AB1448 BISPHOSPHONATES IN (MONA) SPECTRUM DISORDER: TWO CASE REPORTS

• Published in: Annals of the rheumatic diseases Vol. 82; no. Suppl 1; p. 1952
• Main Authors: Bencharif, I, Bendjenna, D, Kitouni, Y
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01.06.2023
• Subjects: Bisphosphonates; Case reports; Cognition; Fractures; Gelatinase A; Hirsutism; Long bone; Matrix metalloproteinase; Metalloproteinase; Osteolysis; Osteoporosis; Pain; Range of motion; Skin diseases; Skin lesions; Zoledronic acid
• ISSN: 0003-4967; 1468-2060
• DOI: 10.1136/annrheumdis-2023-eular.4065

BackgroundMulticentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. It characterized by multiple peripheral osteolysis, wide metacarpals, osteoporosis, progressive joint contractures, short stature, subcutaneous nodules as well as a coarse face, skin lesions/hirsutism and ocular and cardiac manifestations. The diagnosis is based on the typical clinical features together with normal laboratory findings, which allow this disease to be distinguished from other syndromes, including fibrotic, rheumatic and lysosomal diseases. Treatment options are limited.ObjectivesBisphosphonates in (MONA) spectrum disorder may be an alternative therapeutic approach.MethodsWe present successful bisphosphonate therapy in two affected sisters, A.N, ten-year-old and A.I, seven-year-old, presented with history of fractures of their long bones after trivial traumas with progressive painful deformities in hands and feet with limitation motion. They were treated with bisphosphonates (intravenous zoledronate every 6 months). The following outcome variables were assessed: skeletal pain, range of motion, internal medical problems as well as neurocognitive function.ResultsSkeletal pain was reduced soon after initiation of therapy. Range of motion did not significantly improve. Neurocognitive development was normal. No further low-impact fractures occurred after starting bisphosphonate therapy. Although the nature of the disease is progressive, they are still able to walk and use their hands for writing.ConclusionBisphosphonate therapy was effective especially in controlling skeletal pain and reducing fractures in MONA spectrum disorder. Early initiation of treatment seems to be particularly important in order to achieve the best possible outcome.Reference[1] Pichler, K. et al. Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach. Sci. Rep. 6, 34017; doi: 10.1038/srep34017 (2016)Acknowledgements:NIL.Disclosure of InterestsNone Declared.