Resources Video Library
  • Healthcare Professionals
  • Patients
    • img example
    We honor the life and work of Dr Deal whose expertise and contributions continue to make an impact on the HPP community.
    DR ERIC RUSH
    Dr Eric Rush, a clinical geneticist, talks about how genetic variability, diagnostic challenges, the clinical relevance of low ALP, and the multisystemic metabolic nature of HPP all affect patient care. He also emphasizes how important it is to keep learning about this rare disease over time.1,10,20,21
    DR RACHEL LOMBARDO AND DR DUSTY LUNA
    Dr Rachel Lombardo, a pediatric geneticist, and Dr Dusty Luna, an endocrinologist, share the day-to-day challenges of diagnosing HPP in children and adults.1  

    They cover topics such as noticing persistently low ALP, understanding family history, and not confusing HPP with other conditions. They also explain why early diagnosis matters, what genetic testing can and cannot show, and the importance of giving families clear answers.7,21-23
    img example

    Find helpful assets and organizations for you and your patients

    Downloads and Support

    See important diagnostic criteria

    Diagnosing HPP


    CONTACT A REP     Conti F, Ciullini L, Pugliese G. Clin Cases Miner Bone Metab. 2017;14(2):230-234. Yoshida H, Murakami T, Ogawa A, et al. Endocrinol Diabetes Metab Case Rep. 2025;2025(1):e240121. Bangura A, Wright L, Shuler T. Cureus. 2020;12(6):e8594. Szabo SM, Tomazos IC, Petryk A, et al. Orphanet J Rare Dis. 2019;14(1):85. Weber TJ, Sawyer EK, Moseley S, et al. Metabolism. 2016;65(10):1522-1530. Kawashima H, Sasame A, Ogaki Y, Nakayama T. JMA J. 2025;8(1):204-208. Mornet E, Taillandier A, Domingues C, et al. Eur J Hum Genet. 2021;29(2):289-299. Lefever E, Witters P, Gielen E, et al. J Clin Densitom. 2020;23(3):340-348. Injean P, Tan J, Lee S, Downey C. ACR Open Rheumatol. 2023;5(10):524-528. Villa-Suárez JM, García-Fontana C, Andújar-Vera F, et al. Int J Mol Sci. 2021;22(9):4303. Labcorp. Accessed April 21, 2026. https://www.labcorp.com/tests/001107/alkaline-phosphatase Mercimek-Mahmutoglu S, Sidky S, Hyland K, et al. Orphanet J Rare Dis. 2015;10:12. Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB. Clin Biochem. 2014;47(3):158-165. Pierpont EI, Simmons JH, Spurlock KJ, Shanley R, Sarafoglou KM. Orphanet J Rare Dis. 2021;16(1):80. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. Bianchi ML, Bishop NJ, Guañabens N, et al. Osteoporos Int. 2020;31(8):1445-1460. Rush E, Brandi ML, Khan A, et al. Osteoporos Int. 2024;35(1):1-10. Peroutka C, Beck NM, Gough E, Marzinke M, Hoover-Fong J. Published online February 26, 2021. Polubriaginof F, Tatonetti NP, Vawdrey DK. AMIA Annu Symp Proc. 2015;2015:2035-2042. US National Library of Medicine. MedlinePlus. Updated July 28, 2021. Accessed April 21, 2026. https://medlineplus.gov/download/genetics/understanding/testing.pdf Brandi ML, Khan AA, Rush ET, et al. Osteoporos Int. 2024;35(3):439-449. Hoff P, Mann A, Steinmüller M, Aliluev A. BMJ Open. 2025;15(7):e097235. Mornet E. Metabolism. 2018;82:142-155. Durrough C, Colazo JM, Simmons J, et al. Bone. 2021;142:115695. Dahir KM, Seefried L, Kishnani PS, et al. Orphanet J Rare Dis. 2022;17(1):277. Högler W, Langman C, Gomes da Silva H, et al. BMC Musculoskelet Disord. 2019;20(1):80. Khan AA, Brandi ML, Rush ET, et al. Osteoporos Int. 2024;35(3):431-438. Kishnani PS, Rush ET, Arundel P, et al. Mol Genet Metab. 2017;122(1-2):4-17. Shapiro JR, Lewiecki EM. J Bone Miner Res. 2017;32(10):1977-1980.