Connectinglow alkaline phosphatase (ALP) with hypophosphatasia (HPP) symptoms^1-4

One or more symptoms that affect these areas of the body PLUS persistently low ALP are sufficient to diagnose HPP. Not all symptoms need to be present for an HPP diagnosis.

Neurologic

Dental

Muscular

Respiratory

Renal

Skeletal

Development/
Growth

Neurologic^2,5

Fatigue, headache, sleep disturbances, and seizures

Patient image is hypothetical.

Neurologic symptoms are frequently reported in:

Adults

Children

Infants*

*Seizures are most commonly reported in infants

Dental¹

Premature tooth loss with root intact, abnormal dentition, periodontal disease

Reproduced with permission from Bloch-Zupan A. Int Jour Paedtr Dent. 2016;26:426-438 and Reibel A. Orphanet J Rare Dis. 2009;4:6.

Problems with dentition are frequently reported in:

Adults

Adolescents

Children

Muscular¹

Muscle pain or weakness, waddling gait, difficulty walking

Patient image is hypothetical.

Muscle pain and fatigue are common symptoms experienced by:

Adults

Children

Respiratory^1,4,6-10

Rachitic chest, pulmonary insufficiency, pneumonia

Reproduced with permission from: (Left) Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. (Right) Whyte MP. Hypophosphatasia: nature’s window on alkaline phosphatase function in humans. In: Principles of Bone Biology. 3rd ed. Academic Press; 2008:1573-1598

Respiratory issues are common and particularly dangerous in:

Neonates
& Infants

Renal^1,11,12

Hypercalcemia, hypercalciuria, nephrocalcinosis

Reproduced with permission from Mohn A. Acta Paediatr. 2011;100(7):e43-e46.

Learn more about diagnosing

Renal issues such as hypercalcemia are common in ^1,11,12:

Infants

Adults

Skeletal^1,4,11,13

Bone/joint pain, fractures, rickets/osteomalacia, skeletal deformities

Image reproduced with permission from Whyte MP. JCI Insight. 2016;1(9):ceB5971.

Learn how skeletal complications can place a significant burden on a patient’s quality of life.¹⁴

Learn more

Adults

Children

Infants

Development/Growth^1,4

Failure to thrive, short stature, missed motor milestones / delayed motor development

Patient image is hypotheical

Learn more about presentation of symptoms in children and adolescents.

Learn more

Track your patient’s symptoms

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Young boy with adult patient and young girl

Patient images are hypothetical.

View case studies

Learn about all the different ways that adult, children, and adolescent patients with HPP may present in your practice.

References: 1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Bianchi ML, et al. Osteoporos Int. 2020;31(8):1445-1460. doi: 10.1007/s00198-020-05345-9 3. Mornet E, et al. Hypophosphatasia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. University of Washington; 2007. Accessed November 4, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1150/ 4. Whyte MP. Hypophosphatasia: nature’s window on alkaline phosphatase function in humans. In: Bilzikian JP, ed. Principles of Bone Biology. 3rd ed. Academic Press; 2008:1573-1598.5. Colazo JM, et al. Osteoporos Int. 2019;30(2):469-480. doi: 10.1007/s00198-018-4691-6 6. Baumgartner-Sigl S, et al. Bone. 2007;40(6):1655-1661. doi: 10.1016/j.bone.2007.01.020 7. Balasubramaniam S, et al. J Inherit Metab Dis. 2010;33(3):25-33. doi: 10.1007/s10545-009-9012-y 8. Silver MM, et al. Pediatr Pathol. 1988;8(5):483-493. doi: 10.3109/15513818809022304 9. Hӧgler W, et al. BMC Musculoskelet Disord. 2019;20(1):80. doi: 10.1186/s12891-019-2420-8 10. Whyte MP et al. J Pediatr. 2019;209:116-124. doi: 10.1016/j.jpeds.2019.01.049 11. Whyte MP. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman JA, Igarashi T, eds. Genetics of Bone Biology and Skeletal Disease. Elsevier Inc; 2013:337-360. 12. Fallon MD, et al. Medicine. 1984;63(1):12-24. 13. Zankl A, et al. Am J Med Genet Part A. 2008;146A(9):1200-1204. doi: 10.1002/ajmg.a.32202 14. Seefried L, et al. J Bone Miner Res. 2020;35(11):2171-2178. doi: 10.1002/jbmr.4130