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Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology".

Deadline for manuscript submissions: closed (15 December 2021) | Viewed by 12198

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Special Issue Editors

Prof. Dr. Isabelle Touïtou

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Guest Editor

1. Stem cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, University of Montpellier, Montpellier, France
2. Department of Medical Genetics, Rare Diseases and Personalized Medicine, CEREMAIA, CHU Montpellier, Montpellier, France
Interests: genetics; familial mediterranean fever (FMF); autoinflammatory diseases

Prof. Dr. Jeroen van der Hilst

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Guest Editor

1. Department of Infectious Diseases and Immunity, Jessa Hospital, Hasselt, Belgium
2. Limburg Clinical Research Center, University of Hasselt, Hasselt, Belgium
Interests: autoinflammatory diseases; anti-IL1 treatment; vaccination of immunosuppressed patients; FMF; travel medicine; antimicrobial stewardship

Special Issue Information

Dear Colleagues,

Tremendous recent advances in the field of autoinflammatory diseases have led to major improvements in patient care, both in terms of the reliability of their diagnosis and the impact on their treatment, which is more effective since it is targeted and initiated earlier, thus avoiding functional (deafness, blindness), or even life-threatening complications (amyloidosis).

This Special Issue is devoted to highlighting the major advances that arose over the last three decades, to help the reader understand how these were translated into patient benefits, but also from clinical or technological perspectives. We welcome contributions to this issue dealing with both the past (reviews, epidemiological studies, etc.) and future (development of new pharmacogenomic strategies, etc.). We also invite articles focusing on new genetic mechanisms (mosaics, digenism, epigenetics, etc.), co-morbidities (autoinflammation as a consequence of infectious or cancerous disease, etc.), as well as educational (the patient as an actor, puzzling cases resolved, etc.), socio-psychological (quality of life, etc.), or economical issues (factual studies on the impact of recent genetic or therapeutic developments, etc.).

Thank you very much for taking this opportunity.

Prof. Dr. Isabelle Touïtou
Prof. Dr. Jeroen van der Hilst
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

genetic diagnosis
familial mediterranean fever (FMF)
autoinflammatory diseases
inflammation
patient care
biotherapies

Published Papers (5 papers)

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Research

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14 pages, 957 KiB

Open AccessArticle

The Use of Chitotriosidase as a Marker of Active Sarcoidosis and in the Diagnosis of Fever of Unknown Origin (FUO)

by Angela Maria Di Francesco, Elena Verrecchia, Ludovico Luca Sicignano, Maria Grazia Massaro, Daniela Antuzzi, Marcello Covino, Giuliana Pasciuto, Luca Richeldi and Raffaele Manna

J. Clin. Med. 2021, 10(22), 5283; https://doi.org/10.3390/jcm10225283 - 13 Nov 2021

Cited by 7 | Viewed by 1698

Abstract

Sarcoidosis is a multi-organ inflammatory granulomatosis with a lung-predominant involvement. The aim of this study was to investigate the use of serum chitotriosidase (CHIT1) in patients with fever of unknown origin (FUO); the patients with confirmed diagnosis of active sarcoidosis were compared with ones affected by inactive or treated sarcoidosis. CHIT1 activity was evaluated in 110 patients initially admitted at the hospital as FUOs. The overall performance of CHIT1 for active sarcoidosis diagnosis was assessed by performing an area under the receiver operating characteristic curve analysis (AUROC). The sarcoidosis patients were significantly older than the FUO patients not affected by sarcoidosis (p < 0.01). CHIT1 showed a good accuracy as a biomarker for active sarcoidosis in patients explored for FUO (AUROC 0.955; CI 95% 0.895–0.986; p < 0.001). A CHIT1 value >90.86 showed 96.8% sensitivity (84.2–99.9) and 85.5% specificity (75–92.8) in discriminating active sarcoidosis from other causes of FUO. CHIT1 significantly discriminated active versus inactive/under treatment sarcoidosis patients (with lower enzyme activity) (ROC analysis, sensitivity: 96.9%, specificity: 94.7%, value >83.01 nmol/mL/h, AUROC: 0.958, 0.862–0.994, p < 0.001) compared to ACE (ROC analysis, sensitivity: 25.8%, specificity: 93.7%, value >65 UI/L). In conclusion, CHIT1 is a reliable/sensitive biomarker of active sarcoidosis, with values significantly decreasing in remitted/treated patients. It significantly discriminates active sarcoidosis from FUO patients, providing a useful tool in the diagnosis-assessing process. Full article

(This article belongs to the Special Issue Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice)

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9 pages, 390 KiB

Open AccessArticle

Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever

by Zehra Serap Arici, Micol Romano, David Piskin, Ferhat Guzel, Sezgin Sahin, Roberta A. Berard, Mahmut I. Yilmaz and Erkan Demirkaya

J. Clin. Med. 2021, 10(16), 3511; https://doi.org/10.3390/jcm10163511 - 10 Aug 2021

Cited by 7 | Viewed by 2554

Abstract

The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. Multiple comparisons were performed according to the age of diagnosis, disease phenotype, mutation, and mortality. Our study included 169 patients with a diagnosis of AA amyloidosis. There were 101 patients diagnosed with FMF < 18 years of age and 68 patients diagnosed who were ≥18 years of age. The three most common clinical manifestations were fever (84.6%), abdominal pain (71.6%), and arthritis (66.9%). The most common allele among FMF patients was M694V (60.6%), followed by E148Q (21.4%), and M680I (10.3%). The most frequent genotypes were M694V/M694V (45.0%), M694V/E148Q (14.8%), and E148Q/E148Q (11.2%) among 169 patients in our cohort. During the follow-up period, 15 patients (10 male, 5 female) died, of whom 14 had M694V homozygous genotype and one was homozygous for E148Q. Clinicians should be aware of patients with homozygous E148Q genotype for close monitoring and further evaluation. The possible relationship between E148Q and AA amyloidosis needs to be confirmed in other ethnicities. Full article

(This article belongs to the Special Issue Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice)

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11 pages, 2492 KiB

Open AccessArticle

Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review

by Hélène Vergneault, Alexandre Terré, David Buob, Camille Buffet, Anael Dumont, Samuel Ardois, Léa Savey, Agathe Pardon, Pierre-Antoine Michel, Jean-Jacques Boffa, Gilles Grateau and Sophie Georgin-Lavialle

J. Clin. Med. 2021, 10(9), 1983; https://doi.org/10.3390/jcm10091983 - 05 May 2021

Cited by 4 | Viewed by 1873

Abstract

Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9 from the French cohort and 33 from literature review. Ninety percent of patients were on hemodialysis for renal amyloidosis before the development of goiter. The goiter grew up rapidly in 88% of cases; 75.6% of patients were euthyroid, 58% displayed dyspnea, and 44.8% dysphagia. Various features were seen on ultrasound, from diffuse to multinodular goiter. When it was performed, fine-needle aspiration biopsy almost always revealed amyloidosis. Thirty-one patients underwent thyroidectomy: to manage compressive symptoms (72%) or rule out malignancy (27%). Histology showed mature adipose tissue in 64% of cases and lymphocytic infiltration in 21.4%. In conclusion, amyloid goiter in familial Mediterranean fever preferentially occurs in patients with end stage renal failure. Fine-needle aspiration biopsy seems to be a sensitive exam for diagnosis, but thyroidectomy remains sometimes necessary to rule out malignancy or release compressive symptoms. Full article

(This article belongs to the Special Issue Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice)

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11 pages, 598 KiB

Open AccessArticle

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

by Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset and Isabelle Touitou

J. Clin. Med. 2021, 10(8), 1552; https://doi.org/10.3390/jcm10081552 - 07 Apr 2021

Cited by 14 | Viewed by 2165

Abstract

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (MVK) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, and the most recently recognized is disseminated superficial actinic porokeratosis, a dominant disease limited to the skin. To evaluate a possible correlation between genotypes and (1) the different MKAD clinical subtypes or (2) the occurrence of severe manifestations, data were reviewed for all patients with MVK variants described in the literature (N = 346), as well as those referred to our center (N = 51). The genotypes including p.(Val377Ile) (homozygous or compound heterozygous) were more frequent in mild systemic forms but were also sometimes encountered with severe disease. We confirmed that amyloidosis was more prevalent in patients compound heterozygous for p.(Ile268Thr) and p.(Val377Ile) than in others and revealed new associations. Patients homozygous for p.(Leu264Phe), p.(Ala334Thr) or compound heterozygous for p.(His20Pro) and p.(Ala334Thr) had increased risk of severe neurological or ocular symptoms. All patients homozygous for p.(Leu264Phe) had a cataract. The variants associated with porokeratosis were relatively specific and more frequently caused a frameshift than in patients with other clinical forms (26% vs. 6%). We provide practical recommendations focusing on phenotype–genotype correlation in MKAD that could be helpful for prophylactic management. Full article

(This article belongs to the Special Issue Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice)

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Review

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23 pages, 1101 KiB

Open AccessReview

Paediatric Behçet’s Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics

by Ovgu Kul Cinar, Micol Romano, Ferhat Guzel, Paul A. Brogan and Erkan Demirkaya

J. Clin. Med. 2022, 11(5), 1278; https://doi.org/10.3390/jcm11051278 - 26 Feb 2022

Cited by 8 | Viewed by 3256

Abstract

Behçet’s disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes. Emerging reports of monogenic mimics have indicated the importance of genetic testing, particularly for those with early-onset, atypical features and familial aggregation. Treatment options ought to be evaluated in a multidisciplinary setting, given the complexity and diverse organ involvement. Owing to the rarity of the condition, there is a paucity of paediatric trials; thus, international collaboration is warranted to provide consensus recommendations for the management of children and young people. Herein, we summarise the current knowledge of the clinical presentation, immunopathogenetic associations and disease mechanisms in patients with paediatric BD and BD-related phenotypes, with particular emphasis on recently identified monogenic mimics. Full article

(This article belongs to the Special Issue Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice)

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