Advertisement

Hypophosphatasia

  • Rod Marianne Arceo-MendozaEmail author
  • Anne Margarette Bacal
  • Pauline M. Camacho
Chapter

Abstract

Hypophosphatasia is an inherited metabolic bone disease from deficient activity of tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). A condition which was first described in 1948 by Dr. John C Rathbun, hypophosphatasia affects approximately 500–600 known individuals in the United States. It clinically presents in different forms of severity ranging from nonspecific symptoms in adults to very severe perinatal form including death in utero. However, a common feature of hypophosphatasia across all age groups is reduced serum alkaline phosphatase leading to defective bone mineralization. Management involves medical treatment, surgical repair, and enzyme replacement therapy.

Keywords

Hypophosphatasia Alkaline phosphatase Bone Bone mineralization Metabolic bone disease Inherited bone disease 

References

  1. 1.
    Whyte MP. Hypophosphatasia – aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233–46.CrossRefGoogle Scholar
  2. 2.
    Mornet E. Hypophosphatasia. Metabolism. 2018;82:142–55.CrossRefGoogle Scholar
  3. 3.
    Shapiro JR, Lewiecki EM. Hypophosphatasia in adults: clinical assessment and treatment considerations. J Bone Miner Res. 2017;32(10):1977–80.CrossRefGoogle Scholar
  4. 4.
    Millan JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398–416.CrossRefGoogle Scholar
  5. 5.
    Bianchi ML. Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 2015;26(12):2743–57.CrossRefGoogle Scholar
  6. 6.
    Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015;75:229–39.CrossRefGoogle Scholar
  7. 7.
    Kishnani PS, Rush ET, Arundel P, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017;122(1–2):4–17.CrossRefGoogle Scholar
  8. 8.
    Mori M, Dearmey SL, Weber TJ, Kishnani PS. Case series: odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth. Bone Rep. 2016;5:228–32.CrossRefGoogle Scholar
  9. 9.
    Schmidt T, Mussawy H, Rolvien T, et al. Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. Osteoporos Int. 2017;28(9):2653–62.CrossRefGoogle Scholar
  10. 10.
    Whyte MP, Mumm S, Deal C. Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab. 2007;92(4):1203–8.CrossRefGoogle Scholar
  11. 11.
    Camacho PM, Mazhari AM, Wilczynski C, Kadanoff R, Mumm S, Whyte MP. Adult hypophosphatasia treated with teriparatide: report of 2 patients and review of the literature. Endocr Pract. 2016;22(8):941–50.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Rod Marianne Arceo-Mendoza
    • 1
    Email author
  • Anne Margarette Bacal
    • 1
  • Pauline M. Camacho
    • 1
  1. 1.Division of Endocrinology and MetabolismLoyola University Medical Center, Loyola University Osteoporosis and Metabolic Bone Disease CenterMaywoodUSA

Personalised recommendations