Title |
Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever
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Published in |
Orphanet Journal of Rare Diseases, June 2015
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DOI | 10.1186/s13023-015-0295-9 |
Pubmed ID | |
Authors |
Fawaz Awad, Sophie Georgin-Lavialle, Anne Brignier, Coralie Derrieux, Achille Aouba, Katia Stankovic-Stojanovic, Gilles Grateau, Serge Amselem, Olivier Hermine, Sonia-Athina Karabina |
Abstract |
We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome. Plasma levels of IL-6 and IL-18 were found to be very high, as compared to healthy controls and CMML-free FMF patients.Our study unveils the interplay between two different disorders involving the same target cells, suggesting that in myelodysplasia with inflammatory manifestations, mutations in genes causing autoinflammatory syndromes, like MEFV, can be present and thus could be sought. Early chemotherapy with interleukin inhibitors could be proposed in such unusual situations. |
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