Global guidance for the recognition, diagnosis, and management of tumor-induced osteomalacia.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: Suzanne M. Jan de Beur has received grants from Ultragenyx, Mereo BioPharma (paid to a clinical trial site on which she was the principal investigator) personal fees from Ultragenyx, Amgen, Inozyme Pharma, fees from Ascendis Pharma for serving on advisory boards, and honoraria for lectures from Ultragenyx; she is on the scientific advisory board of the XLH Network Patient Advocacy Group and is past president of the American Society of Bone and Mineral Research. Salvatore Minisola has received royalties or licenses from Abiogen, Kyowa Kirin, Pfizer, and UCB, and payment or honoraria from Amgen, Bruno Farmaceutici, DiaSorin, Eli Lilly, Kyowa Kirin, Sandoz, and Takeda. Wei‐bo Xia has no conflicts of interest to declare. Bo Abrahamsen has received grants from Kyowa Kirin, Novartis, Pharmacosmos, and UCB, speaker fees from Amgen, Eli Lilly, and Pharmacosmos, and consulting fees from Kyowa Kirin and UCB. Jean‐Jacques Body has received consulting and/or speaker fees from Alexion, Amgen, Sandoz, and UCB. Maria Luisa Brandi has received honoraria from Amgen, Bruno Farmaceutici S.p.A., Calcilytix, Kyowa Kirin, and UCB, grants or speaker fees from Abiogen Pharma, Alexion, Amgen, Bruno Farmaceutici S.p.A., Echolight, Eli Lilly and Company, Kyowa Kirin, S.p.A., Theramex, and UCB, and consulting fees from Aboca, Alexion, Amolyt Pharma, Bruno Farmaceutici S.p.A., Calcilytix, Kyowa Kirin, and UCB. Roderick Clifton‐Bligh has received a personal payment from Kyowa Kirin for participation on an advisory board. Michael Collins is supported by the Division of Intramural Research, National Institute of Dental and Craniofacial Research, National Institutes of Health. Pablo Florenzano has received grants from Ultragenyx, consulting fees from Kyowa Kirin, and presentation fees from Ultragenyx. Pascal Houillier has received a grant from Takeda/Sire (payment to an association), consulting fees from Kyowa Kirin and Takeda/Shire, payment or honoraria from Takeda/Shire, and personal fees from Takeda/Shire for advisory boards. Yasuo Imanishi has received payment for lectures from Kyowa Kirin. Erik A. Imel has received grants from Kyowa Kirin and Ultragenyx (paid to his institution) and personal fees for participating in advisory boards and steering committees from Ultragenyx. Aliya A. Khan has received grants and honoraria from Alexion, Amgen, Ascendis, Chugai, Radius, Takeda, and Ultragenyx. M. Carola Zillikens has received grants from Kyowa Kirin and Health Holland (paid to institution), is a member of the steering committee of the European XLH Registry, the steering committee of ERN BOND, the Dutch Guideline for Osteoporosis and Fractures, and is a past board member of the European Calcified Tissue Society. Seiji Fukumoto has received personal fees from Kyowa Kirin and Chugai Pharmaceutical for lectures given and is the President of the Japanese Society for Bone and Mineral Research. 3. J Clin Endocrinol Metab. 2020 Apr 1;105(4):e1798-814. doi: 10.1210/clinem/dgaa064. Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia. Steele A(1), Gonzalez R(2), Garbalosa JC(3), Steigbigel K(3), Grgurich T(2), Parisi EJ(4), Feinn RS(1), Tommasini SM(5), Macica CM(1). Author information: (1)Department of Medical Sciences, Frank H. Netter MD School of Medicine at Quinnipiac University, North Haven, Connecticut. (2)Department of Diagnostic Imaging, School of Health Sciences at Quinnipiac University, North Haven, Connecticut. (3)Department of Physical Therapy, School of Health Sciences at Quinnipiac University, North Haven, Connecticut. (4)Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts. (5)Department of Orthopaedics, Yale University School of Medicine at Quinnipiac University, New Haven, Connecticut. Comment in J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa242. doi: 10.1210/clinem/dgaa242. CONTEXT: X-Linked hypophosphatemia (XLH) is a lifelong metabolic disease with musculoskeletal comorbidities that dominate the adult clinical presentation. OBJECTIVE: The adult XLH disorder has yet to be quantified on the basis of the physical and functional limitations that can affect activities of daily living. Our goal was to report the impact of the musculoskeletal manifestations on physical function. DESIGN AND SETTING: Musculoskeletal function was evaluated by validated questionnaires and in an interdisciplinary clinical space where participants underwent full-body radiologic imaging, goniometric range of motion (ROM) measurements, general performance tests, and kinematic gait analysis. PATIENTS: Nine adults younger than 60 years with a diagnosis of XLH and self-reported musculoskeletal disability, but able to independently ambulate, were selected to participate. Passive ROM and gait analysis were also performed on age-approximated controls to account for differences between individual laboratory instrumentation. RESULTS: Enthesophytes, degenerative arthritis, and osteophytes were found to be consistently bilateral and diffusely present at the spine and synovial joints across participants, with predominance at weight-bearing joints. Passive ROM in adults with XLH was decreased at the cervical spine, hip, knee, and ankle compared to controls. Gait analysis relative to controls revealed increased step width, markedly increased lateral trunk sway, and physical restriction at the hip, knees, and ankle joints that translated into limitations through the gait cycle. CONCLUSIONS: The functional impact of XLH musculoskeletal comorbidities supports the necessity for creating an interprofessional health-care team with the goal of establishing a longitudinal plan of care that considers the manifestations of XLH across the lifespan. © Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. DOI: 10.1210/clinem/dgaa064 PMCID: PMC8416779