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Familial Mediterranean fever in Jordanian Children: single centre experience
Raed Alzyoud1, Motasem Alsweiti1, Hiba Maittah1
1Division of Paediatric Immunology, Allergy, and Rheumatology.
Background:
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the Mediterranean Fever (MEFV) gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. Our aim is to describe clinical phenotype, and genotype of FMF in the Jordanian children.
Patients And Methods:
A retrospective analysis was conducted on paediatric patients who were below 14 years of age and diagnosed as FMF at Queen Rania Children's Hospital in Jordan between 2014 and 2017.
Results:
A total of 196 paediatric patients diagnosed with FMF were included; 54% females and 46% males. The mean age of patients at time of study was 7.8 years, at disease onset was 4.9 years, and at time of diagnosis was 6.6 years. The most common presenting features were abdominal pain (91.8%), fever (73%), arthralgia (16.8 %), and myalgia (12.8%). MEFV gene mutations were homozygous in 47 (24%) patients, heterozygous in 87 (44.4%) patients, compound heterozygous in 55 (28.1%), and negative genotype in 7 (3.6%) patients. Five mutations were the most frequent; M694V, V726A, E148Q, M680I, M694I. All patients were colchicine responsive. We reported only one case of amyloidosis.
Conclusion:
The five FMF founder mutations: M694V, V726A, E148Q, M680I, and M694I were the most common in Jordanian children, but had a different order from other ethnic groups.
Insights
Familial Mediterranean fever (FMF) in Jordanian children is linked to specific MEFV gene mutations. These mutations, while common in the region, show a different frequency order compared to other ethnic groups, impacting disease presentation.
Area of Science:
- Genetics
- Pediatrics
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory disease.
- It is caused by mutations in the Mediterranean Fever (MEFV) gene.
- FMF is prevalent in populations of Mediterranean ancestry.
Purpose of the Study:
- To characterize the clinical phenotype and genotype of FMF in Jordanian children.
- To identify common MEFV gene mutations in this population.
Main Methods:
- Retrospective analysis of pediatric FMF patients under 14 years old.
- Data collected from Queen Rania Children's Hospital between 2014 and 2017.
- Analysis included clinical presentation and MEFV gene mutation status.
Main Results:
- 196 pediatric patients diagnosed with FMF were analyzed.
- Abdominal pain and fever were the most common symptoms.
- The most frequent MEFV mutations were M694V, V726A, E148Q, M680I, and M694I, with varying genotype patterns (homozygous, heterozygous, compound heterozygous).
- All patients responded to colchicine treatment, with a low incidence of amyloidosis.
Conclusions:
- The study identified the most common FMF founder mutations in Jordanian children.
- The frequency order of these mutations differs from other ethnic groups.
- Understanding these genetic patterns is crucial for FMF diagnosis and management in the region.
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