Osteopetrosis is defined by osteoclast failure that leads to high bone mineral density. In adults, the major complications are atypical fractures with an unusual delay of fracture consolidation, but also loss of vision and hearing, splenomegaly or marrow failure. Because of this multiple complications, we here described the need of multidisciplinary team for the management of the disease and complications. We highlighted the contribution of patient organization and the requirement of patient-reported outcomes to delineate the natural history and the improve awareness of the disease. Concerns about the disease were collected by questionnaire in 16 adult patients with ADO2 osteopetrosis (mean age 43 ± 16 years). Patients reported anxiety and fears of disability in 56 % and their concerns about the disease transmission (53 %). Most pointed out the insufficient training of clinicians and expressed the fear of inappropriate management in case of fracture. Expectations were a better recognition of disabilities by health systems. Key-word cloud from an open question revealed that bone and joint pain was the main concern. In conclusion, the contribution of patient organization and better training may improve awareness of the disease by healthcare professionals and policy-makers and reduce the burden of osteopetrosis.