Hypophosphatasia in adolescents and adults:​ overview of diagnosis and treatment

Bianchi, M. L.; Bishop, N. J.; Guañabens, N.; Hofmann, C.; Jakob, F.; Roux, C.; Zillikens, M. C.

Affiliations

¹Laboratorio sperimentale di ricerche sul metabolismo osseo infantile, Centro Malattie Metaboliche Ossee, Istituto Auxologico Italiano IRCCS, Milan, Italy

²Department of Oncology and Metabolism, University of Sheffield, Sheffield Children’s NHS Foundation Trust, Sheffield, UK

³Servicio de Reumatología, Hospital Clínic, Universidad de Barcelona, IDIBAPS CIBERehd, Barcelona, Spain

⁴Children’s Hospital, University of Würzburg, Würzburg, Germany

⁵Orthopedic Centre for Musculoskeletal Research, University of Würzburg, Würzburg, Germany

⁶INSERM U1153 APHP Centre, Université de Paris, Department of Rheumatology, Paris, France

⁷Department of Internal Medicine, Endocrinology Section, Erasmus Medical Centre, Rotterdam, The Netherlands

Abstract and keywords

This article provides an overview of the current knowledge on hypophosphatasia—a rare genetic disease of very variable presentation and severity—with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).

Keywords: Alkaline phosphatase; Bone; Fractures; Hypomineralization; Hypophosphatasia; Teeth

Links

DOI: 10.1007/s00198-020-05345-9

PubMed: 32162014

WoS: 000548231300004

History

Received: 2019-07-22

Accepted: 2020-02-11

Online: 2020-03-11

Cited Works (7)

Year	Entry
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2016	Whyte MP. Hypophosphatasia: aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. April 2016;12(4):233-246.
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Cited By (2)

Year	Entry
2021	Desborough R, Nicklin P, Gossiel F, Balasubramanian M, Walsh JS, Petryk A, Teynor M, Eastell R. Clinical and biochemical characteristics of adults with hypophosphatasia attending a metabolic bone clinic. Bone. March 2021;144:115795.
2022	Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O. Early-onset osteoporosis: rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen. J Bone Miner Res. September 2022;37(9):1623-1641.