FMF in heterozygotes: are we able to accurately diagnose the disease in very young children?

Results Presenting signs in heterozygous children did not differ from homozygous or compound heterozygous patients. Initial response to colchicine was identical in the two groups. During follow-up heterozygous patients were more likely to have a milder course of the disease. After puberty clinical signs of FMF totally disappeared in 6/11 heterozygous patients. In these 6 patients, colchicine could be withdrawn without recurrence of symptoms or rise of inflammatory markers. If applied after puberty, clinical diagnostic criteria sets were no longer positive in these 6 patients, whereas the same criteria applied retrospectively during early childhood concluded to FMF. Conclusion Our study suggests that the diagnosis of FMF in very young heterozygous children should be cautious. Heterozygous children can present with an FMF-like disease during early childhood that may disappear with age, while others will suffer lifelong from their disease. Only a careful follow-up of FMF heterozygotes allows an accurate diagnosis over time.