A young unmarried Lebanese woman presenting with periodic disease (familial paroxysmal polyserositis) since she was 3 months old developed recurrent abundant ascites at the age of 21 years. Several hundred millilitres of strongly eosinophilic fluid were evacuated. Exploratory laparotomy unexpectedly disclosed an encapsulating peritonitis with adhesions involving the small bowel and the ascending colon; there were masses of lipid-laden cells, clusters of cholesterol/crystals and marked mesoepithelial reaction. In view of the patient's dramatic response to colchicine 2 mg/day, these findings were regarded as being related to the periodic disease.
Download full-text PDF |
Source |
---|
Rheumatology (Oxford)
March 2025
Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.
Objective: To assess the phenotypic characteristics of the patients carrying variants of uncertain significance (VUS) in the Mediterranean fever (MEFV) gene.
Methods: The study included patients carrying only VUS in the MEFV gene. Patients were excluded if they did not meet the pediatric criteria for familial Mediterranean fever (FMF).
Arch Rheumatol
December 2024
Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, İzmir, Türkiye.
Objectives: This study aimed to evaluate the rate of successful transitions, identify factors associated with early versus late transitions, and diagnosis and treatment changes after transition into adult rheumatology.
Patients And Methods: In this retrospective study, patients with childhood-onset rheumatic diseases who transitioned from pediatric to adult rheumatology care between January 2013 and January 2023 were screened for a successful transition. Successful transitions were defined as maintaining annual visits to the adult rheumatology clinic after transition.
Eur J Case Rep Intern Med
February 2025
Instituto Aggeu Magalhães, Fundação Oswaldo Cruz (IAM/Fiocruz), Recife, Brazil.
Unlabelled: Familial Mediterranean fever (FMF) is traditionally associated with biallelic mutations in the MEFV gene; however, heterozygous mutations may also contribute to disease phenotypes. We report the case of a 42-year-old woman with heterozygous p.Met694Ile MEFV mutation, presenting with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis involving the central nervous system and lungs.
View Article and Find Full Text PDFScand J Gastroenterol
March 2025
Azrieli's Faculty of Medicine, Bar-Ilan University, Safed, Israel.
Introduction: Chronic effect of colchicine on the liver was not studied enough. We aimed to examine the association between long term colchicine use and incident cirrhosis among new colchicine initiators.
Study: Using database of Maccabi Healthcare Services (MHS), we included all patients aged ≥18 years old who initiated colchicine between 1 January 2000 and 31 December 2018 and followed them until the earliest of the following: incident cirrhosis, leaving MHS, death or 31 December 2020.
Mod Rheumatol Case Rep
March 2025
Department of Medicine and Biosystem Science, Graduate School of Medical Science, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Macrophage activation syndrome (MAS) is an autoinflammatory condition, which severely complicates autoimmune diseases, such as SJIA, AOSD and SLE. MEFV gene encodes a component of Pyrin inflammasome, whose variants cause familial Mediterranean fever (FMF). We experienced a recurrent MAS case with homozygous MEFV P369S variants accompanied with Sjogren syndrome and pulmonary arterial hypertension, whose recurrent MAS was successfully treated with canakinumab.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!