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French protocol for the diagnosis and management of recurrent pericarditis Journal: La Revue de médecine interne

Updated: Jul 22

First author: Yvan Jamilloux

Country of study: France

CEREMAIA Tenon author: Sophie Georgin-Lavialle

Reference: Jamilloux Y, André M, Maillard H, Baudet M, Beauvais F, Boursier G, Buschiazzo A, Donal E, Flecher E, Georgin-Lavialle S, Gerfaud-Valentin M, Kone-Paut I, Labombarda F, Piriou N, Saadoun D, Aouba A, and collaborators. French protocol for the diagnosis and management of recurrent pericarditis / Protocole national de diagnostic et de soins – Péricardites récidivantes. La Revue de médecine interne. 2026;47:127–146.

DOI: https://doi.org/10.1016/j.revmed.2026.02.002


French protocol for the diagnosis and management of recurrent pericarditis Journal: La Revue de médecine interne

5 key points

  • Recurrent pericarditis means repeated episodes of inflammation of the pericardium, separated by a symptom-free period of at least 4 to 6 weeks.

  • Diagnosis is based on symptoms, clinical examination, electrocardiogram, echocardiography, sometimes cardiac MRI, and inflammation markers such as CRP.

  • Colchicine is the cornerstone treatment to reduce the risk of recurrence and is often combined with anti-inflammatory drugs during flares.

  • Corticosteroids should be avoided as much as possible, except in specific situations, because they may promote treatment dependence and recurrences.

  • In severe or resistant forms, treatments targeting interleukin-1, such as anakinra, may be discussed with expert centres.


Introduction

Pericarditis is inflammation of the pericardium, the thin sac surrounding the heart. When it comes back several times after a first episode, it is called recurrent pericarditis. This condition can cause significant chest pain, anxiety, emergency visits and difficulties in family, social or professional life.


Methods

This article is a French national protocol for diagnosis and care. It brings together expert recommendations to help physicians diagnose, treat and follow people with recurrent pericarditis, including adults, children and specific situations such as pregnancy.


Results

Diagnosis relies on several elements: typical chest pain, a pericardial rub heard during examination, electrocardiogram changes, fluid around the heart on echocardiography, and blood signs of inflammation, especially CRP. Cardiac MRI can help in difficult cases. Most cases are called idiopathic, often presumed to follow a viral infection, but some may be linked to autoimmune, autoinflammatory or infectious diseases, or to inflammation after cardiac surgery or procedures. Serious complications, such as cardiac tamponade or constrictive pericarditis, are rare but must be recognized quickly.


Discussion

Treatment aims to control inflammation, relieve pain and, above all, prevent recurrences. Colchicine is central and often needs to be continued for several months. During flares, anti-inflammatory drugs or aspirin may be used together with colchicine. Corticosteroids are no longer recommended except in specific cases. In severe, resistant or corticosteroid-dependent forms, interleukin-1 inhibitors, particularly anakinra, can improve symptoms and quality of life. Follow-up should also include rest, gradual return to physical activity, patient education and attention to psychological impact.


Conclusion

Recurrent pericarditis requires coordinated care involving cardiologists, internal medicine specialists, general practitioners and expert centres. Accurate diagnosis, appropriate treatment and very gradual treatment withdrawal can reduce relapses and improve quality of life.

 
 
 

A missense mutation in the SAA1 protein causing hereditary amyloid A Amyloidosis

Une mutation faux-sens de la protéine SAA1 responsable d’une amylose AA héréditaire

First author: Nelson Leung

Journal: Kidney International (2026), 110:255–259

Summary by Prof. Sophie Georgin-Lavialle and Dr Rim Bourguiba


Key points

• Description of a familial form of AA amyloidosis due to a heterozygous SAA1 mutation.

• The presentation is unusual because there is no inflammatory syndrome and circulating SAA levels are normal or low.

• The p.D34V mutation markedly increases SAA1’s ability to form amyloid fibrils.

• This abnormality may not be detected by standard proteomic typing.

• A genetic cause should be considered in familial AA amyloidosis or AA amyloidosis without an obvious inflammatory cause.


Summary

This article reports a family affected by hereditary AA amyloidosis linked to an SAA1 mutation. The index case is a 37-year-old man investigated for significant proteinuria; kidney biopsy showed AA amyloid deposits. However, the presentation did not match “classic” AA amyloidosis: there was no inflammatory syndrome, no CRP elevation, and circulating SAA was below the detection threshold. The family history was highly suggestive, with several relatives affected by renal or systemic amyloidosis and early deaths, pointing toward autosomal dominant inheritance.


Whole-exome sequencing identified in affected individuals a heterozygous missense variant in SAA1, c.101A>T, leading to the p.D34V substitution. This variant was absent in the unaffected father and not present in population databases. Prior genetic investigations for an autoinflammatory disease were negative. The authors emphasize that this variant lies in a genomic region that can be masked in some standard analyses, creating a risk of missed diagnosis.


The work is also methodologically noteworthy. With conventional mass spectrometry, deposits were typed as AA amyloidosis with predominance of SAA1, but without detection of the mutant protein. In fact, the D34V substitution lies between two tryptic cleavage sites, making the mutant peptide difficult to detect with standard workflows. Using an alternative digestion with Asp-N enabled identification of the mutant peptide in amyloid deposits. Importantly, deposits preferentially contained the mutant form of SAA1, suggesting it aggregates much more readily than the wild-type protein.


Structural and functional analyses were consistent with this. The mutation replaces a negatively charged aspartic acid with a hydrophobic valine in a region important for fibrillogenesis. This change destabilizes the native structure of SAA1 and promotes its conversion into amyloid fibrils. Experiments with synthetic peptides showed a clear increase in aggregation of the mutant peptide, with higher Thioflavin T signal and abundant fibrils on electron microscopy, whereas the wild-type peptide aggregated little under the same conditions.


Overall, this work describes a new cause of hereditary AA amyloidosis, independent of chronic inflammation and driven by the intrinsic amyloidogenicity of mutant SAA1. Clinically, the message is important: in AA amyloidosis without an obvious inflammatory cause - especially in younger patients and/or in the presence of a family history - a genetic etiology should be considered and the SAA1 gene carefully analyzed. This observation also raises management questions, as usual AA amyloidosis treatments aimed at reducing SAA production (e.g., anti–IL-6 therapies) may have limited efficacy in this context.

 

 

 
 
 

VEXAS syndrome: key points to remember

In this article, Journal des Femmes Santé reviews the causes, symptoms, and management of the disease, with insights from Professor Sophie Georgin-Lavialle, an internist at Tenon Hospital.


Syndrome VEXAS : l’essentiel à retenir

VEXAS syndrome is a rare inflammatory disease, first described in 2020. Its name is an acronym standing for Vacuoles, E1 enzyme (UBA1), X-linked, Autoinflammatory, Somatic. It is caused by an acquired (somatic) mutation of the UBA1 gene, located on the X chromosome, leading to excessive chronic inflammation throughout the body.


This disease primarily affects men over the age of 50. Because the mutations are not present at birth, symptoms appear in adulthood (the youngest patient described was 46 years old).


Common symptoms include:

  • Anemia

  • Persistent fever

  • Severe fatigue

  • Pain in large joints

  • Skin lesions

  • Weight loss and loss of appetite

  • Cartilage inflammation (ears, nose – chondritis)

  • Possible lung involvement

  • Markedly elevated inflammatory markers (CRP)


Diagnosis relies on genetic sequencing, which has made it possible to identify many patients who were previously misdiagnosed with other inflammatory or hematological diseases.


There is no typical acute phase: inflammation is continuous, sometimes with flares.


VEXAS syndrome remains poorly understood, particularly regarding why some individuals develop this mutation while others do not.


 
 
 
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