Familial Mediterranean Fever Abstracts at ACR24

Familial Mediterranean Fever (FMF) is an inherited disorder that primarily affects people of Mediterranean descent, such as those from Turkey, Armenia, and the Arab countries. The condition is characterized by recurring episodes of fever and inflammation, particularly in the abdomen, chest, and joints. These attacks can last from a few hours to several days and vary in intensity. FMF is caused by mutations in the MEFV gene, which encodes a protein involved in inflammation regulation. While there's no cure for FMF, treatments like colchicine can help manage symptoms and prevent long-term complications.

 Discover all Familial Mediterranean Fever abstracts from previous years

The 2024 American College of Rheumatology conference abstracts on Familial Mediterranean Fever

Liver Disease Complicating Familial Mediterranean Fever: A Study on 57 Patients from the French Adult JIR Cohort

This study investigates liver disease in patients with Familial Mediterranean Fever (FMF), a genetic autoinflammatory disorder. Researchers examined 57 patients from the French Adult JIR Cohort and found that 10.7% had chronic liver abnormalities, with 30% developing cirrhosis. The study highlights the delayed diagnosis of liver disease in FMF patients and suggests that inflammation plays a significant role in liver complications. The findings emphasize the need for regular monitoring and early intervention to manage liver involvement in FMF patients effectively. 

Path to Diagnosis in Familial Mediterranean Fever (FMF)

This study investigates the diagnostic journey for Familial Mediterranean Fever (FMF), focusing on the time from symptom onset to diagnosis and the various medical specialties involved. By surveying patients at an autoinflammatory clinic, researchers aim to understand the pathways to an FMF diagnosis and identify potential delays or barriers in the diagnostic process1. The findings will help improve early detection and management of FMF.

Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever 

This study explores a novel method to assess the pathogenicity of mutations in the Pyrin protein, which is associated with Familial Mediterranean Fever (FMF). By using mutual information (MI) to quantify the correlation between residue motions or fluctuations, researchers aim to predict how mutations affect protein function and disease severity. The study demonstrates that shifts in MI profiles can reveal insights into the molecular mechanisms underlying disease progression and help identify potential therapeutic targets.

The Needed Daily Dose of Colchicine in Patients with Familial Mediterranean Fever May Be Higher in Women, a Study on Behalf of the JIR Cohort

This study investigates whether the required daily dose of colchicine for managing Familial Mediterranean Fever (FMF) might be higher in women compared to men. By analyzing data from the French Adult JIR Cohort, researchers aim to determine if gender differences influence the effectiveness and dosage requirements of colchicine in FMF patients.

Machine Learning Algorithms to Predict Colchicine Resistance in Familial Mediterranean Fever

This study aims to develop machine learning algorithms to predict colchicine resistance in patients with Familial Mediterranean Fever (FMF). By analyzing clinical and genetic data from FMF patients, researchers hope to create models that can accurately identify patients who are likely to be resistant to colchicine, allowing for more personalized and effective treatment strategies. 

Iron Deficiency in Familial Mediterranean Fever: A Study on 211 Adult Patients from the JIR Cohort 

This study investigates the prevalence of iron deficiency in 211 adult patients with Familial Mediterranean Fever (FMF) from the JIR cohort. Researchers found that 31.8% of the patients were iron deficient, with a significant majority being women. Iron-deficient patients had lower hemoglobin levels, body mass index, and were generally younger compared to those without iron deficiency. The study suggests that iron deficiency in FMF patients, particularly in women, may contribute to increased fatigue and potentially more frequent disease attacks.

Canakinumab Treatment in Patients with Familial Mediterranean Fever: A Tertiary Center Experience 

This study evaluates the effectiveness and safety of canakinumab, a medication that targets interleukin-1 beta (IL-1β), in treating Familial Mediterranean Fever (FMF) patients. By analyzing data from a tertiary center, researchers aim to provide insights into how well canakinumab works for FMF patients, especially those who do not respond to traditional treatments like colchicine. The study highlights the potential of canakinumab as a valuable treatment option for managing FMF symptoms and preventing complications. 

Increased Risk of Psoriatic Arthritis in Patients with Familial Mediterranean Fever: A Population-Based Cohort Study

This population-based cohort study investigates the association between Familial Mediterranean Fever (FMF) and an increased risk of developing psoriatic arthritis (PsA). Researchers analyzed data from a large healthcare database, including around 4.9 million members, to compare the incidence of PsA in patients with FMF to those without FMF. The study found that FMF patients had a significantly higher risk of developing PsA, even after adjusting for demographic factors and comorbidities. This suggests that the chronic inflammation and immune dysregulation in FMF may contribute to the development of PsA.

Key Patient Take Aways

• FMF is a genetic autoinflammatory disorder that can cause chronic liver abnormalities and potentially lead to cirrhosis in some patients.
• The diagnostic process for FMF can be complex and may involve multiple medical specialties. There may be delays in diagnosis, highlighting the need for improved early detection strategies.
• Researchers are exploring new methods to assess the pathogenicity of mutations in the Pyrin protein, which is associated with FMF. These approaches could provide insights into disease mechanisms and help identify potential therapeutic targets.
• The required daily dose of colchicine, a common treatment for FMF, may be higher in women compared to men. This suggests that gender differences could influence treatment approaches for FMF.
• Machine learning algorithms are being developed to predict which FMF patients may be resistant to colchicine. These models could help personalize treatment plans and improve outcomes for patients who do not respond well to colchicine.
• Iron deficiency is common in FMF patients, particularly women, and may contribute to increased fatigue and more frequent disease attacks.
• Canakinumab, a medication that targets interleukin-1 beta (IL-1β), may be an effective treatment option for FMF patients who do not respond well to traditional therapies like colchicine.
• FMF patients may have an increased risk of developing psoriatic arthritis (PsA), suggesting that the chronic inflammation and immune dysregulation in FMF could contribute to the development of PsA.