The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort.

Author: Di Cola et al.

Ref : Di Cola et al, Arthritis Res Ther. 2025 Mar 19;27(1):59.

Link to article: https://pubmed.ncbi.nlm.nih.gov/40108720/

Summary

To date, no data exist on the relationship between daily colchicine dosage and body weight in patients with Familial Mediterranean Fever (FMF). This question is frequently raised by patients or their parents during consultations. The objective of our study was to describe the daily colchicine dosage in a cohort of patients with FMF.

We conducted a retrospective analysis from 2016 to 2023 on adult FMF patients who were prospectively followed at the French National Reference Center for Auto-inflammatory Diseases at Tenon Hospital.

Among the 272 patients studied, 149 were women (57.8%), with a mean age of 43 years. The average weight was 67.8 kg, and the mean BMI was 24.2 kg/m². Colchicine was taken by 96% of the patients. A subgroup of 30 patients was receiving 2.5 mg/day of colchicine: the majority were women (n=23; 76.7%; p=0.018), with a significantly lower average weight (p=0.019); in fact, 26 out of 30 (87%) weighed less than 50 kg. Female sex was associated with a higher daily dose of colchicine (p=0.0208), whereas no significant correlation was found with weight (p=0.4073).

No signs of toxicity were observed in patients receiving 2.5 mg/day of colchicine, including those weighing under 50 kg, the majority of whom were women.

One hypothesis is that this increased need for colchicine in some women may be related to hormonal factors, with a possible hyperactivation of pyrin.

This is the first study to examine the relationship between weight and colchicine dosage in adults with FMF, highlighting a potential link with female sex.

This work provides reassurance to patients receiving 2.5 mg/day of colchicine: there is no toxicity at this dose in the absence of renal impairment.

La dose quotidienne nécessaire de colchicine chez les patients atteints de Fièvre Méditerr.

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Iron Deficiency in Familial Mediterranean Fever: A Studyon 211 Adult Patients From the JIR Cohort

First author: Ilenia Di Cola et al

Review: American Journal of Hematology

Link to article: https://doi.org/10.1002/ajh.27549

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, associated with mutations in the MEFV gene. Patients experience recurrent and self-limited episodes of fever, abdominal pain, and chest pain. There is no specific association between anemia and FMF, except that patients with chronic inflammation may have inflammatory microcytic anemia.

However, chronic anemia can lead to fatigue, and fatigue is known to be a trigger for FMF. Therefore, patients with fatigue due to anemia may experience more frequent flare-ups of the disease and a reduced quality of life. Iron deficiency can cause fatigue even in the absence of anemia. Fatigue is also commonly reported in FMF. Therefore, it may be beneficial to check for iron deficiency without anemia as one of the causes of fatigue in FMF, especially since fatigue can be considered a trigger for their flare-ups.

Our study explores the prevalence of iron deficiency in 211 adult patients with Familial Mediterranean Fever (FMF). The main goal was to determine the association between iron deficiency (defined by ferritin < 27 ng/mL) and various clinical, biological, and therapeutic parameters.

In total, 31.8% of FMF patients had ferritin < 27 ng/mL, mostly young women. Iron deficiency, even without anemia, potentially contributes to fatigue, a frequent trigger of inflammatory flare-ups. Possible causes include excessive menstrual losses not compensated by a diet rich in iron, low consumption of animal proteins, or digestive bleeding exacerbated by the use of NSAIDs.

Patients with low ferritin had lower hemoglobin (Hb) levels and BMI, and required higher doses of colchicine (2 mg/day on average). The impact of colchicine on intestinal iron absorption remains to be studied.

This work highlights the importance of monitoring ferritin levels in Familial Mediterranean Fever (FMF) due to the simplicity and global accessibility of this test, including in emerging countries. In the case of significant iron deficiency, supplementation is recommended to alleviate symptoms such as fatigue and anemia, which can trigger FMF flare-ups and maintain a vicious cycle of fatigue in patients.

Iron deficiency in FMF.pdf

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Clostridioides difficile infection as a potential trigger for Familial Mediterranean Fever attacks and fecal transplantation as a rescue

Premier auteur: Sophie Georgin-Lavialle

Revue: European Journal of Internal Medicine

Le lien vers l'article: https://doi.org/10.1016/j.ejim.2024.05.023

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease in the world. It is associated with mutations in the MEFV gene, which encodes pyrin.

The diagnosis of Clostridium difficile infection is complex in patients with FMF, as during FMF crises, the most frequent symptoms include febrile abdominal pain accompanied by a biological inflammatory syndrome, manifestations common to both conditions.

The B toxin of Clostridium difficile is a specific activator of the pyrin inflammasome.

Clostridium difficile infection complicating FMF is a rare but serious and potentially fatal infection.

It should be suspected in FMF patients presenting with unexplained persistent inflammation and/or chronic abdominal pain and/or unusual diarrhea.

=> The B toxin of C. difficile can then be tested in stool samples to exclude a false resistance to colchicine and avoid mistakenly starting anti-interleukin 1 biotherapy.

=> C. difficile infection in an FMF patient must be actively treated, including fecal transplantation if necessary.

Clostridioides difficile infection as a potential trigger for Familial Mediterranean Fever.

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