The Many Faces of Familial Mediterranean Fever in Children: Lessons From a Moroccan Cohort and Four Diagnostic Pitfalls.
- 1Pediatrics, Mohammed VI University Hospital, Oujda, MAR.
- 2Pediatrics, Faculty of Medicine and Pharmacy, Mohammed VI University Hospital, Mohammed First University, Oujda, MAR.
Abstract
Introduction
Familial Mediterranean fever (FMF) is the prototypical hereditary autoinflammatory disease. Inherited in an autosomal recessive pattern, it is associated with mutations in the MEditerranean FeVer (MEFV) gene. Its clinical heterogeneity poses a major diagnostic challenge in pediatrics, particularly in developing countries where access to genetic testing remains limited.Objectives
To describe the clinical, epidemiological, biological, and genetic characteristics of pediatric FMF in the Oriental region of Morocco and to document diagnostic pitfalls through illustrative case reports.Materials and methods
A retrospective descriptive study including 14 children followed for FMF in the Pediatrics Department of the Mohammed VI University Hospital in Oujda over an 11.5-year period (January 2015 to June 2026). The diagnosis was based on the Yalçınkaya-Özen pediatric criteria and/or genetic confirmation via MEFV gene sequencing.Results
The mean age at diagnosis was 6.5 years (range: 2-14 years). A marked male predominance was observed in 12 (85.7%); sex ratio (6:1). Parental consanguinity was present in 5/14 (35.7%) of cases. All patients were from the Oriental region 14/14 (100.0%). The predominant clinical manifestations were recurrent fever in 14 (100.0%), abdominal pain in 12/14 (85.7%), and arthralgia/arthritis in 11/14 (78.6%). MEFV gene sequencing was positive in 9/14 (64.3%) of patients, with a predominance of the M694V mutation in 5/14 (35.7%), of whom 3/5 (60.0%) were homozygous. Four illustrative case reports document atypical presentations that resulted in a diagnostic delay of more than two years: a polyarticular form mimicking juvenile idiopathic arthritis (JIA), a coronary aneurysm mistaken for Kawasaki disease, recurrent febrile seizures, and predominantly erysipelas-like erythema. Colchicine was effective in all 14/14 (100.0%) treated cases. No amyloid amyloidosis (AA) was detected during follow-up.Conclusion
Pediatric FMF is underdiagnosed in the Oriental region of Morocco. Its clinical polymorphism leads to diagnostic delays with harmful consequences. A rigorous clinical evaluation supported by targeted genetic sequencing is essential for early diagnosis and prompt initiation of colchicine therapy.
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BibTeX
@article{kerim2026many,
title = {{The Many Faces of Familial Mediterranean Fever in Children: Lessons From a Moroccan Cohort and Four Diagnostic Pitfalls.}},
author = {Mahy Mohamed El Kerim and Anane Sara and Hasnae Elhaddadi and Aziza Elouali and Maria Rkain and Abdeladim Babakhouya},
journal = {Cureus},
year = {2026},
month = oct,
doi = {10.7759/cureus.117361},
url = {https://europepmc.org/article/MED/42968970},
note = {CC BY},
}
RIS
TY - JOUR
TI - The Many Faces of Familial Mediterranean Fever in Children: Lessons From a Moroccan Cohort and Four Diagnostic Pitfalls.
AU - Mahy Mohamed El Kerim
AU - Anane Sara
AU - Hasnae Elhaddadi
AU - Aziza Elouali
AU - Maria Rkain
AU - Abdeladim Babakhouya
PY - 2026
DA - 2026/10/02
JO - Cureus
DO - 10.7759/cureus.117361
UR - https://europepmc.org/article/MED/42968970
AB - Introduction Familial Mediterranean fever (FMF) is the prototypical hereditary autoinflammatory disease. Inherited in an autosomal recessive pattern, it is associated with mutations in the MEditerranean FeVer (MEFV) gene. Its clinical heterogeneity poses a major diagnostic challenge in pediatrics, particularly in developing countries where access to genetic testing remains limited.Objectives To describe the clinical, epidemiological, biological, and genetic characteristics of pediatric FMF in the Oriental region of Morocco and to document diagnostic pitfalls through illustrative case reports.Materials and methods A retrospective descriptive study including 14 children followed for FMF in the Pediatrics Department of the Mohammed VI University Hospital in Oujda over an 11.5-year period (January 2015 to June 2026). The diagnosis was based on the Yalçınkaya-Özen pediatric criteria and/or genetic confirmation via MEFV gene sequencing.Results The mean age at diagnosis was 6.5 years (range: 2-14 years). A marked male predominance was observed in 12 (85.7%); sex ratio (6:1). Parental consanguinity was present in 5/14 (35.7%) of cases. All patients were from the Oriental region 14/14 (100.0%). The predominant clinical manifestations were recurrent fever in 14 (100.0%), abdominal pain in 12/14 (85.7%), and arthralgia/arthritis in 11/14 (78.6%). MEFV gene sequencing was positive in 9/14 (64.3%) of patients, with a predominance of the M694V mutation in 5/14 (35.7%), of whom 3/5 (60.0%) were homozygous. Four illustrative case reports document atypical presentations that resulted in a diagnostic delay of more than two years: a polyarticular form mimicking juvenile idiopathic arthritis (JIA), a coronary aneurysm mistaken for Kawasaki disease, recurrent febrile seizures, and predominantly erysipelas-like erythema. Colchicine was effective in all 14/14 (100.0%) treated cases. No amyloid amyloidosis (AA) was detected during follow-up.Conclusion Pediatric FMF is underdiagnosed in the Oriental region of Morocco. Its clinical polymorphism leads to diagnostic delays with harmful consequences. A rigorous clinical evaluation supported by targeted genetic sequencing is essential for early diagnosis and prompt initiation of colchicine therapy.
SN - 2168-8184
ER -