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Fibrous Dysplasia

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Metabolic Bone Diseases

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Abstract

Fibrous dysplasia (FD) is an uncommon genetic condition where fibrous tissue replaces medullary bone and bone marrow. Although it usually occurs in isolation, it can be part of the McCune Albright syndrome. The clinical spectrum varies widely, ranging from asymptomatic radiographic findings to disabling disease with pain, fractures, and bone deformities. Thus, although FD is typically diagnosed during childhood or early adolescence, it may remain unrecognized until adulthood. Early detection and evaluation for the presence of associated endocrinopathies and other organ involvement are essential. Phosphaturia can occur as a result of excess FGF23 production and can lead to additional hypophosphatemic skeletal changes. Treatment remains largely symptomatic to include pain management and physical therapy, with surgical intervention reserved for impending fracture or nerve compression. To date, no disease-modifying agents have been clearly identified, although intravenous bisphosphonates perform better than oral agents, and recently denosumab is being investigated as a therapeutic agent.

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Abbreviations

BAP:

Bone-specific alkaline phosphatase

cAMP:

Cyclic adenosine monophosphate

CT:

Computed tomography

CTX:

Collagen type-1 cross-linked C-telopeptide

FD:

Fibrous dysplasia

FGF23:

Fibroblast growth factor 23

GNAS:

Guanine nucleotide-binding protein, alpha stimulating

IGF-1:

Insulin-like growth factor-1

IL-6:

Interleukin-6

MAS:

McCune-Albright syndrome

MRI:

Magnetic resonance imaging

NTX:

Collagen type-1 cross-linked N-telopeptide

P1NP:

N-terminal propeptides of procollagen type-1

RANKL:

Receptor activator of nuclear factor Kappa-B ligand

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Authors and Affiliations

  1. Department of Medicine and Division of Endocrinology, Diabetes, Metabolism and Nutrition, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA

    Anupam Kotwal, Jad G. Sfeir & Daniel L. Hurley

Authors
  1. Anupam Kotwal
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  2. Jad G. Sfeir
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  3. Daniel L. Hurley
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Correspondence to Daniel L. Hurley .

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Editors and Affiliations

  1. Division of Endocrinology and Metabolism, Loyola University Medical Center, Maywood, IL, USA

    Pauline M. Camacho

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Kotwal, A., Sfeir, J.G., Hurley, D.L. (2019). Fibrous Dysplasia. In: Camacho, P. (eds) Metabolic Bone Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-03694-2_13

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  • DOI: https://doi.org/10.1007/978-3-030-03694-2_13

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