Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the
matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. Herein we present successful
bisphosphonate therapy in three affected patients. Patients were treated with
bisphosphonates (either
pamidronate or
zoledronate) for different time periods. The following outcome variables were assessed: skeletal
pain, range of motion, bone densitometry, internal medical problems as well as neurocognitive function. Skeletal
pain was dramatically reduced in all patients soon after initiation of
therapy and bone mineral density increased. Range of motion did not significantly improve. One patient is still able to walk with
aids at the age of 14 years. Neurocognitive development was normal in all patients.
Bisphosphonate therapy was effective especially in controlling skeletal
pain in MONA spectrum disorder. Early initiation of treatment seems to be particularly important in order to achieve the best possible outcome.