Anne Leerling

“Sternocostoclavicular hyperostosis (SCCH) is a rare bone disorder characterized by a chronic osteitis of the anterior chest wall, causing local increase in bone turnover. SCCH is a poorly defined clinical entity, lacking pathophysiological understanding, biomarkers, and established therapeutic modalities. Patients experience an extremely high disease burden and decreased quality of life.

The LUMC Center for Bone Quality is the Dutch expertise center for SCCH with a large cohort has an elaborate research agenda. In terms of pathophysiology, SCCH seems to be characterized by autoinflammation. We explore the role of cytokine disbalance and abnormal T-lymphocyte levels, which we hypothesize to stimulate excess osteoclast differentiation, explaining the augmented bone resorption and consequent bone formation in SCCH.

Regarding diagnosis and disease monitoring, we explore the novel use of Na18F-PET/CT. This modality provides not only qualitative, but also quantitative assessment of the abnormal bone metabolism, which could facilitate treatment monitoring and decision-making. We also investigate the clinical use of systemic inflammatory based scores, which might more adequately reflect disease activity and treatment response than generic biomarkers.

In terms of therapy, we administer the bisphosphonate pamidronate off-label upon the rationale that the increased bone remodeling forms a therapeutic target in SCCH. Its promising efficacy is currently being assessed in a randomized, placebo-controlled study, the PAPS-study.

All in all, the goal of our research projects on SCCH are to gain pathophysiological understanding, to identify diagnostic modalities and biomarkers that track disease course, and to establish effective treatment options.”

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