Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia
Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations a...
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| Format: | Article |
| Language: | English |
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Elsevier
2016-06-01
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| Series: | Bone Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S235218721530022X |
| _version_ | 1819070999152295936 |
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| author | Neil A. Braunstein |
| author_facet | Neil A. Braunstein |
| author_sort | Neil A. Braunstein |
| collection | DOAJ |
| description | Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations across all ages. The diagnosis is easily missed in adults, who frequently present with nonspecific clinical manifestations such as fractures, osteomalacia, and pain. Here, the pathway to diagnosis and disease course is described in an adult patient presenting with pain. Low serum alkaline phosphatase activity went unnoticed for 2 years until osteomalacia was suspected, during which time he experienced multiple fractures and progressing pain. Currently, accumulated morbidity has rendered the patient unable to work, and treatment is focused on pain management. This case highlights the importance of low alkaline phosphatase in the differential diagnosis of patients with musculoskeletal pain. |
| first_indexed | 2024-12-21T17:14:51Z |
| format | Article |
| id | doaj.art-a0525622016348d3ad36172973e35ba8 |
| institution | Directory Open Access Journal |
| issn | 2352-1872 |
| language | English |
| last_indexed | 2024-12-21T17:14:51Z |
| publishDate | 2016-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Bone Reports |
| spelling | doaj.art-a0525622016348d3ad36172973e35ba82022-12-21T18:56:20ZengElsevierBone Reports2352-18722016-06-014C1410.1016/j.bonr.2015.10.005Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasiaNeil A. BraunsteinHypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations across all ages. The diagnosis is easily missed in adults, who frequently present with nonspecific clinical manifestations such as fractures, osteomalacia, and pain. Here, the pathway to diagnosis and disease course is described in an adult patient presenting with pain. Low serum alkaline phosphatase activity went unnoticed for 2 years until osteomalacia was suspected, during which time he experienced multiple fractures and progressing pain. Currently, accumulated morbidity has rendered the patient unable to work, and treatment is focused on pain management. This case highlights the importance of low alkaline phosphatase in the differential diagnosis of patients with musculoskeletal pain.http://www.sciencedirect.com/science/article/pii/S235218721530022XAlkaline phosphataseCostochondritisFracturesHypophosphatasiaPain |
| spellingShingle | Neil A. Braunstein Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia Bone Reports Alkaline phosphatase Costochondritis Fractures Hypophosphatasia Pain |
| title | Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia |
| title_full | Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia |
| title_fullStr | Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia |
| title_full_unstemmed | Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia |
| title_short | Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia |
| title_sort | multiple fractures pain and severe disability in a patient with adult onset hypophosphatasia |
| topic | Alkaline phosphatase Costochondritis Fractures Hypophosphatasia Pain |
| url | http://www.sciencedirect.com/science/article/pii/S235218721530022X |
| work_keys_str_mv | AT neilabraunstein multiplefracturespainandseveredisabilityinapatientwithadultonsethypophosphatasia |