Hipofosfatazja dorosłych. Trudności diagnostyczne i potencjalne błędy terapeutyczne na podstawie opisu przypadku

Przemysław Borowy; Alicja Kamińska; Jakub Smyk; Patrycja Major; Katarzyna Gołojuch; Julia Płonczyńska; Olga Wcisłek; Mateusz Heba; Bogdan Batko

doi:10.48269/2451-0858-pis-2024-2-015

Published: 2024-12-18

Vol. 24 No. 2 (2024)

Adult hypophosphatasia. Diagnostic difficulties and potential therapeutic errors based on a case report

Przemysław Borowy

, Alicja Kamińska

, Jakub Smyk

, Patrycja Major

, Katarzyna Gołojuch

, Julia Płonczyńska

, Olga Wcisłek

, Mateusz Heba

, Bogdan Batko

Section: Health Sciences

https://doi.org/10.48269/2451-0858-pis-2024-2-015

Abstract

Hypophosphatasia (HPP) is a rare, genetically inherited metabolic disorder caused by a mutation in the tissue-nonspecific alkaline phosphatase (TNALP) gene leading to loss of its function. The clinical presentation is highly heterogeneous, with mild forms often being asymptomatic for long periods. In adults, involvement of bone tissue leads to demineralization, which may result in a misdiagnosis of osteoporosis. In a 69-year-old patient, osteoporosis was initially diagnosed on the basis of abnormal densitometry results and antiresorptive therapy was initiated. Due to bone and joint pain, the patient was admitted to an osteoporosis outpatient clinic, where HPP was diagnosed due to low alkaline phosphatase (ALP) levels, TNALP gene mutation, kidney stones, and early tooth loss. Denosumab therapy was discontinued, while vitamin D supplementation was maintained. This paper emphasizes the necessity of a detailed differential diagnosis, especially in patients with an “osteoporotic” phenotype of the disease, in order to avoid iatrogenic use of antiresorptive medications.

Keywords:

hypophosphatasia , alkaline phosphatase , osteoporosis , bisphosphonates , denosumab

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Borowy, Przemysław, et al. “Adult Hypophosphatasia. Diagnostic Difficulties and Potential Therapeutic Errors Based on a Case Report”. Państwo I Społeczeństwo State and Society, vol. 24, no. 2, Dec. 2024, pp. 205-11, doi:10.48269/2451-0858-pis-2024-2-015.

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Przemysław Borowy, Mateusz Heba, Julia Płonczyńska, Olga Wcisłek, Bogdan Batko, Alicja Kamińska, Patrycja Major, Jakub Smyk, Katarzyna Gołojuch, Treating pregnancy and lactation-associated osteoporosis with denosumab , Państwo i Społeczeństwo / State and Society: Vol. 24 No. 2 (2024)

References

Whyte MP. Hypophosphatasia – aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016; 12(4): 233–246, https://doi.org/10.1038/nrendo.2016.14.
Google Scholar

Durrough C, Colazo JM, Simmons J, Hu J-R, Hudson M, Black M, de Riesthal M, Dahir K. Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia. Bone. 2021; 142: 115695, https://doi.org/10.1016/j.bone.2020.115695.
Google Scholar

Salles JP. Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy. Clin Biochem Rev. 2020; 41(1): 13–27, https://doi.org/10.33176/AACB-19-00031.
Google Scholar

Tsiantouli E, Biver E, Chevalley T, Petrovic R, Hannouche D, Ferrari S. Prevalence of Low Serum Alkaline Phosphatase and Hypophosphatasia in Adult Patients with Atypical Femur Fractures. Calcif Tissue Int. 2022; 110(6): 703–711, https://doi.org/10.1007/s00223-022-00949-1.
Google Scholar

Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M’Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024; 35(3): 431–438, https://doi.org/10.1007/s00198-023-06844-1.
Google Scholar

Olde Loohuis LM, Albersen M, de Jong S, Wu T, Luykx JJ, Jans JJM, Verhoeven-Duif NM, Ophoff RA. The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma. Genes. 2019; 10(1): 8, https://doi.org/10.3390/genes10010008.
Google Scholar

Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M. Hypophosphatasia: A Unique Disorder of Bone Mineralization. Int J Mol Sci. 2021; 22(9): 4303, https://doi.org/10.3390/ijms22094303.
Google Scholar

Rauf MA, Kotecha J, Moss K. Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology. Osteoporos Int. 2023; 34(9): 1647–1652, https://doi.org/10.1007/s00198-023-06749-z.
Google Scholar

Tournis S, Yavropoulou MP, Polyzos SA, Doulgeraki A. Hypophosphatasia. J Clin Med. 2021; 10(23): 5676, https://doi.org/10.3390/jcm10235676.
Google Scholar

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO) (REGHYPO). National Library of Medicine – ClinicalTrials.gov; https://clinicaltrials.gov/study/NCT05596539?cond=hypophosphatasia&rank=2#collaborators-and-investigators [dostęp: 24.03.2024].
Google Scholar

Wiedemann P, Schmidt FN, Amling M, Yorgan TA, Barvencik F. Zinc and vitamin D deficiency and supplementation in hypophosphatasia patients – A retrospective study. Bone. 2023; 175: 116849, https://doi.org/10.1016/j.bone.2023.116849.
Google Scholar

Khanjee N, Maalouf NM. Romosozumab-aqqg in the Treatment of Osteoporosis in a Patient With Hypophosphatasia. J Endocr Soc. 2022; 6(12): bvac159, https://doi.org/10.1210/jendso/bvac159.
Google Scholar

Vol. 24 No. 2 (2024)
Published: 2024-12-18

eISSN: 2451-0858

10.31749/2451-0858-SaS

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AFM Publishing House of the Andrzej Frycz Modrzewski Krakow University

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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Adult hypophosphatasia. Diagnostic difficulties and potential therapeutic errors based on a case report

Abstract

Keywords:

Most read articles by the same author(s)

Przemysław Borowy

Alicja Kamińska

Jakub Smyk

Patrycja Major

Katarzyna Gołojuch

Julia Płonczyńska

Olga Wcisłek

Mateusz Heba

Bogdan Batko

MSHE Poland