In Atlanta, patients with Familial Mediterranean Fever (FMF) do not have a specific specialist and may remain in the care of a pediatric gastroenterologist as a consequence. Fortunately, when the diagnosis is established, an effective treatment, colchicine, is available (J Pediatr 2012; 161: 1142-6).
Specific pointers in this reference:
- Often the diagnosis of FMF is a clinical one as 2 mutations (MEFV gene) are found in only 38-72% of patients.
- Mean age of onset is 1.1 years, but due to diagnostic delays, mean age of treatment is 3.2 years. Early in life, fever attacks may be the only recognizable feature. Several years later serositis typically develops.
- Colchicine prophylaxis is recommended for all patients diagnosed with FMF
- In this 4-year study of 153 patients (all younger than 17 years), 22 (14.4%) developed diarrhea with colcichine and required dose reduction.
- 18 patients (11.8%) had transient mild increase in transaminases (max ALT 152 IU/L). One mechanism of liver toxicity for colchicine may be to increase NAFLD.
- Colcichine dosing in the study: 0.5 mg daily in 11 children (<4 years), 1 mg in 105 patients, 1.5 mg in 19 patients, and 2 mg in 18 patients.
- Previous recommendations for colchicine dosing in literature were for 0.5 mg for <5 year olds, 1 mg for 5-10 year olds, 1.5 mg for >10 years of age. In this center, most patients receive 1 mg by 2 years of age.
- In the discussion, the article reviewed the literature showing colchicine seemed to be safe during pregnancy and few adverse effects.