Abstract
Background: Hypophosphatasia (HPP) is a rare genetic condition caused by a mutation in the ALPL gene. It is often misdiagnosed due to its wide range of clinical presentations and late onset of symptoms. Case Presentation: We present a case of a 48-year-old male with seemingly subclinical hypophosphatasia who initially presented with slight tooth pain. Upon further examination, chronic low alkaline phosphatase levels were identified, leading to genetic testing that confirmed HPP. The patient's elevated vitamin B6 levels and the identification of a heterozygous exon 2 deletion mutation in the ALPL gene were key diagnostic findings. Conclusion: This case highlights the spectrum of symptoms that patients with HPP can present and emphasizes the importance of considering HPP as a differential diagnosis for patients with low alkaline phosphatase levels. Recognizing this condition is crucial, as standard treatments for hypocalcemia, such as bisphosphonates, are contraindicated in HPP patients. Continued research and publication of mild and subclinical forms of HPP are vital to improve the understanding and management of this disease.
Published Version
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