Indolent Systemic Mastocytosis Presenting with Consecutive Vertebral Fragility Fractures despite Normal Bone Mineral Density: A Case Report and Mechanistic Review
Abstract
Introduction: Indolent systemic mastocytosis (ISM) is a rare clonal mast-cell disorder that may present with skeletal involvement, driven by mast-cell mediator-induced osteoclast activation. Vertebral fragility fractures can occur even in the presence of normal bone mineral density (BMD), making early diagnosis challenging.
Case report: A 56-year-old woman with a prior history of cutaneous mastocytosis and persistently elevated serum tryptase presented with acute thoracolumbar pain after minimal trauma. Initial imaging revealed a T11 compression fracture with normal BMD on dual-energy X-ray absorptiometry. Kyphoplasty resulted in symptomatic improvement. Ten weeks later, she developed a second atraumatic L1 vertebral fracture. Given the atypical fracture pattern and mastocytosis history, she underwent L1 kyphoplasty with concurrent osseous biopsy. Histopathology showed mast-cell infiltrates with CD25 expression, and molecular testing identified KIT D816V mutation. Bone marrow biopsy confirmed multifocal mast-cell infiltration, establishing a diagnosis of ISM. The patient was treated with intravenous bisphosphonates and multidisciplinary follow-up. At the last follow-up, she demonstrated pain resolution and no new fractures.
Discussion: This case underscores that ISM may present solely with skeletal manifestations despite normal BMD. Mast-cell mediators, including tryptase, histamine, tumor necrosis factor-alpha, and interleukin-6 promote osteoclastogenesis and…
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