Updated: Jul 26
A study from the Juvenile Inflammatory Rheumatism cohort, Sbeih N., Georgin-Lavialle S. and al.
Familial Mediterranean Fever (FMF) is the most frequent monogenic autoinflammatory disease. Some patients have persistent symptoms despite a good control of the disease by its usual medication, called colchicine. Mast cells are innate immune cells involved in inflammatory conditions including autoinflammatory diseases. Their activation is responsible for various symptoms such as abdominal pain, bloating and pruritus.
Our objective was to evaluate features of a systemic mast cell activation in FMF adult patients.
FMF adult patients prospectively filled a mast cell activation survey and usual mast cell mediators (tryptase and histamine in whole blood, plasma and urine) were measured. They were compared with a healthy control group and a group of patients with systemic mastocytosis. When digestive biopsies were realized during follow-up, mast cell infiltration in digestive mucosa was analyzed in FMF, in comparison with systemic mastocytosis, Crohn disease and normal biopsies.
Forty-four FMF patients, 44 healthy controls and 44 patients with systemic mastocytosis were included. Thirty-one (70%) FMF patients had symptoms of mast cell activation, which was significantly higher compared to the healthy control group, in which 14 (32%) subjects had symptoms. Thirty (68%) FMF patients had at least one elevated mast cell mediator: mainly whole blood histamine, in 19 (43%) and urinary histamine, in 14 (32%), which were significantly higher than in healthy controls. Mast cell infiltration was comparable in FMF digestive biopsies, biopsies of Chron disease and normal biopsies but was lower than in systemic mastocytosis biopsies.
All in all, FMF patients show frequent symptoms of mast cell activation and an increase of blood or urinary histamine never described before in this disease. This suggests an implication of mast cells and possibly basophils in FMF pathophysiology. If our results are confirmed, drugs targeting histamine, basophils or mast cells could be useful for treating patients who present persistent symptoms despite current therapies.
A study from the Juvenile Inflammatory Rheumatism cohort, National Library of Medicine,June 2023 - Sbeih N., Georgin-Lavialle S. and al.
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