ArticleWorld journal of clinical cases2025
Hypophosphatasia: A case report.
Article in World journal of clinical cases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Review
- When the diagnosis misses the mark: The psychiatric cost of misdiagnosing hypophosphatasia as fibromyalgia.World journal of clinical cases · 2025Article
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Authors and funding
4 authors.
Funding
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Abstract
backgroundHypophosphatasia (HPP) is a rare metabolic disorder caused by low tissue-nonspecific alkaline phosphatase (ALP) activity, presenting symptoms from bone demineralization to tooth loss. It affects multiple systems and is diagnosed based on clinical symptoms, radiological findings, and lab tests. This case report emphasizes considering HPP in patients with unexplained bone pain and low ALP levels, especially with underlying osteopenia or osteoporosis. It highlights the importance of genetic testing and counseling for early diagnosis and treatment, aiming to raise clinician awareness. CASE SUMMARY: We present a case of a 65-year-old female patient who was referred to our endocrinology clinic for complaints of generalized bone pain and hypothyroidism. Initial evaluation revealed osteopenia, managed with calcium and vitamin D supplementation. Persistently low ALP levels and elevated vitamin B6 levels led to the diagnosis of HPP, confirmed by genetic testing identifying a pathogenic
conclusionRecognizing HPP is crucial, as early diagnosis and treatment can significantly improve patient outcomes and prevent complications.
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