RhAPPcast: Born with Burden: Understanding the Pediatric Presentation of HPP
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RhAPPcast: Born with Burden: Understanding the Pediatric Presentation of HPP
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In this episode of RhAPPcast, host Amanda Mixon, President of RhAPP, is joined by pediatric rheumatology specialist and RhAPP board member Brandon Ko to spotlight hypophosphatasia (HPP) in children—an underrecognized inherited metabolic bone disorder that is frequently missed in clinical practice. The conversation reviews perinatal, infantile, and childhood-onset HPP, highlights subtle early warning signs like failure to thrive, delayed milestones, craniosynostosis, bone pain, recurrent fractures, and premature loss of primary teeth with intact roots, and explains why persistently low alkaline phosphatase (ALP) is a key diagnostic red flag. Designed for rheumatology APPs and primary care clinicians, this episode offers practical steps to improve recognition, differentiate HPP from conditions like JIA and pain amplification syndromes, and support earlier evaluation and referral for appropriate testing.
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