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Familial Mediterranean fever in six Australian children
P J Moore1, A Mansour, J D McDonald
1Endocrinology Unit, Children's Hospital, Winnipeg, Manitoba, Canada.
Insights
Familial Mediterranean fever (FMF) was diagnosed in six Australian children, despite no family history. Colchicine prophylaxis effectively managed symptoms, suggesting increased recognition of FMF in Australia is likely.
Area of Science:
- Pediatrics
- Genetics
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
- Diagnosis can be challenging, especially in populations without a known family history.
- Undiagnosed FMF can lead to recurrent fever, abdominal pain, and unnecessary surgical interventions.
Purpose of the Study:
- To report on the diagnosis and management of FMF in Australian children.
- To highlight the importance of considering FMF in children presenting with recurrent fever and abdominal pain, even without a family history.
- To assess the efficacy of colchicine prophylaxis in this cohort.
Main Methods:
- Retrospective case series of six Australian children diagnosed with FMF.
- Review of clinical presentations, diagnostic criteria fulfillment, and treatment outcomes.
- Assessment of response to colchicine prophylaxis.
Main Results:
- Six children met the diagnostic criteria for FMF.
- None had a documented family history of FMF.
- Symptoms began before age five in all cases.
- Three children underwent unnecessary surgeries due to misdiagnosis.
- All six children responded positively to oral colchicine prophylaxis.
Conclusions:
- FMF should be considered in Australian children with recurrent fever and abdominal pain, particularly those from ethnic groups typically associated with the disease.
- Early diagnosis and treatment with colchicine can prevent complications and unnecessary surgeries.
- Increased recognition of FMF is anticipated in Australia due to its diverse population with Mediterranean heritage.
Abstract:
Six Australian children fulfilled the diagnostic criteria for familial Mediterranean fever. None had a family history of the disease, but five children came from ethnic groups that typically were associated with the disease. The symptoms commenced before five years of age in all the children, and three children underwent unnecessary operations because of the symptoms of recurrent fever and abdominal pain. All six children benefited from colchicine prophylaxis by mouth. More cases can be expected to be recognized in Australia because of the large number of Australian children with a Mediterranean heritage.