FMF: Factors associated with delayed diagnosis

Data from the JIR shine a light on this important autoinflammatory disease

2023-05-31

(Press-News.org) EULAR – The European Alliance of Associations for Rheumatology – held its 2023 annual congress in Milan, Italy. One of the abstracts chosen for presentation in the scientific session on Rheumatic and Musculoskeletal diseases (RMDs) in children and young people, focused on the factors associated with diagnostic delay in FMF, using data from the Juvenile Inflammatory Rheumatism (JIR) cohort.

Of 960 FMF patients enrolled, 80% received a diagnosis within 10 years of symptom onset; the remaining 20% had delayed diagnosis, and were significantly older with median age of 46.4 versus 15.5 years. The authors also found the diagnostic delay was higher in women than men. This could be linked to abdominal attacks being confused with period pains.

When the investigators looked at people’s clinical presentation during FMF attacks, no differences were found for abdominal pain, musculoskeletal symptoms, or chest pain. However, erysipelas-like erythema was more frequently observed among people with delayed diagnosis (33% versus 22%). This clinical feature is not known as a pathognomonic symptom of FMF by all practitioners, but has been previously reported in Israel and Turkey where the disease is highly prevalent.1,2

The percentage of patients with one or two pathogenic MEFV mutations did not differ according to the time to diagnosis. However amyloidosis was significantly more frequent in those with delayed diagnosis. Patients with delayed diagnosis also tended to receive significantly more biotherapy.

To the authors’ knowledge, this cohort study is the first to investigate diagnostic delay and its associated factors in a large European cohort. Education around FMF and better communication to patients and practitioners could be fruitful to help improve earlier diagnosis rates.

Source:

Bourguiba R, et al. Frequency and factors associated with diagnostic delay in European patients with familial Mediterranean fever: a study on 960 patients from the JIR cohort. Presented at EULAR 2023; Abstract OP0036.

References:

1. Lidar M, et al. Diagnosis delay in familial Mediterranean fever (FMF): social and gender gaps disclosed. Clin Exp Rheumatol 2005;23:357–63.

2. Erdogan M, et al. Familial Mediterranean fever: misdiagnosis and diagnostic delay in Turkey. Clin Exp Rheumatol 2019;37 Suppl 121:119–24.

About EULAR

EULAR is the European umbrella organisation representing scientific societies, health professional associations and organisations for people with rheumatic and musculoskeletal diseases (RMDs). EULAR aims to reduce the impact of RMDs on individuals and society, as well as improve RMD treatments, prevention, and rehabilitation. To this end, EULAR fosters excellence in rheumatology education and research, promotes the translation of research advances into daily care, and advocates for the recognition of the needs of those living with RMDs by EU institutions.

Contact

EULAR Communications, communications@eular.org

Notes to Editors
EULAR Recommendations
EULAR School of Rheumatology
EULAR Press Releases

END

ELSE PRESS RELEASES FROM THIS DATE:

Autoimmune diseases affect one in ten

2023-05-31

EULAR – the European Alliance of Associations for Rheumatology – works on a broad spectrum of autoimmune and auto-inflammatory diseases. A rise in the incidence of some of these has been described, raising the possibility that incidence might be impacted by environmental factors. But there is a lack of available data, and commonalities and differences between some individual diseases also remain poorly understood. Conrad and colleagues aimed to clarify the picture by investigating 19 of the most common autoimmune diseases. Their work – shared at the 2023 EULAR congress in Milan, Italy – assesses trends over time, by sex, age, socioeconomic status, season ...

Exploring the role of AI in early RA

2023-05-31

Early inflammatory arthritis is often undifferentiated, but it may develop into established RA or another arthropathy.1 Alternatively, it may resolve spontaneously, or remain undifferentiated for indefinite periods. Erosion is a key prognostic factor which can be detected with magnetic resonance imaging (MRI).2 In addition, MRI allows direct visualization and assessment of (teno-) synovitis and bone marrow edema.3 Predicting early RA from MRI images of the hands and feet can help people access timely treatment, which may possibly ...

Smoking cessation and changes in anxiety, depression in adults with and without psychiatric disorders

2023-05-31

About The Study: In this study of 4,260 adults with and without psychiatric disorders, smoking cessation, sustained for at least 15 weeks, was associated with improved mental health outcomes in observational analyses, but the instrumental variable analysis provided inconclusive evidence. Findings like these may reassure people who smoke and their clinicians that smoking cessation likely will not worsen and may improve mental health. Authors: Angela Difeng Wu, M.Sc., of the University of Oxford in Oxford, United Kingdom, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2023.16111) Editor’s ...

Landmark study finds that the shape of the brain influences the way it works

2023-05-31

For over a century, researchers have thought that the patterns of brain activity that define our experiences, hopes and dreams are determined by how different brain regions communicate with each other through a complex web of trillions of cellular connections. Now, a study led by from researchers at Monash University's Turner Institute for Brain and Mental Health has examined more than 10,000 different maps of human brain activity and found that the overall shape of a person’s brain exerts a far greater influence on how we think, feel and behave than its intricate neuronal connectivity. The study, published ...

New ‘designer’ titanium alloys made using 3D printing

2023-05-31

A team of researchers has created a new class of titanium alloys that are strong and not brittle under tension, by integrating alloy and 3D-printing process designs. The breakthrough, published in the top journal Nature, could help extend the applications of titanium alloys, improve sustainability and drive innovative alloy design. Their discovery holds promise for a new class of more sustainable high-performance titanium alloys for applications in aerospace, biomedical, chemical engineering, space and energy technologies. RMIT University and the University of Sydney led the innovation, in collaboration with Hong Kong Polytechnic University and the company Hexagon Manufacturing Intelligence ...

A protein mines, sorts rare earths better than humans, paving way for green tech

2023-05-31

UNIVERSITY PARK, Pa. — Rare earth elements, like neodymium and dysprosium, are a critical component to almost all modern technologies, from smartphones to hard drives, but they are notoriously hard to separate from the Earth’s crust and from one another. Penn State scientists have discovered a new mechanism by which bacteria can select between different rare earth elements, using the ability of a bacterial protein to bind to another unit of itself, or “dimerize,” when it is bound to certain rare earths, but prefer to remain a single unit, or “monomer,” ...

First-of-its-kind open-analysis platform for pediatric brain tumors provides robust data resource for childhood cancer research

2023-05-31

Philadelphia, May 31, 2023 – Researchers from Children’s Hospital of Philadelphia (CHOP), the Alex’s Lemonade Stand Foundation Childhood Cancer Data Lab, the Children’s Brain Tumor Network (CBTN), the Pacific Pediatric Neuro-Oncology Consortium (PNOC), and more than 20 additional institutions have partnered to create a first-of-its-kind open-source, reproducible analysis platform for pediatric brain tumors. With the help of thousands of genomically sequenced samples, researchers have used this platform to identify initial findings about genetic variants associated with poorer outcomes that could help guide future diagnostic and therapeutic advances. The ...

Scientists’ report world’s first X-ray of a single atom in Nature

2023-05-31

A team of scientists from Ohio University, Argonne National Laboratory, the University of Illinois-Chicago, and others, led by Ohio University Professor of Physics, and Argonne National Laboratory scientist, Saw Wai Hla, have taken the world’s first X-ray SIGNAL (or SIGNATURE) of just one atom. This groundbreaking achievement was funded by the U.S. Department of Energy, Office of Basic Energy Sciences and could revolutionize the way scientists detect the materials. Since its discovery by Roentgen ...

Phenomenal phytoplankton: Scientists uncover cellular process behind oxygen production

2023-05-31

Take a deep breath. Now take nine more. According to new research, the amount of oxygen in one of those 10 breaths was made possible thanks to a newly identified cellular mechanism that promotes photosynthesis in marine phytoplankton. Described as “groundbreaking” by a team of researchers at UC San Diego’s Scripps Institution of Oceanography, this previously unknown process accounts for between 7% to 25% of all the oxygen produced and carbon fixed in the ocean. When also considering photosynthesis occuring on land, researchers estimated that this mechanism could be responsible for generating ...

The world's fastest electron microscope

2023-05-31

Electron microscopes give us insight into the tiniest details of materials and can visualize, for example, the structure of solids, molecules or nanoparticles with atomic resolution. However, most materials in nature are not static. They constantly interact, move and reshape between initial and final configurations. One of the most general phenomena is the interaction between light and matter, which is omnipresent in materials such as solar cells, displays or lasers. These interactions are defined by electrons pushed and pulled around by the oscillations of light, and the dynamics are extremely fast: light waves oscillate at attoseconds, the billionth of a billionth ...

One of the largest studies on preterm birth finds a maternal biomarker test significantly reduces neonatal morbidities and improves neonatal outcomes

One of the largest studies of its kind finds early intervention with iron delivered intravenously during pregnancy is a safe and effective treatment for anemia

FMF: Factors associated with delayed diagnosis

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: