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Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever
Samia Salah1, Sahar A El-Masry2, Hala Fathy Sheba3
1Rheumatology Department, Abo El-Rish Children Hospital, Cairo University, Giza, Egypt.
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.
Insights
Familial Mediterranean Fever (FMF) significantly impacts bone mineral density (BMD) in children. Regular colchicine treatment can improve FMF-related BMD deficits, particularly in the femur.
Area of Science:
- Pediatrics
- Rheumatology
- Genetics
Background:
- Familial Mediterranean Fever (FMF) is associated with inflammation that can reduce bone mineral density (BMD).
- Assessing BMD in Egyptian children with FMF, considering genetic factors, is crucial for understanding disease impact.
Purpose of the Study:
- To evaluate bone mineral density (BMD) in Egyptian children diagnosed with Familial Mediterranean Fever (FMF).
- To investigate the influence of genetic mutations and colchicine treatment duration on BMD in pediatric FMF patients.
Main Methods:
- A cross-sectional study involving 45 FMF patients and 25 controls (ages 3-16).
- Patients were categorized based on colchicine treatment duration (≤1 month vs. >6 months).
- MEFV gene mutations and BMD (femur, lumbar spine) were assessed using molecular genetics and DXA scans.
Main Results:
- Four common MEFV mutations (E148Q, V726A, M680I, M694V) were identified in FMF patients.
- Short-term colchicine use (<1 month) was linked to significantly lower BMD in both femur and lumbar spine compared to controls.
- Long-term colchicine use (>6 months) showed improved femur BMD, though lumbar spine BMD remained significantly lower than controls.
- No significant association was found between specific gene mutation types and BMD or osteopenia risk.
Conclusions:
- Familial Mediterranean Fever (FMF) demonstrably affects bone mineral density (BMD) in children.
- Consistent colchicine therapy plays a vital role in mitigating FMF's negative impact on BMD, especially at the femur.
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