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Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment

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Abstract

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).

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Authors and Affiliations

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

    M. L. Bianchi

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

    N. J. Bishop

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

    N. Guañabens

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

    C. Hofmann

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

    F. Jakob

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

    C. Roux

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

    M. C. Zillikens

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  1. M. L. Bianchi
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  2. N. J. Bishop
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  4. C. Hofmann
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On behalf of the Rare Bone Disease Action Group of the European Calcified Tissue Society

Contributions

N. Bishop member of ERN BOND (European Reference Network on Rare Bone Diseases). Department of Oncology and Metabolism, University of Sheffield; Sheffield Children's NHS Foundation Trust, Sheffield, UK. C. Roux member of ERN BOND. INSERM U1153 APHP Centre, Université de Paris, Department of Rheumatology, Paris, France. M. C. Zillikens member of ERN BOND. Department of Internal Medicine, Endocrinology Section, Erasmus Medical Centre, Rotterdam, The Netherlands.

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Correspondence to M. L. Bianchi.

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Conflict of interest

Dr. M. L. Bianchi has received honoraria and expense reimbursements from Kyowa-Kirin and Alexion for participation in workshops/advisory boards.

Dr. N. J. Bishop is an investigator on the Alexion-funded HPP Registry, and has received honoraria from Alexion for speaking at meetings.

Dr. N. Guanyabens has received fees for lectures and participation in advisory boards from Amgen, Eli Lilly, Alexion, and UCB.

Dr. C. Hofmann has participated as investigator in Alexion sponsored clinical studies, and has received consultant/research grants from Alexion Pharma.

Dr F. Jakob has received honoraria for lectures from Alexion, Amgen, UCB, Lilly, Gedeon Richter, Kyowa Kirin. His group has received support for clinical studies from Alexion and Novartis via contracts with Wuerzburg University.

Dr. C. Roux has received research grants from Alexion, Regeneron, Kyowa Kirin, and honoraria from Alexion, Amgen, UCB.

Dr. M. C. Zillikens has in the past received fee for lectures and/or advice from Alexion, Amgen, Eli Lily, Kyowa Kirin, Shire and UCB.

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Bianchi, M.L., Bishop, N.J., Guañabens, N. et al. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int 31, 1445–1460 (2020). https://doi.org/10.1007/s00198-020-05345-9

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