Mastocytosis pp 123-140 | Cite as

Systemic Mastocytosis and Bone-Related Events

  • Kamyar Asadipooya
  • Loren Wissner GreeneEmail author


Mastocytosis is a rare condition described by clonal, neoplastic proliferation of abnormal mast cells. Infiltration of abnormal mast cells into the organ systems other than skin results in systemic mastocytosis (SM), which is frequently associated with a D816V (KIT) mutation. Bone involvement is a common manifestation of adult SM. It is often complicated by fragility fracture, especially vertebral fracture. However, SM-related bone manifestations range from asymptomatic infiltration to bone pain, bone loss including osteopenia and osteoporosis, and focal osteolytic lesions to osteosclerosis. The mechanisms of bone involvement in SM are due to not only the neoplastic infiltration of mast cells themselves but also the secretion of mediators and inflammatory markers that technically impair bone structure and cell function. Prevention of disease-related bone complications, especially fragility fracture, should be a concern for patients with SM. However, different treatments have been proposed for SM-related bone consequences, including antiresorptive medications (bisphosphonate and denosumab), ketotifen, cromolyn, antihistamines, sodium fluoride, interferon, and chemotherapeutic agents; controlling the underlying mastocytosis disease might be a better future approach.


Mastocytosis Osteoporosis Tryptase KIT mutation 



Bone mineral density


Dickkopf-related protein 1


Dual-energy X-ray absorptiometry


Femoral neck






Indolent systemic mastocytosis


Lumbar spine






Propeptide of type I C-terminal procollagen


Propeptide of type I N-terminal procollagen


Platelet-activating factor


Prostaglandin D2


Parathyroid hormone


Parathyroid hormone-related peptide


Receptor activator of nuclear factor-κB (NF-κB)


Receptor activator of nuclear factor-κB (NF-κB) ligand


Stem cell factor


Systemic mastocytosis


Transforming growth factor-beta


Total hip


Tumor necrosis factor


Vascular endothelial growth factor


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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Division of Endocrinology and Molecular Medicine, Department of Internal MedicineUniversity of KentuckyLexingtonUSA
  2. 2.Department of Medicine (Endocrinology) and ObGyn, Osteoporosis and Metabolic Bone Disease, Endocrine DivisionNYU School of MedicineNew YorkUSA

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