ABSTRACT
Background: Familial Mediterranean fever [FMF] has episodic or subclinical inflammation that may lead to a decrease in bone mineral density [BMD]. The objective of this study was to assess BMD in Egyptian children with FMF on genetic basis
Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes in the age range between 3-16 years old. The patients were reclassified into two groups, namely group I[A] with 23 cases using colchicine for 1 month or less, and group I[B] with 22 cases using colchicine for more than 6 months. For both the patients and control groups, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at the proximal femur and lumbar spines
Results: Four frequent gene mutations were found in the patient group E148Q [35.6%], V726A [33.3%], M680I [28.9%], and M694V [2.2%]. There were also four heterozygous gene mutations in 40% of the control children. Patients receiving colchicine treatment for less than 1 month had highly significant lower values of BMD at the femur and lumbar spines than the control children [P=0.007, P<0.001]. Patients receiving colchicine treatment for more than 6 months had improved values of BMD at femur compared with the control, but there were still significant differences between them in lumbar spine [P=0.036]. There were insignificant effect of gene mutation type on BMD and the risk of osteopenia among the patients
Conclusion: FMF had a significant effect on BMD. However, regular use of colchicine treatment improves this effect mainly at the femur