AI Article Synopsis
- - Bisphosphonates are commonly used to treat osteoporosis but are frequently not tolerated or discontinued for various reasons.
- - Hypophosphatasia (HPP) is a genetic disorder caused by low enzyme activity, leading to non-specific symptoms in adults, which can delay diagnosis for years.
- - A 71-year-old woman with recurring skeletal pain and intolerance to bisphosphonates was diagnosed with HPP, highlighting the importance of recognizing low serum alkaline phosphatase and considering genetic testing for accurate diagnosis.
Article Abstract
Bisphosphonates, first-line medications for osteoporosis, are often not tolerated or discontinued for multiple reasons. Hypophosphatasia (HPP) is a genetic deficiency with the enzyme activity of tissue-nonspecific alkaline phosphatase (TNSALP). The symptoms of adult HPP are often non-specific, and the diagnosis may be delayed for years. Low serum alkaline phosphatase, a hallmark feature of HPP, is often overlooked. Genetic testing is recommended to confirm diagnosis, and treatment with asfotase alfa, a recombinant alkaline phosphatase, is available for patients with HPP. We report a case of HPP in a 71-year-old female with recurrent skeletal pain and bisphosphonate intolerance who ultimately was diagnosed with HPP.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9009988 | PMC |
| http://dx.doi.org/10.7759/cureus.23163 | DOI Listing |
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