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Methods Mol Biol 2022 ;2523:179-195

CIRI (Centre International de Recherche en Infectiologie), Univ Lyon, Inserm U1111, Lyon, France.

The pyrin inflammasome detects effectors and toxins that inhibit RhoA GTPases and triggers inflammatory cytokines release and a fast cell death termed pyroptosis. Ancient plague pandemics in the Mediterranean basin have selected in the human population pyrin variants that can trigger an autoinflammatory disease termed familial Mediterranean fever (FMF). In addition, distinct mutations in MEFV, the gene encoding pyrin, cause a different rare autoinflammatory disease termed pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Read More

Life (Basel) 2022 Jun 15;12(6). Epub 2022 Jun 15.

Department of Paediatrics, Division of Paediatric Rheumatology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5W9, Canada.

We aimed to evaluate the effect of a combination of natural products on parameters related to inflammation, endothelial dysfunction, and oxidative stress in a cohort of familial Mediterranean fever (FMF) patients with Serum Amyloid A amyloidosis, in a non-randomized, 24-week open-label interventional study. (anti-atherosclerotic-AAL), omega-3 (anti-inflammatory-AIC), and extract with Alaskan blueberry (antioxidant-AOL) were given to patients with FMF-related biopsy-proven AA amyloidosis. Patients were >18 years and had proteinuria (>3500 mg/day) but a normal estimated glomerular filtration rate (eGFR). Read More

J Med Case Rep 2022 Jun 24;16(1):247. Epub 2022 Jun 24.

Department of General Medicine, Asahikawa Medical University, Asahikawa, Japan.

Background: Irritable bowel syndrome is a functional gastrointestinal disease. Visceral hypersensitivity is the most important pathophysiology in irritable bowel syndrome. Currently, diagnosis of irritable bowel syndrome is based on symptoms and exclusion of other organic diseases. Read More

Pediatr Surg Int 2022 Jun 23. Epub 2022 Jun 23.

Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.

Acute appendicitis is the most common surgical emergency in children. Diagnosis and management are often straightforward. However, familial Mediterranean fever is an important condition to consider in the assessment of children with acute abdominal pain, particularly in children with an origin in eastern Mediterranean basin where the disease is common. Read More

Health Sci Rep 2022 Jul 13;5(4):e693. Epub 2022 Jun 13.

Cardiovascular perfusion Department Upstate Medical University Syracuse New York USA.

Background And Aim: Some studies reported a positive link between familial Mediterranean fever (FMF) and epicardial adipose tissue. Our meta-analysis aimed to evaluate whether there is a significant association between FMF and increased epicardial adipose tissue thickness.

Methods: We searched the following databases: PUBMED, WOS, OVID, SCOPUS, and EMBASE. Read More

J Am Assoc Nurse Pract 2022 Jun 22. Epub 2022 Jun 22.

Department of Medical Genetics, Medical University Varna, Varna, Bulgaria.

Abstract: Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical genetics. Read More

Rheumatol Int 2022 Jun 18. Epub 2022 Jun 18.

Mehmet Tuncay Duruöz, Department of Physical Medicine and Rehabilitation, Division of Rheumatology, Marmara University School of Medicine, Istanbul, Turkey.

Familial Mediterranean fever (FMF) and spondyloarthritis (SpA) may show several common signs. This study aimed to evaluate the frequency of SpA and its manifestations in FMF, the impact of SpA on FMF, and the associations of non-episodic findings (heel enthesitis, protracted arthritis, and sacroiliitis) with the FMF features. Demographic, clinical, imaging, and genetic data were retrieved from medical records of the patients with adult FMF. Read More

Pharmacol Res 2022 Jun 9;182:106293. Epub 2022 Jun 9.

Pediatric Clinic, Pietro Barilla Children's Hospital, University of Parma, Parma, Italy. Electronic address:

The innate immune system is critically involved in the pathogenesis of familial Mediterranean fever (FMF), characterized by dysregulated inflammasome activity and recurrent inflammatory attacks: this is the most common among monogenic autoinflammatory diseases, which shares some biochemical pathways with the severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection. In this short review we explore the overlap in the pathophysiology of FMF and SARS-CoV-2 infection, discussing how to understand better the interaction between the two diseases and optimize management. A poorer outcome of SARS-CoV-2 infection seems not to be present in infected FMF patients in terms of hospitalization time, need for oxygen support, need for intensive care, rate of complications and exitus. Read More

Rheumatol Int 2022 Jun 8. Epub 2022 Jun 8.

Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Marmara University School of Medicine, Istanbul, Turkey.

Although it is assumed that cold exposure triggers inflammation in patients with familial Mediterranean fever (FMF), seasonal differences in FMF have not yet been investigated. This study aims to investigate the association of seasonal changes with the frequency of attacks, disease severity, and subclinical inflammation in FMF. This longitudinal study examined adult patients with FMF on an established treatment followed up for at least 1 year in Istanbul. Read More

Rev Med Liege 2022 May;77(5-6):392-398

Professeur ordinaire, Uliège, Chef de Service, Service des Maladies infectieuses et Médecine générale, CHU Liège, Belgique.

Autoinflammatory diseases refer to a broad spectrum of diseases that are primarily due to an abnormality in the regulation of natural immunity. Some are polygenic and highly influenced by the environment, others are monogenic. This article is devoted to a family of monogenic autoinflammatory diseases that is very important because it includes the emblematic Mediterranean familial fever, the first autoinflammatory disease described as such and which heavily affects the Eastern Mediterranean populations. Read More

Inflamm Regen 2022 Jun 3;42(1):18. Epub 2022 Jun 3.

Department of Cell Regulation, Graduate School of Biomedical Sciences, Nagasaki University, 1-14 Bunkyo-machi, Nagasaki, 852-8521, Japan.

Increasing attention has been paid to marine-derived biomolecules as sources of therapeutics for autoimmune diseases. Nagasaki Prefecture has many islands and is surrounded by seas, straits, gulfs, bays, and coves, giving it the second longest coastline in Japan after Hokkaido. We have collected more than 20,000 marine microbes and have been preparing an original marine microbial extract library, which contains small and mid-size biomolecules that may penetrate cell membranes and interfere with the intracellular protein-protein interaction involved in the development of autoinflammatory diseases such as familial Mediterranean fever. Read More

Int J Rheum Dis 2022 Jun 1. Epub 2022 Jun 1.

University of Health Sciences, Ankara City Hospital, Clinic of Rheumatology, Ankara, Turkey.

Aim: To determine frequency of adverse events and attacks related to vaccination in recipients of CoronaVac and BNT162b2 in familial Mediterranean fever (FMF) patients, and to search whether history of prior COVID-19 or a booster dose increases occurrence of adverse events/attacks.

Methods: FMF patients were surveyed for administration of any COVID-19 vaccine and vaccine-related adverse events or FMF attacks. Demographic, clinical, vaccine-related data, history of COVID-19 infection before or after vaccination, adherence to FMF treatment during vaccination were collected. Read More

Life (Basel) 2022 Apr 25;12(5). Epub 2022 Apr 25.

Division of Paediatric Rheumatology, Department of Paediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5C1, Canada.

Cardiovascular disease (CVD) remains underestimated in familial Mediterranean fever-associated AA amyloidosis (FMF-AA). We aimed to compare early markers of endothelial dysfunction and atherosclerosis in FMF-AA with a homozygous M694V mutation (Group 1 = 76 patients) in the Mediterranean fever () gene and in patients with other genotypes (Group 2 = 93 patients). Measures of increased risk for future CVD events and endothelial dysfunction, including flow-mediated dilatation (FMD), pentraxin-3 (PTX3), and carotid intima-media thickness (cIMT), and fibroblast growth factor 23 (FGF23) as a marker of atherosclerotic vascular disease were compared between groups. Read More

J Immunother 2022 Jul-Aug 01;45(6):284-290. Epub 2022 May 30.

Division of Medical Oncology, Department of Medicine.

The mechanisms underlying tumor immunosurveillance and their association with the immune-related adverse events (irAEs) associated with checkpoint inhibitor immunotherapies remain poorly understood. We describe a metastatic melanoma patient exhibiting multiple episodes of spontaneous disease regression followed by the development of several irAEs during the course of anti-programmed cell death protein 1 antibody immunotherapy. Whole-exome next-generation sequencing studies revealed this patient to harbor a pyrin inflammasome variant previously described to be associated with an atypical presentation of familial Mediterranean fever. Read More

Pediatr Rheumatol Online J 2022 May 23;20(1):38. Epub 2022 May 23.

Pediatrics department, Faculty of Medicine, Cairo University, 4 extension of Nobar Street, Cairo, Egypt.

Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease that can have conduction disturbances and cardiac rhythm disorders as manifestations of cardiac involvement. The aim of the study is to assess the susceptibility of children with FMF to cardiac repolarization abnormalities and therefore arrhythmia in children with FMF.

Methods: A cross sectional study conducted on 60 children had FMF and 40 age and sex matched healthy controls. Read More

J Relig Health 2022 May 23. Epub 2022 May 23.

Department of Nursing, Bucak Health School, Burdur Mehmet Akif Ersoy University, Bucak-Burdur, Turkey.

This study aimed to determine the Acceptance of Illness and use of religious coping in patients with Familial Mediterranean Fever (FMF). This descriptive and cross-sectional study was conducted with 209 FMF patients, who came to be examined in the Rheumatology outpatient clinic of a Training and Research Hospital in Turkey between June and October 2020. Data were obtained using a Patient Information Form, the Acceptance of Illness Scale, and the Religious Coping Styles Scale. Read More

J Pediatr 2022 May 17. Epub 2022 May 17.

Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Rheumatology Service, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.

We compare cases of familial Mediterranean fever-related protracted febrile myalgia and poststreptococcal myalgia, both rare disorders presenting with fever, myalgia, and inflammatory biomarkers. Although clinical symptoms may be undistinguishable, steroids are usually required in protracted febrile myalgia syndrome and poststreptococcal myalgia most often respond to nonsteroidal anti-inflammatory drugs. Awareness of poststreptococcal myalgia and preceding history may prevent unnecessary tests or overtreatment. Read More

Mod Rheumatol 2022 May 19. Epub 2022 May 19.

GRAASU GRC N°28, Service de médecine interne, Centre de référence des maladies autoinflammatoires et des amyloses inflammatoires (CEREMAIA), Sorbonne Université, Paris, France.

Front Pediatr 2022 27;10:822473. Epub 2022 Apr 27.

Children's Health Research Institute, Lawson Health Research Institute, London, ON, Canada.

Objective: To evaluate the number of episodes in the past 12 months as an indicator of the overall disease activity status in Familial Mediterranean fever (FMF).

Methods: In this cross-sectional study, patients were recruited from tertiary pediatric hospitals. Demographic data, main clinical symptoms of the episodes, treatment modalities, and genetic mutations were recorded. Read More

Oncology 2022 May 12. Epub 2022 May 12.

Introduction: MEFV is the gene responsible for familial Mediterranean fever (FMF). It encodes pyrin, which controls inflammation; Besides, previous studies have reported that some germline MEFV variants were associated with tumour susceptibility.

Materials And Methods: The loci of 12 germline MEFV variants were genotyped in 153 Japanese children with cancer, and the frequencies of these variants among the patient groups were compared with those in the general Japanese population. Read More

J Multidiscip Healthc 2022 4;15:999-1010. Epub 2022 May 4.

Pediatric Rheumatology Unit, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

Background: Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a diagnostic challenge, a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients.

Objective: To describe the organization of our multidisciplinary SAID clinic and to characterize our clinical experience, highlighting the benefits of multidisciplinary team management. Read More

Eur J Rheumatol 2022 04;9(2):62-67

Department of Pediatrics, Divisionof Molecular Biology, Ege University School of Medicine, İzmir, Turkey.

Objective: In this study, we aimed to evaluate other interleukin-1b-mediated monogenic autoinflam- matory diseases (AIDs) (tumor necrosis factor receptor-1-associated periodic syndrome, hyperimmuno- globulin D syndrome, cryopyrin-associated periodic syndrome (CAPS), pyogenic arthritis, pyoderma gangrenosum, and acne syndrome) by the next-generation sequencing method (NGS) in cases with clinical Familial Mediterranean Fever symptoms, and no variant detected in the MEFV gene. Methods: The cases included in this study and their parents were interviewed and filled in a survey form. The targeted genetic panel for interleukin-1b-mediated AIDs covering four genes (MVK, NLRP3,TNFRSF1A, and PSTPIP1) was studied for cases with a negative result from the MEFV gene analysis. Read More

RMD Open 2022 05;8(1)

Sorbonne University, AP-HP, Tenon Hospital, Internal Medicine Department, 4 rue de la Chine, 75020, Paris, France; national Reference center for autoinflammatory diseases and AA amyloidosis (CEREMAIA), Tenon Hospital, Paris, France

Objective: There is little known about SARS-CoV-2 infection in patients with systemic autoinflammatory disease (SAID). This study aimed to describe epidemiological features associated with severe disease form and death. Mortality between patients with and without SAID hospitalised for SARS-CoV-2 infection was compared. Read More

Mod Rheumatol Case Rep 2022 May 10. Epub 2022 May 10.

Department of Orthopedics, Princess Alia Hospital, Hebron, Palestine.

Introduction: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease resulting from mutations of the MEFV gene. The disease is characterized by recurrent attacks of abdominal pain and fever. Most FMF patients develop arthritis at some point in their life usually manifesting as self-limiting mono-arthritis. Read More

Int Ophthalmol 2022 May 5. Epub 2022 May 5.

Department of Radiology, University of Yuksek Ihtisas, Ankara, Turkey.

Purpose: This study aimed to evaluate ocular blood flow and, retinal, choroidal and retinal nerve fiber layer thickness in children with familial Mediterranean fever (FMF) with patients who had at least five attacks.

Methods: Fifty-six patients with FMF and 56 healthy subjects were enrolled in the study. Each participant's choroidal thickness (CT) and retinal thickness (RT) measurements were performed in the foveola and at horizontal nasal and temporal quadrants within 500-μm intervals up to 1. Read More

Iran J Allergy Asthma Immunol 2022 Apr 11;21(2):197-206. Epub 2022 Apr 11.

Department of Immunology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Autoinflammatory diseases (AIDs) are disorders with an inborn error of innate immunity, characterized by recurrent episodes of fever and inflammatory attacks. The spectrum of AIDs is expanding, but there are no standardized clinical criteria for the diagnosis of the patients. This study aims at establishing the first autoinflammatory registry of an Iranian population focusing on the clinical and laboratory features that may help clinicians for a better understanding and diagnosis of these disorders. Read More

Reumatol Clin (Engl Ed) 2022 Apr;18(4):227-230

Kartal Dr. Lutfi Kirdar Training and Research Hospital, Department of Rheumatology, Istanbul, Turkey.

Introduction: Exertional leg pain (ELP) and enthesitis are musculoskeletal findings in familial Mediterranean fever (FMF). They are not accepted as principal treatment targets. In this study, we assessed the effectiveness of treatments on ELP and enthesitis. Read More

J Clin Med 2022 Apr 9;11(8). Epub 2022 Apr 9.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul 34303, Turkey.

(1) Background: We aimed to describe the clinical features and outcomes of coronavirus disease-2019 (COVID-19) in children and late adolescents with inflammatory rheumatic diseases (IRD) and to measure their severity risks by comparing them with healthy children. (2) Methods: Among children and late adolescents found to be severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) positive via polymerase chain reaction (PCR) test, IRD patients with an at least six-months follow-up duration, and healthy children were included in the study. Data were obtained retrospectively. Read More

Curr Rheumatol Rep 2022 Jun 18;24(6):206-212. Epub 2022 Apr 18.

Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey.

Purpose Of Review: To provide an up-to-date approach to diagnosis and management of FMF patients.

Recent Findings: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and prototype monogenic autoinflammatory recurrent fever syndrome. Although it is one of the well-known autoinflammatory disorders, evaluations in the etiopathogenesis and genetics of the disease have shown that FMF is more complex than previously known. Read More

Int J Mol Sci 2022 Apr 2;23(7). Epub 2022 Apr 2.

FMF Clinic, The Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan 5265601, Israel.

Familial Mediterranean fever (FMF), the most frequent monogenic autoinflammatory disease, is manifested with recurrent and chronic inflammation and amyloid A (AA) amyloidosis, driven by overproduction of interleukin 1 (IL-1) through an activated pyrin inflammasome. Consequently, non-responsiveness to colchicine, the cornerstone of FMF treatment, is nowadays addressed by IL-1- blockers. Each of the two IL-1 blockers currently used in FMF, anakinra and canakinumab, has its own merits for FMF care. Read More