Sira AM, Shoeir SA, Sira MM. Cachexia as an unusual presentation of familial Mediterranean fever: A case report. World J Clin Cases 2026; 14(3): 117165 [DOI: 10.12998/wjcc.v14.i3.117165]
Corresponding Author of This Article
Mostafa Mohamed Sira, MD, Professor, Department of Pediatric Hepatology, Gastroenterology, and Nutrition, National Liver Institute, Menoufia University, Gamal Abdel Nasser Street, Shebin El-Koom 32511, Menoufia, Egypt. msira@liver.menofia.edu.eg
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Pediatrics
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Jan 26, 2026 (publication date) through Jan 23, 2026
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World Journal of Clinical Cases
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Sira AM, Shoeir SA, Sira MM. Cachexia as an unusual presentation of familial Mediterranean fever: A case report. World J Clin Cases 2026; 14(3): 117165 [DOI: 10.12998/wjcc.v14.i3.117165]
World J Clin Cases. Jan 26, 2026; 14(3): 117165 Published online Jan 26, 2026. doi: 10.12998/wjcc.v14.i3.117165
Cachexia as an unusual presentation of familial Mediterranean fever: A case report
Ahmed Mostafa Sira, Samar Ahmed Shoeir, Mostafa Mohamed Sira
Ahmed Mostafa Sira, Department of Pediatrics, Tanta General Hospital, Egyptian Ministry of Health and Population, Tanta 31511, Al Gharbīyah, Egypt
Samar Ahmed Shoeir, Mostafa Mohamed Sira, Department of Pediatric Hepatology, Gastroenterology, and Nutrition, National Liver Institute, Menoufia University, Shebin El-Koom 32511, Menoufia, Egypt
Co-first authors: Ahmed Mostafa Sira and Samar Ahmed Shoeir.
Author contributions: Sira AM contributed to data curation, project administration, supervision; Sira AM and Shoeir SA contributed to follow-up and they contributed equally to this manuscript as co-first authors; Sira AM, Shoeir SA, and Sira MM contributed to conceptualization, investigation, methodology, writing the original draft; and all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the participants’ legal guardians for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mostafa Mohamed Sira, MD, Professor, Department of Pediatric Hepatology, Gastroenterology, and Nutrition, National Liver Institute, Menoufia University, Gamal Abdel Nasser Street, Shebin El-Koom 32511, Menoufia, Egypt. msira@liver.menofia.edu.eg
Received: December 1, 2025 Revised: December 15, 2025 Accepted: January 6, 2026 Published online: January 26, 2026 Processing time: 53 Days and 9.9 Hours
Abstract
BACKGROUND
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent fever and polyserositis (e.g., peritonitis, pleuritis, and arthritis). However, diagnosing atypical cases remains challenging.
CASE SUMMARY
A 9-year-old girl had a history of progressive loss of appetite, weight loss, and myalgia over the preceding three months. She developed high-grade fever over the preceding three weeks, occasionally associated with abdominal pain. The girl is one of a triplet; neither of the other two sisters had similar symptoms. Family history was irrelevant. She presented with cachexia, generalized body aches, and fever without evident arthritis. She had splenomegaly and a markedly elevated erythrocyte sedimentation rate. After exclusion of rheumatological and malignant causes, FMF was suspected. Serum amyloid A was high. The patient received colchicine therapy. There was a significant improvement in her symptoms with normalization of acute-phase reactants. Polymerase chain reaction test for FMF gene mutation returned negative.
CONCLUSION
FMF can present with atypical symptoms. Detailed history and meticulous clinical evaluation were key clues suggesting the diagnosis.
Core Tip: Familial Mediterranean fever is classically defined by recurrent episodes of spontaneous serositis with fever, but some children present with significant inflammation despite lacking these typical features. This case describes a 9-year-old girl with cachexia, debilitating myalgia, and recurrent fever, an atypical phenotype that created substantial diagnostic difficulty, especially with negative MEditerranean FeVer gene mutation testing. Her course underscores how familial Mediterranean fever may manifest beyond standard criteria and why clinicians must look beyond genetic results. A detailed history and careful clinical assessment were ultimately key to recognizing the disease.
