Osteoporosis in Systemic Mastocytosis: A Scoping Review

Abstract

Background: Mastocytosis (MS) is a rare disease that can involve various organs, including the bone. Given the incidence of the disease in the global population, MS poses a challenge for physicians, and early therapeutic intervention in the initial stages could significantly impact the quality of life of affected patients. Objective: The aim of this scoping review was to provide an overview of secondary osteoporosis in systemic mastocytosis (SM), focusing on the heterogeneity of its manifestations, the benefits of early diagnosis, and appropriate pharmacological treatment. Design: A technical expert panel (TEP) consisting of 8 physicians with expertise in metabolic bone diseases conducted the review following the PRISMA-ScR model. A strength of this study is that it provides various therapeutic approaches for patients with bone involvement in SM, although the limited available literature on the topic constituted a limitation. The TEP sought evidence regarding the following diagnostic and therapeutic modalities in the management of SM: "bisphosphonate therapy", "zoledronic acid therapy", "denosumab therapy", "IFN-alpha therapy", and "IFN-alpha therapy in combination with pamidronate". Results: Clinical data showed a correlation between densitometric outcomes, serum tryptase levels, and mast cell infiltration in the bone marrow, between increased bone mineral density and the presence of osteosclerosis in cases of advanced SM, between the severity of osteoporosis and hypertryptasemia, and also provided results on the long-term effects of bisphosphonate therapy, the therapeutic efficacy of zoledronic acid administration, the positive effect of denosumab on the reduction of serum tryptase levels (even if is proved in a limited numbers of cases) and the prevention of new fractures, and the effect of IFN-alpha in more severe cases of SM, either alone or in combination with pamidronate. Conclusions: Studies have demonstrated the effectiveness of various treatments depending on the form of mastocytosis, whether indolent systemic or advanced systemic, in the prognosis of the disease. However, this role should be further investigated in additional clinical studies, considering the limited data on the use of these interventions.

Keywords: BMD; bisphosphonate drug therapy; bone densitometry; bone scintigraphy; denosumab; osteoporotic fractures; radiography; secondary osteoporosis; systemic mastocytosis; vertebral morphometry.

Figure 1

PRISMA-ScR flow diagram of the study selection process. ** Legend. Initially, the TEP found 2930 articles in the PubMed database. Based on the titles and abstracts, and following our exclusion criteria, a total of 2886 articles were excluded. Additionally, 39 articles were excluded after reading the full text because they did not meet our inclusion criteria (total exclusions: 2921). The remaining nine articles (published between January 1996 and December 2021) met the inclusion criteria.