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Adult hypophosphatasia treated with reduced frequency of teriparatide dosing
We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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International Society of Musculoskeletal and Neuronal Interactions
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8672398/ https://www.ncbi.nlm.nih.gov/pubmed/34854399 |
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author | Polyzos, Stergios A. Tournis, Symeon Goulas, Antonis Kollia, Panagoula Whyte, Michael P. |
author_facet | Polyzos, Stergios A. Tournis, Symeon Goulas, Antonis Kollia, Panagoula Whyte, Michael P. |
author_sort | Polyzos, Stergios A. |
collection | PubMed |
description | We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within ALPL, the gene that encodes the homodimeric “tissue-nonspecific” isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.455 G>A→R135H). Characteristic painful periarticular calcification removed at a shoulder did not recur. However, access to medical treatment with asfotase alfa (AA) was denied. After he sustained a low-energy metatarsal fracture, we administered TPTD subcutaneously “off-label” at 20 µg/d. An elbow fracture occurred two months later. Five months afterwards, due to his limited number of approved TPTD doses, TPTD treatment was extended using alternate-day dosing. Although his serum ALP activity did not increase (33-48 U/l; reference range 40-120) with 4 years of TPTD treatment, his BMD improved 15% in the lumbar spine and 6% in the femoral neck with no further fractures. Our experience represents success overcoming two prescription deadlocks; AA was denied for adult HPP, and TPTD was not to be administered daily for more than two years. |
format | Online Article Text |
id | pubmed-8672398 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | International Society of Musculoskeletal and Neuronal Interactions |
record_format | MEDLINE/PubMed |
spelling | pubmed-86723982021-12-20 Adult hypophosphatasia treated with reduced frequency of teriparatide dosing Polyzos, Stergios A. Tournis, Symeon Goulas, Antonis Kollia, Panagoula Whyte, Michael P. J Musculoskelet Neuronal Interact Case Report We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within ALPL, the gene that encodes the homodimeric “tissue-nonspecific” isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.455 G>A→R135H). Characteristic painful periarticular calcification removed at a shoulder did not recur. However, access to medical treatment with asfotase alfa (AA) was denied. After he sustained a low-energy metatarsal fracture, we administered TPTD subcutaneously “off-label” at 20 µg/d. An elbow fracture occurred two months later. Five months afterwards, due to his limited number of approved TPTD doses, TPTD treatment was extended using alternate-day dosing. Although his serum ALP activity did not increase (33-48 U/l; reference range 40-120) with 4 years of TPTD treatment, his BMD improved 15% in the lumbar spine and 6% in the femoral neck with no further fractures. Our experience represents success overcoming two prescription deadlocks; AA was denied for adult HPP, and TPTD was not to be administered daily for more than two years. International Society of Musculoskeletal and Neuronal Interactions 2021 /pmc/articles/PMC8672398/ /pubmed/34854399 Text en Copyright: © Journal of Musculoskeletal and Neuronal Interactions https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 4.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Polyzos, Stergios A. Tournis, Symeon Goulas, Antonis Kollia, Panagoula Whyte, Michael P. Adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
title | Adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
title_full | Adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
title_fullStr | Adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
title_full_unstemmed | Adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
title_short | Adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
title_sort | adult hypophosphatasia treated with reduced frequency of teriparatide dosing |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8672398/ https://www.ncbi.nlm.nih.gov/pubmed/34854399 |
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