Abstract
PURPOSE: the purpose of this study was to describe the baseline characteristics, presenting phenotype and treatment interventions for patients diagnosed with multiple osteochondromas who presented with severe pain symptoms. METHODS: a retrospective single-centre cohort study was conducted at a Rare Skeletal Disorders Department. Pain symptomatology was measured at the first visit, pain level was reported, varying from 0, absence of pain to 10, maximum pain. Baseline characteristics, pathology phenotype using IOR classification and treatments performed/ongoing as medical, surgical and conservative therapies were collected. RESULTS: a total of 152 patients were enrolled, with a median pain score of 0 and the 25th and 75th percentiles of 0 and 4, respectively. A percentage of 25.7 % (95 % CI of 19.3-33.3) presented at the first visit with moderate/severe pain. Multiple logistic regression confirmed that age was the only factor to be significantly associated with moderate/severe pain and IOR classification was not able to provide a description of the pathology that was associated with a major pain score. CONCLUSION: from the early stages of multiple osteochondromas diagnosis, pain symptoms must be carefully assessed. An increase in age is associated with a worsening of pain; IOR classification of the multiple osteochondromas phenotype does not currently allow an association between the various classes and pain. A re-evaluation of the classification in this light could be an important new element for clinical practice.