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Metabolic Bone Diseases Other than Osteoporosis

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Endocrinology and Diabetes

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Abstract

Osteogenesis imperfecta is a hereditary disorder of the connective tissue caused by qualitative or quantitative abnormalities involving type I collagen, with varied phenotypic presentations. The diagnosis should be considered in any child with recurrent fractures from minimal trauma and the focus of treatment should be multidisciplinary in order to oversee early care and minimize complications. Osteomalacia is often neglected especially in its early stages because of the nonspecific nature of symptoms such as vague bone pain and muscle weakness. Symptoms include chronic bone and muscle pain, weakness, fatigue, difficulty in walking, and a high risk of fractures due to bone fragility. The most characteristic laboratory findings are a lower serum calcium level, a decrease in urinary calcium levels, hypophosphatemia, and increased levels of alkaline phosphatase. Vitamin D is effective in the treatment of nutritional osteomalacia, or for malabsorption. Tumor-induced osteomalacia is treated with a phosphate supplement, along with vitamin D, until the tumor has been identified and excised. Paget’s disease of bone is a chronic skeletal disease characterized by increased osteoclastic activity that leads to increased bone reabsorption. It is usually asymptomatic and discovered incidentally. The main clinical manifestations are bone pain, fractures, skeletal deformities, and secondary arthritis. The diagnosis can be made when high serum alkaline phosphatase activity is found, or by routine X-ray examination. The objective of treatment is to relieve pain, restore normal bone metabolism, decrease bone vascularization, and prevent future complications.

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Authors and Affiliations

  1. Department of Endocrinology, Agamenon Magalhaes Hospital, Guedes Pereira Street, 180 Apt 1203, Recife, Pernambuco, 52070-020, Brazil

    Manoel Aderson Soares Filho M.D.

  2. Department of Endocrinology, Agamenon Magalhaes Hospital, Rua Antonio Valdevino da Costa 280/BL9/Apt 304, Recife, Pernambuco, 50640-040, Brazil

    Vanessa Leão M.D.

  3. Division of Endocrinology and Diabetes, Agamenon Magalhães Hospital, University of Pernambuco Medical School, Av Rui Barbosa, 1435, Recife, Pernambuco, 52050-450, Brazil

    Francisco Bandeira M.D., Ph.D., F.A.C.E.

Authors
  1. Manoel Aderson Soares Filho M.D.
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  2. Vanessa Leão M.D.
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  3. Francisco Bandeira M.D., Ph.D., F.A.C.E.
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Corresponding author

Correspondence to Manoel Aderson Soares Filho M.D. .

Editor information

Editors and Affiliations

  1. Professor Associado e Livre-Docente, Disciplina de Endocrinologia da Faculdade de Ciências Medicas da Universidade de Pernambuco, Chefe da Divisão de Endocrinologia e Diabetes do Hospital Agamenon, Magalhães-MS/UPE, Recife, Brazil

    Francisco Bandeira

  2. American Thyroid Association Past President, American Association of Clinical Endocrinologists, Professor of Medicine, Mayo Clinic College of Medicine President-Elect, Rochester, Minnesota, USA

    Hossein Gharib

  3. Federal Foundation and School of Medical Sciences, Porto Alegre, Brazil

    Airton Golbert

  4. Department of Medicine, University of Pernambuco School of Medicine, Recife, Brazil

    Luiz Griz

  5. Department of Medicine, University of Maranhao School of Medicine, Sao Luis, Brazil

    Manuel Faria

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Filho, M.A.S., Leão, V., Bandeira, F. (2014). Metabolic Bone Diseases Other than Osteoporosis. In: Bandeira, F., Gharib, H., Golbert, A., Griz, L., Faria, M. (eds) Endocrinology and Diabetes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8684-8_26

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  • DOI: https://doi.org/10.1007/978-1-4614-8684-8_26

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