A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels
Background/Objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP. Case Report: A 36-year-old woman presented with progressive fatigue, weakness, and joint...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-03-01
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| Series: | AACE Clinical Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060523001621 |
| _version_ | 1827314681499353088 |
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| author | Antara Dattagupta, MD, MEng Steven Petak, MD, JD |
| author_facet | Antara Dattagupta, MD, MEng Steven Petak, MD, JD |
| author_sort | Antara Dattagupta, MD, MEng |
| collection | DOAJ |
| description | Background/Objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP. Case Report: A 36-year-old woman presented with progressive fatigue, weakness, and joint pain. She had been evaluated in the past for genetic disorders due to these symptoms and was found to have a history of several total ALP levels within normal limits but elevated vitamin B6 levels. She also reported having loose teeth and “gray gums” during her childhood. Bone-specific ALP was tested for suspicion of HPP and returned at 4.4 μ/L (reference range, 5.3-19.5 μg/L), which prompted genetic testing. Genetic testing confirmed a positive pathogenetic variant of the ALPL gene, the c.542C>T (p.Ser181Leu) variant. She started asfotase alfa treatment to improve her symptoms. Discussion: HPP was diagnosed based on clinical suspicion supported by laboratory findings, which can cause it to be underdiagnosed or misdiagnosed. Current literature reports that a low total ALP level is the main biochemical marker of HPP and the only level needed to diagnose the disease. However, bone-specific ALP, a common marker used for bone turnover, has not been required to be tested. Conclusion: This case highlights a patient with normal total ALP, but low bone-specific ALP diagnosed with HPP confirmed by genetic testing. This case warrants future investigation into the diagnostic approach to HPP and the diagnostic utility between ALP and bone-specific ALP. |
| first_indexed | 2024-04-24T22:41:29Z |
| format | Article |
| id | doaj.art-66d450ed4b754e7e88c9567314e0d0fb |
| institution | Directory Open Access Journal |
| issn | 2376-0605 |
| language | English |
| last_indexed | 2024-04-24T22:41:29Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | AACE Clinical Case Reports |
| spelling | doaj.art-66d450ed4b754e7e88c9567314e0d0fb2024-03-19T04:18:58ZengElsevierAACE Clinical Case Reports2376-06052024-03-011023840A Case of Hypophosphatasia With Normal Alkaline Phosphatase LevelsAntara Dattagupta, MD, MEng0Steven Petak, MD, JD1Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, Texas; Department of Medicine, Washington University School of Medicine, St. Louis, MissouriDivision of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, Texas; Address correspondence to Dr Steven Petak, Houston Methodist Hospital, 6550 Fannin Street, Smith Tower Suite 1001, Houston, TX 77030.Background/Objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP. Case Report: A 36-year-old woman presented with progressive fatigue, weakness, and joint pain. She had been evaluated in the past for genetic disorders due to these symptoms and was found to have a history of several total ALP levels within normal limits but elevated vitamin B6 levels. She also reported having loose teeth and “gray gums” during her childhood. Bone-specific ALP was tested for suspicion of HPP and returned at 4.4 μ/L (reference range, 5.3-19.5 μg/L), which prompted genetic testing. Genetic testing confirmed a positive pathogenetic variant of the ALPL gene, the c.542C>T (p.Ser181Leu) variant. She started asfotase alfa treatment to improve her symptoms. Discussion: HPP was diagnosed based on clinical suspicion supported by laboratory findings, which can cause it to be underdiagnosed or misdiagnosed. Current literature reports that a low total ALP level is the main biochemical marker of HPP and the only level needed to diagnose the disease. However, bone-specific ALP, a common marker used for bone turnover, has not been required to be tested. Conclusion: This case highlights a patient with normal total ALP, but low bone-specific ALP diagnosed with HPP confirmed by genetic testing. This case warrants future investigation into the diagnostic approach to HPP and the diagnostic utility between ALP and bone-specific ALP.http://www.sciencedirect.com/science/article/pii/S2376060523001621hypophosphatasiaALPLTNSALPbone-specific ALP |
| spellingShingle | Antara Dattagupta, MD, MEng Steven Petak, MD, JD A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels AACE Clinical Case Reports hypophosphatasia ALPL TNSALP bone-specific ALP |
| title | A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels |
| title_full | A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels |
| title_fullStr | A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels |
| title_full_unstemmed | A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels |
| title_short | A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels |
| title_sort | case of hypophosphatasia with normal alkaline phosphatase levels |
| topic | hypophosphatasia ALPL TNSALP bone-specific ALP |
| url | http://www.sciencedirect.com/science/article/pii/S2376060523001621 |
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