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Familial Mediterranean fever. A case report

E A Nichols, R F Reder

    American Journal of Diseases of Children (1960)
    |December 1, 1978
    PubMed
    Summary

    Familial Mediterranean fever (FMF) diagnosis can be challenging, even with symptoms like proteinuria. Early colchicine treatment proved effective for a young girl, highlighting FMF

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    Area of Science:

    • Rheumatology
    • Pediatrics
    • Genetics

    Background:

    • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
    • It is characterized by recurrent episodes of fever and serositis.
    • Diagnostic challenges arise, particularly in non-Mediterranean populations.

    Observation:

    • A young girl presented with symptoms suggestive of FMF, including intermittent fever and proteinuria.
    • A rectal biopsy did not reveal amyloidosis, a common complication of untreated FMF.
    • The patient's clinical presentation posed typical diagnostic dilemmas.

    Findings:

    • The patient responded well to supportive therapy and colchicine treatment.
    • This case underscores the importance of considering FMF in undiagnosed fever presentations.
    • Negative amyloidosis on biopsy does not exclude FMF.

    Implications:

    • FMF should be included in the differential diagnosis for fever of unknown origin, especially in diverse populations.
    • Timely diagnosis and treatment with colchicine can prevent long-term complications.
    • Further research into genetic and diagnostic markers for FMF is warranted.

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