neighbouring autoinflammatory diseases of adults. Both are described below, distinguishing in each case what is his and what belongs to the centre.

The role first, and it must be said at once that the sources do not agree with one another. The FAI²R network record is entitled "Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire : Site constitutif A.MEKINIAN" (reference centre for autoinflammatory diseases and inflammatory amyloidosis: A.MEKINIAN constituent site), gives as its location "Paris (AP-HP, Saint-Antoine)", displays the subheading "Centre coordonnateur" (coordinating centre) and writes beneath it: "Le Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CeRéMAIA) situé à l'hôpital Saint-Antoine, est coordonné par le Pr Arsène MEKINIAN" (the reference centre for autoinflammatory diseases and inflammatory amyloidosis located at Saint-Antoine Hospital is coordinated by Prof. Arsène Mekinian) (page consulted on 08/09/2026, checked again word for word on 14/09/2026, text unchanged). The centre's own site, ceremaia.fr, says something else: its teams page names "Pr Isabelle Koné-Paut, coordinatrice" and lists Prof. Arsène Mekinian there for the Saint-Antoine site, department of internal medicine, adults. This page reports both sources without settling between them: the title of the FAI²R record says "constituent site", its body says "coordinated by Prof. Arsène Mekinian", and ceremaia.fr gives the centre a different coordinator. The simplest reading is that "coordinated" refers to the coordination of the Saint-Antoine site and not of the national centre, but neither source says so, and only the person concerned can say which wording is the right one.

On the size of the centre, the same check leads to correcting a figure and to citing the page that actually carries it. It is the teams page of ceremaia.fr that writes "Les 7 sites sont experts des maladies auto-inflammatoires (MAI)" (the 7 sites are experts in autoinflammatory diseases) and that presents those seven sites one by one: Bicêtre, Lyon, Montpellier, Pitié-Salpêtrière, Saint-Antoine, Tenon and Versailles. The sites page displays the same seven sites and then, set apart from them by a formatting of their own, nineteen centres de compétence: Avicenne, Bordeaux, Caen, Clermont-Ferrand, Dijon, Grenoble, Lille, Marseille, Nancy, Nantes, Nice, Nîmes, Poitiers, Reims, Rennes, Strasbourg, Toulouse, Tours and Villefranche-sur-Saône, that is twenty-six establishments listed in all. Seven is therefore indeed the number of sites of the reference centre, but it is the teams page, and not the sites page, that states it (pages consulted on 14/09/2026).

One clarification is needed, and it comes from that same teams page: the field displayed for his site is "VEXAS, hématopoïèse clonale et inflammation" (VEXAS, clonal haematopoiesis and inflammation) and "manifestations inflammatoires associées aux hémopathies" (inflammatory manifestations associated with haematological malignancies). Familial Mediterranean fever and amyloidosis are, on that page, the fields displayed for another site of the same centre, that of Tenon Hospital. His site is therefore a constituent site of a reference centre whose title covers autoinflammatory diseases and inflammatory amyloidosis, with a field of its own centred on inflammation associated with blood disorders.

The published work next. The closest to the subject of this page concerns undifferentiated autoinflammatory diseases in older people. A French retrospective multicentre study by the MINHEMON group, published in the Journal of Clinical Medicine in 2021, brought together 26 patients with signs of undifferentiated systemic autoinflammatory disease compatible with adult-onset Still's disease and associated with a myelodysplastic syndrome or a chronic myelomonocytic leukaemia, compared with a control group of 104 patients with these same haematological disorders. Median age at first signs was 70.5 years, with a male predominance of 4 to 1. Only five patients met the criteria for confirmed adult-onset Still's disease. Of 18 patients tested, 6 carried a somatic mutation of the UBA1 gene. Seven patients developed acute myeloid leukaemia and twelve died over a median follow-up of 2.5 years. High-dose corticosteroid therapy produced a response in 13 of the 16 patients treated, and azacitidine a complete or partial response of the systemic signs in 10 of the 12 patients treated, that is 83%. Arsène Mekinian is the 25th and last of the 25 named authors of this study (reference 1).

Two other pieces of work concern the use of biologic therapies, including interleukin-1 inhibitors, in inflammatory diseases of adults that are not familial Mediterranean fever. A French national retrospective study published in the Annals of the Rheumatic Diseases in 2018 analysed 41 patients with relapsing polychondritis exposed to 105 lines of biologic therapy, including 60 anti-TNF, 17 tocilizumab, 15 anakinra, 7 rituximab and 6 abatacept. The overall response rate during the first six months of exposure was 62.9%, the complete response rate 19.0%. Adverse events were mainly infections, 42 in number. Biologic therapies were stopped in 73.3% of cases, for insufficient efficacy in 34.3%, for loss of efficacy in 18.1% and for an adverse event in 20.9%, this last cause being the most frequent with anakinra, at 46.7% (reference 2). A second piece of work, published in Seminars in Arthritis and Rheumatism in 2018, describes a case of adult-onset Still's disease revealed during a pregnancy, together with a review of 19 cases from the literature; it is an isolated observation and not a series. Arsène Mekinian is its 2nd of 7 named authors and the corresponding author (reference 3).

His most recent contribution on interleukin-1 inhibitors in an adult autoinflammatory disease concerns VEXAS syndrome, which is the subject of a separate page on this site and is not developed here. An international multicentre study published in Arthritis & Rheumatology in 2026 compared anakinra and canakinumab in 47 patients from France, Israel and Italy, all men, of whom 44 were treated with anakinra and 9 with canakinumab, 6 having received both at different time points; the overall response at three months was 22% with anakinra and 78% with canakinumab. Arsène Mekinian is the 36th and last of the 36 named authors (reference 4). VEXAS syndrome is an acquired autoinflammatory disease of adults, linked to a somatic mutation of the UBA1 gene: it is not familial Mediterranean fever, and these results do not transfer to it.

On amyloidosis, finally, one must be exact. His articles on amyloidosis all concern AL amyloidosis, and not AA amyloidosis. A retrospective study published in The American Journal of Medicine in 2010, of which he is the 1st of 12 named authors, analysed 29 consecutive patients with AL amyloidosis who had undergone cardiac magnetic resonance imaging: this was positive in 11 patients, that is 38%, and overall survival of the patients with positive imaging was 28%, 14% and 14% at one, two and five years, against 84%, 77% and 45% in patients with negative imaging (p = 0.002); on multivariate analysis, only congestive heart failure remained associated with survival (reference 5). A French multicentre study published in Amyloid in 2012, of which he is the 1st of 10 named authors and the corresponding author, described 18F-FDG positron emission tomography in 10 patients with AL amyloidosis, of median age 62 years: the examination was positive in 7 patients, that is 70%, with a median uptake value of 6.5, and uptake was concordant with known organ involvement in 6 cases out of 7 (reference 6). Neither of these two studies says anything about AA amyloidosis, which is a different disease.

A single document attaches his name to familial Mediterranean fever, and it does so through his other field of work, pregnancy: an abstract accepted at the EULAR 2025 congress, published in the supplement of the Annals of the Rheumatic Diseases, concerning a prospective study of 117 pregnancies during autoinflammatory diseases, of which 79 with familial Mediterranean fever. He is its 10th of 22 authors. This document is a congress abstract and not an article: it is not indexed in PubMed, it has not been peer-reviewed in the form of an article, and its content beyond the title has not been read (reference 7).

Where care is organised

Department of internal medicine of Saint-Antoine Hospital (AP-HP, Sorbonne Université), a constituent site of the reference centre for autoinflammatory diseases and inflammatory amyloidosis (CeRéMAIA), within the FAI²R rare disease health network. CeRéMAIA has seven sites, to which nineteen centres de compétence are added; national coordination is provided from Bicêtre Hospital by Prof. Isabelle Koné-Paut (pages `equipes.php` and `sites.php` of ceremaia.fr consulted on 14/09/2026).

The centre's record published by FAI²R names the referring physicians of the site. In internal medicine at Saint-Antoine: Prof. Arsène Mekinian, Prof. Olivier Fain, Dr Vincent Jachiet, Dr Jérôme Hadjadj, Dr Sébastien Rivière, Dr Delphine Gobert, Dr Maria Chauchard, Dr Noémie Abisror, Dr Amir Adedjouma, Dr Marjolaine Morgand, Dr Étienne Ghrenassia. The site's network brings in rheumatology (Prof. Berenbaum, Prof. Sellam), neurology (Prof. Alamowitch), cardiology (Prof. Cohen), haematology (Prof. Mohty, Prof. Coppo) and intensive care (Prof. Guidet, Prof. Maury) in the same hospital; nephrology and dialysis (Prof. Boffa, Dr Fessi), nephrological emergencies and transplantation (Prof. Rondeau), dermatology (Prof. Barbaud, Dr Chasset) and respiratory medicine (Prof. Cadranel) at Tenon Hospital; obstetrics and gynaecology (Prof. Kayem, Dr Cheloufi) at Trousseau Hospital; ophthalmology (Dr Hérin) at the Centre national d'ophtalmologie des Quinze-Vingts. The list of referring physicians was read again on the FAI²R record on 14/09/2026: it is unchanged, except that Prof. Rondeau and Dr Hérin, who appear on it, were missing from this page.

The role of nephrology in this list is not incidental: AA amyloidosis presents first with proteinuria, and it is the kidney that determines prognosis. The diagnosis of amyloidosis rests on histological proof, that is the microscopic examination of a fragment of tissue, with typing of the deposited protein, since management differs entirely depending on whether it is AA or AL amyloidosis. The reference centre is also the setting in which the national diagnostic and care protocols are drawn up that serve as a common document for French teams.

What is not known

First the limits of his own work, which are real. The 2021 study on undifferentiated autoinflammatory diseases is retrospective and concerns 26 patients; its control group of 104 patients serves to situate how often these presentations occur, not to compare treatments, so that the response to azacitidine in 10 patients out of 12 rests on twelve treated patients with no comparison arm. The 2018 study on relapsing polychondritis is also retrospective, in 41 patients, without a comparator group and without random allocation of the biologic therapies. The 2018 work on Still's disease during pregnancy is a single observation supplemented by a review of the literature: it allows no generalisation. The two studies on AL amyloidosis date from 2010 and 2012, concern 29 and 10 patients, are retrospective, and relate to a disease that is not AA amyloidosis. The 2026 study comparing anakinra and canakinumab in VEXAS syndrome is not randomised and sets 9 patients treated with canakinumab against 44 treated with anakinra, very unequal numbers that limit the reach of the comparison. None of this work constitutes data on familial Mediterranean fever or on AA amyloidosis, subjects on which he has published nothing.

Then the open questions of the field itself. The references that follow are not his: Arsène Mekinian is an author of none of them, and they are cited here as the state of knowledge to which a consultation refers, not as a contribution of the department.

The 2022 Cochrane review, which brought together 10 randomised trials and 312 participants aged 3 to 53 years, states that canakinumab probably reduces the number of participants experiencing an attack at 16 weeks (risk ratio 0.41, 95% confidence interval 0.26 to 0.65, from a single trial of 63 colchicine-resistant participants, moderate certainty of evidence), whereas for anakinra there is probably no difference in the number of participants experiencing an attack at four months (risk ratio 0.76, 95% confidence interval 0.54 to 1.07, in 25 colchicine-resistant participants, moderate certainty of evidence). Above all, this review states that none of the included studies reported on the prevention of AA amyloidosis. That is the main blind spot of the field: the benefit of interleukin-1 inhibitors on the very complication that treatment aims to avoid has not been measured in a trial (reference 8).

The French national protocol, published in an English version in the Revue de médecine interne in 2023, estimates at between 5,000 and 10,000 the number of patients with familial Mediterranean fever in France, all ages taken together, and describes a treat-to-target approach. It describes colchicine resistance as a very rare situation, which should remain a diagnosis of exclusion, in particular after checking adherence to treatment. Two particular situations are dealt with separately there, renal failure and pregnancy (reference 9).

The 2016 European recommendations comprise 18 recommendations, each with its level of agreement, all above 7 out of 10. Their authors themselves point out that the most debated statements are those concerning follow-up and dose modification, areas in which the available data are limited (reference 10). In other words, ten years later, the way to monitor a patient and adjust treatment remains the least solidly established part of management.

Three unknowns remain, finally, that the literature read does not resolve. There is no marker that makes it possible to predict which patient will progress to AA amyloidosis. The proportion of adult autoinflammatory presentations that remain without an identified mutation is not established, and the 2021 study cited above illustrates precisely this grey area, since 12 of the 18 patients tested carried no UBA1 mutation without the mechanism of their inflammation being elucidated. And the respective place of the different interleukin-1 inhibitors in insufficiently controlled forms is not settled by direct comparative trials.

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References

Published work he has taken part in, on this subject.

General information only. This page does not replace individual medical advice. Updated: 10 September 2026.