AB1258 CAMURATI-ENGELMANN DISEASE: EFFICACY OF ANTI-TNFALFA TREATMENT

Background Camurati-Engelmann disease (CED) is a rare osteosclerotic autosomal dominant condition responsible for chronic diaphyseal pain. It caused by mutations of Tumor Growth Factor β1 (TGFβ1 ) gene. Currently there are no validated therapies this condition. Objectives To test the efficacy anti-TNFα antibody in patient affected CED. Methods Etanercept 50 mg per week was administered with Data regarding pain and assumption glucocorticoids non-steroidal anti-inflammatory drugs were collected. Technetium-99m bone scintigraphy performed at baseline, after six months treatment. Results A 34-year-old woman came to our attention 2011 due lower upper limbs, especially localized diaphyses long bones. The symptoms began adolescence, but independently resolved during pregnancy. Two sisters her 16-year-old son presented similar clinical picture. She had features or laboratory findings compatible systemic autoimmune disease. In same year, along relevant imaging exams, genetic evaluation all family members performed, aim find hereditary Compatibly CED, mutation c.505G>A exon 2 TGF gene confirmed. Treatment daily glucocorticoids, losartan zoledronic acid 5 year administered, little benefit patient. During an 2022 she complained severe (visual analogue scale 8/10) unresponsive 6-methylprednisolone 8 indomethacin 100 daily. showed abnormal accumulation skull, humeral femoral diaphysis (Figure 1). Based on single case report CED Chron’s successfully treated success drug, we decided administer etanercept week. After 3 observed clear subjective objective improvement (VAS 4/10) reduction (150 weekly) 6-methyl prednisolone (4 daily). However, technetium-99m carried out later did not reveal document uptake tracer. Conclusion experienced significative treatment antibody. Our experience opens window possibly new therapeutic option which could be implemented traditional drugs. Figure 1. tracer skull bones diaphyses. REFERENCES: NIL. Acknowledgements: Disclosure Interests None Declared.