Familial Mediterranean fever gene as a possible modifier of Sweet syndrome with chronic myelogenous leukemia

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Published on: February 21, 2018

Takashi Miyoshi1, Kouhei Yamashita, Tatsuharu Ohno

  • 1Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Acta Haematologica
|October 1, 2008
PubMed

Insights

Sweet syndrome, a rare inflammatory disorder, may be linked to mutations in the MEFV gene, commonly associated with familial Mediterranean fever. This finding suggests shared inflammatory pathways between these distinct conditions.

Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Sweet syndrome is a rare, acute febrile neutrophilic dermatosis with unclear pathogenesis.
  • Proinflammatory cytokines are implicated, but specific genetic links remain largely unexplored.

Observation:

  • A patient with Sweet syndrome and chronic myelogenous leukemia was analyzed.
  • Genetic testing revealed compound heterozygous mutations (E148Q/R202Q) in exon 2 of the MEFV gene.

Findings:

  • This is the first documented instance of MEFV gene mutations in a patient with Sweet syndrome.
  • The identified MEFV mutations are known to cause familial Mediterranean fever.

Implications:

  • The findings suggest a potential genetic predisposition or shared inflammatory mechanisms between Sweet syndrome and familial Mediterranean fever.
  • Further research into MEFV gene involvement could elucidate Sweet syndrome pathogenesis and inform therapeutic strategies.

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