Diagnostic Tool Helps Identify Familial Mediterranean Fever

The immunological screening tool is based on inflammasome activation, by detecting changes in the body's immune reaction to pyrin, a protein usually mutated in FMF.

Pyrin inflammasome activation persists in the peripheral blood mononuclear cells (PBMCs) of FMF patients, but not in the cells of patients afflicted with other autoinflammatory diseases. The researchers used Clostridium difficile and its enterotoxin A (TcdA) as the Pyrin-activating agents, and showed that wild-type and FMF pyrin are differentially controlled by cell microtubules. Following successful tests on mice, it has been validated in 13 patients in collaboration with physicians from Belgium and Italy. The study was published on October 28, 2016, in PNAS.

“We are setting up clinical trials in Belgium for which we are actively seeking volunteers, both FMF patients and people suffering from related inflammatory disorders,” said lead author Professor Mohamed Lamkanfi, of VIB and Ghent University. “In addition, labs from the Netherlands and Italy have already expressed interest. We are also exploring possible collaborations with industrial partners in order to make our method available as a diagnostic kit.”

FMF is a hereditary disease caused by mutations in Mediterranean Fever gene, which encodes a amino acid protein called pyrin. While all ethnic groups are susceptible to FMF, it usually occurs in the Mediterranean basin, including the Middle East and the Caucasus. It has a prevalence of 1-2 patients per 1,000 inhabitants. FMF is usually diagnosed during childhood, after which a daily, lifelong treatment is necessary. Wrong or late diagnosis often even leads to unnecessary surgery and, ultimately, kidney failure due to amyloid accumulation.

Related Links:
Ghent University
Flanders Interuniversity Institute for Biotechnology