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Mastocytosis pp 123-140 | Cite as

Systemic Mastocytosis and Bone-Related Events

  • Kamyar Asadipooya
  • Loren Wissner GreeneEmail author
Chapter

Abstract

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.

Keywords

Mastocytosis Osteoporosis Tryptase KIT mutation 

Abbreviations

BMD

Bone mineral density

DKK1

Dickkopf-related protein 1

DXA

Dual-energy X-ray absorptiometry

FN

Femoral neck

IL

Interleukin

IL

Interleukins

ISM

Indolent systemic mastocytosis

LS

Lumbar spine

LT

Leukotrienes

OPG

Osteoprotegerin

P1CP

Propeptide of type I C-terminal procollagen

P1NP

Propeptide of type I N-terminal procollagen

PAF

Platelet-activating factor

PGD2

Prostaglandin D2

PTH

Parathyroid hormone

PTH-rP

Parathyroid hormone-related peptide

RANK

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

RANKL

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

SCF

Stem cell factor

SM

Systemic mastocytosis

TGF-β

Transforming growth factor-beta

TH

Total hip

TNF

Tumor necrosis factor

VEGF

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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