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First author : G Karatemiz

Review : Rheumatology


Inflammatory rheumatic diseases are a classic cause of inflammatory amyloidosis (AA). Behçet's disease is a multi-systemic vasculitis that affects vessels of all calibres. Although uncommon in Behçet's disease, AA amyloidosis is at high risk of mortality and is one of the main causes of renal failure in Behçet's disease. The authors' aim was to determine the frequency of AA amyloidosis in patients with Behçet's disease, and identify clinical and therapeutic demographics.


Patients with Behçet's disease complicating with AA amyloidosis in Turkey were included. The primary endpoints were end-stage renal disease and death. The prevalence of AA amyloidosis was estimated separately for patients registered between 1976 and 2000 and those registered between 2001 and 2017, to determine whether there was a change in frequency.

A systematic review of the literature on cases of AA amyloidosis complicating Behçet's disease accompanied this study.


Between 1976 and 2017, a cohort of patients with Behçet's disease (n=9410) was followed of whom, 27 (0.29%) developed AA amyloidosis.

Between 1976 and 2000, a cohort of 3,820 patients with Behçet's disease was followed; 24 patients (0.62%) developed AA amyloidosis.

Between 2001 and 2017, of the 5590 patients followed for Behçet's disease, 3 developed AA amyloidosis (0.054%).

The incidence of AA amyloidosis increased from 0.62% to 0.054% (P < 0.0001).

Co-morbidities that may be associated with amyloidosis were tuberculosis (n= 2), FMF

FMF (n=1) and spondyloarthritis (n=1). MEFV gene sequencing had been performed in 2 patients showing no pathogenic variant, and one of them was heterozygous for the M680I mutation.

Prior to the diagnosis of AA amyloidosis, 19 patients (70%) were on colchicine, 15 patients were on immunosuppressants and 2 on corticosteroids only. At the time of amyloidosis diagnosis, 12 patients were off treatment, 8 were using an immunosuppressant (5 AZA, 2 CYC and 1 MTX), and 2 were using CS only.


Fourteen patients (52%) died after a median follow-up of 3 years (IQR: 7.75), 3 were lost to follow-up and 10 (37%) were still alive after a median follow-up of 11 years

(IQR: 16). The reasons for death were infections in 5 cases, complications related to end-stage renal failure in 5 cases, subarachnoid haemorrhage, gastric adenocarcinoma, cirrhosis associated with amyloidosis and iatrogenic intestinal perforation in one case each. Nine (64%) of the 14 patients who died had developed end-stage renal disease (ESRD).

Overall, 15/27 patients (55.5%) developed ESRD after a median follow-up of 3.5 years (IQR: 5.25) after diagnosis of AA amyloidosis. Five patients underwent renal transplantation.

A systematic review of the literature revealed 82 cases in 42 publications. The main characteristics of the patients were a predominance of males and a high frequency of vascular involvement. One third of patients died within 6 months of diagnosis of AA amyloidosis (table 1).

Discussion and conclusion:

According to the results of this study, the frequency of AA amyloidosis in patients with Behçet's disease appears to be decreasing. Male patients with major organ involvement, particularly vascular involvement, appear to be more likely to develop AA amyloidosis. Although AA amyloidosis rarely complicates Behçet's disease, its occurrence is observed in younger patients and it appears to worsen the overall prognosis of the disease.


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Premier auteur : Djouher Ait-Idir


Revue :  Molecular Genetics and Genomics


Amyloid-associated renal amyloidosis (AA) is a severe complication of familial Mediterranean fever (FMF). Its occurrence has been reported to be associated with polymorphisms in the serum amyloid A1 (SAA1) gene and variants in the MEFV gene, associated with FMF respectively.

In Algeria, the association between SAA1 variants and FMF-related amyloidosis had not been studied, hence the aim of this case-control study.


120 subjects were included including 60 healthy controls and 60 unrelated FMF patients (39 with amyloidosis and 21 without). All were genotyped for SAA1 alleles (SAA1.1, SAA1.5 and SAA1.3), and a subset for the 13 C/T polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Comparisons between genotype and allele frequencies were made using the chi-square and Fisher tests.


Among the 39 FMF patients with AA amyloidosis, there were 18 males for 21 females; mean age was 39.5 years with a mean age at onset of FMF of 11.5 years and a mean number of FMF progression years of 24.5 years; In 36% of cases there was consanguinity and a family history. 77% were treated with colchicine. There was no significant difference for these elements compared with FMF patients without amyloidosis.


The SAA1.1/1.1 genotype was predominant in patients with FMF complicated with AA amyloidosis compared with patients with FMF without amyloidosis (p = 0.001) and controls (p < 0.0001).

The SAA1.1/1.5 genotype was higher in patients without amyloidosis (p = 0.0069) and controls (p = 0.0082) than in patients with amyloidosis.

Bivariate logistic regression revealed an increased risk of AA amyloidosis with three genotypes, SAA1.1/1.1 [odds ratio 7.589 (OR); 95% confidence interval (CI): 2.130-27.041] (p = 0.0018), SAA1. 1/1.3 [OR 5.700; 95% CI: 1.435-22.644] (p = 0.0134), and M694I/M694I [OR 4.6; 95% CI: 1.400-15.117] (p = 0.0119).

The SAA1.1/1.5 - 13 C/C genotype group [OR 0.152; 95% CI: 0.040-0.587] (p = 0.0062) was protective against amyloidosis.

In all groups, the -13 C/C genotype predominated and was not associated with renal complications [OR 0.88; 95% CI: 0.07-10.43] (p = 0.915).

Discussion and conclusion:

In conclusion, unlike the -13 C/T polymorphism, the SAA1.1/1.1, SAA1.1/1.3 and M694I/M694I genotypes may increase the risk of developing renal AA amyloidosis in the Algerian population with familial Mediterranean fever.

P. Mertz a, V. Hentgenb, G. Boursier c, J. Delond, S. Georgin-Laviallee,∗,f

Revue de la littérature sur les syndromes auto-inflammatoires monogéniques liés aux actinopathies


Auto-inflammatory diseases (AIDs) are diseases resulting from an inappropriate activation of innate immunity in the absence of any infection. The field of monogenic AIDs is constantly expanding, with the discovery of new pathologies and pathophysiological mechanisms thanks to pangenomic sequencing. Actinopathies withauto-inflammatorymanifestations are anew emerging group ofAIDs, linked to defects in the regulation of the actin cytoskeleton dynamics. These diseases most often begin in the neonatal period and combine to varying degrees a more or less severe primary immune deficiency, cytopenias (especially thrombocytopenia), auto-inflammatory manifestations (especially cutaneous and digestive), atopic and auto-immune manifestations. The diagnosis is to be evoked essentially in front of a cutaneousdigestive auto-inflammation picture of early onset, associated with a primary immune deficiency and thrombocytopenia or a tendency to bleed. Some of these diseases have specificities, including a risk of macrophagic activation syndrome or a tendency to atopy or lymphoproliferation. We propose here a review of the literature on these new diseases, with a proposal for a practical approach according to the main associated biological abnormalities and some clinical particularities. However, the diagnosis remains genetic, and several differential diagnoses must be considered. The pathophysiology of these diseases is not yet fully elucidated, and studies are needed to better clarify the inherent mechanisms that can guide the choice of therapies. In most cases, the severity of the picture indicates allogeneic marrow transplantation.

© 2023 Publié par Elsevier Masson SAS au nom de Société Nationale Française de Médecine Interne (SNFMI).

A20 HaploinsufficiencyA Systematic Review of 177 Cases
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