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Skin and bones: systemic mastocytosis and bone.
Mawson Wang1, Markus J Seibel1,2
1Department of Endocrinology and Metabolism, Concord Hospital, Sydney, Australia.
Endocrinology, Diabetes & Metabolism Case Reports
|May 11, 2023
Summary
Systemic mastocytosis can cause complex bone disease with both resorption and formation. This case shows increased bone density despite rising tryptase levels, suggesting advanced disease and mediator interplay.
Area of Science:
- Hematology
- Oncology
- Endocrinology
Background:
- Systemic mastocytosis (SM) is a neoplastic proliferation of mast cells, often associated with the KIT D816V mutation.
- SM commonly presents with cutaneous symptoms, but also unexplained osteoporosis, gastrointestinal, and constitutional symptoms.
- Osteoporosis is highly prevalent in SM due to mast cell mediators influencing bone remodeling, typically favoring resorption.
Purpose of the Study:
- To describe a case of systemic mastocytosis with complex bone disease.
- To investigate the interplay of mast cell mediators in bone remodeling in advanced SM.
- To highlight treatment challenges and disease complexities.
Main Methods:
- Case report of a 69-year-old female with systemic mastocytosis and osteoporosis.
- Diagnostic workup included physical examination, serum tryptase levels, skin and bone marrow biopsy, and CT imaging.
- Treatment involved denosumab (RANK-L inhibitor) and midostaurin (multikinase inhibitor).
Main Results:
- The patient presented with sclerotic bone lesions and osteoporosis.
- Denosumab treatment led to significant bone mineral density gain over 5 years.
- Despite midostaurin, serum tryptase levels increased, suggesting advanced disease and pro-osteoblastic activity.
Conclusions:
- Systemic mastocytosis-related bone disease is complex, involving both bone resorption and formation.
- Increased bone mineral density in advanced SM may result from mast cell-derived pro-osteoblastic mediators.
- This case underscores the intricate mediator balance in SM bone pathology and treatment considerations.
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