Medical History
Premature loss of baby teeth with root intact, 2 nontraumatic fractures in his teenage years, kidney stone 2 years ago, ALP value reported as 30 U/L* on lab results 2 years ago.
Managing hypophosphatasia (HPP) is a team effort
Stay connected to the HPP community
Assemble a multidisciplinary disease management team to provide comprehensive care to your patients with HPP1,2
Older children and adults
Neonates/infants
Adapted from Kishnani PS, et al. Mol Genet Metab. 2017;122(1-2):4-17.
Adapted from Kishnani PS, et al. Mol Genet Metab. 2017;122(1-2):4-17.
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Healthcare professional resources
Signs + Symptoms Tool
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Lynn Kohlmeier, MD (1:41)
Adult Endocrinologist
Eric Rush, MD(4:22)
Clinical Geneticist
HPP Resources
References: 1. Kishnani PS, et al. Mol Genet Metab. 2018;122(1-2):4-17. doi: 10.1016/j.ymgme.2017.07.010 2. Bianchi ML, et al. Osteoporos Int. 2020;31(8):1445-1460. doi: 10.1007/s00198-020-05345-9
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Case Study:
Identifying and Diagnosing HPP.
Case Study: Identifying and Diagnosing HPP.
This is Nathan
A 52-year-old man referred to an endocrinologist for fatigue and pain.
Hypothetical patient case.
History of presenting illness
- Bone pain in his back and thighs
- Chronic fatigue, which negatively impacts his work as a high school teacher
- Pain has been ongoing for years, but he was dismissive of symptoms because several family members reported similar experiences
Social History
High school teacher for the past 25 years, denies tobacco or alcohol use.
Family history
Osteoporosis (mother); hypertension (father, myocardial infarction at 67).
Medications
Over-the-counter medication twice daily for pain, calcium and vitamin D supplement once daily.
Lab results show low ALP but it is not noted as a concern by the physician
(H) = high, (L) = low.
*Age- and sex-adjusted normal range for adults, >20 years and older, 40-120 U/L.1-5
Check with your lab for their appropriate age and sex-adjusted reference range.
References: 1. Adeli K, et al. Clin Chem. 2015;61(8):1049-1062. doi: 10.1373/clinchem.2015.240515 2. Schumann G, et al. Clin Chem Lab Med. 2011;49(9):1439-1446. doi: 10.1515/CCLM.2011.621 3. Quest Diagnostics. Alkaline phosphatase. Accessed July 28, 2021. https://testdirectory.questdiagnostics.com/test/test-detail/234/alkaline-phosphatase? cc=MASTER 4. Labcorp. Alkaline phosphatase. Accessed July 28, 2021. https://www.labcorp.com/tests/001107/alkaline-phosphatase# 5. ARUP Laboratories. Alkaline phosphatase isoenzymes, serum or plasma. Accessed July 28, 2021. https://ltd.aruplab.com/Tests/Pub/0021020
Case Study:
Identifying and Diagnosing HPP.
Case Study: Identifying and Diagnosing HPP
This is Ronny
11-year-old boy referred to a pediatric endocrinologist for weakness and developmental delays.
Hypothetical patient case.
History of presenting illness
- Falling behind peers in growth and experiencing delayed motor development
- Short stature, mild bowing of the legs, and a slight waddling gait
- Complains of feeling weak and tired, and experiences anxiety at school while interacting with his peers
Medical History
History of dental abscesses, delayed walking, and missed multiple motor milestones
Social History
Has been behind peers in motor milestones and stature; struggles to keep up with peers in physical activities
Family history
Type 2 diabetes and hypertension (father)
Medications
None
Lab results show low ALP it is not noted as a concern by the physician
(L) = low.
*Age- and sex-adjusted normal range for 10 to <13 years, male, 141-460 U/L.1
Check with your lab for their appropriate age and sex-adjusted reference range.
Reference: 1. Colantonio DA, et al. Clin Chem. 2012;58(5):854-868. doi: 10.1373/clinchem.2011.177741
Case Study:
Identifying and Diagnosing HPP.
Case Study: Identifying and Diagnosing HPP.
This is Hannah
7-year-old girl seeing a pediatric endocrinologist for short stature and fatigue.
Hypothetical patient case.
History of presenting illness
- Short stature (consistently in the second to third percentile for height since birth), mild knock knees
- Premature tooth loss (with root intact) as a young child
- Complaining of feeling weak and tired for the past 3 months
Medical History
History of atraumatic tooth loss at 3 years of age, slight delay in meeting walking milestones, recent bout with streptococcal pharyngitis, treated with antibiotics.
Social History
Lives with mother, father, and older brother
Family history
Mother and father are both below-average height
Medications
None currently
Lab results show low ALP but it is not noted as a concern by the physician
(L) = low.
*Age- and sex-adjusted normal range for adults, 1 to {"<"}10 years, female, 156-369 U/L.1
Check with your lab for their appropriate age- and sex-adjusted reference range.
Reference: 1. Colantonio DA, et al. Clin Chem. 2012;58(5):854-868. doi: 10.1373/clinchem.2011.177741
Age- and sex-adjusted ALP reference ranges (U/L)1-6
While high ALP levels typically raise red flags, low ALP levels are often overlooked.
*Check with your lab for their appropriate age- and sex-adjusted reference range.
NOTE: Graph adapted from the Canadian Laboratory Initiative on Pediatric Reference Intervals (CALIPER) project. CALIPER samples from 1072 male and 1116 female participants (newborn to 18 years) were used to calculate age- and sex-specific reference intervals. No variation in ALP based on ethnic differences was observed.1
References: 1. Colantonio DA, et al. Clin Chem. 2012;58(5):854-868. doi: 10.1373/clinchem.2011.177741 2. Adeli K, et al. Clin Chem. 2015;61(8):1049-1062. doi:10.1373/clinchem.2015.240515 3. Schumann G, et al. Clin Chem Lab Med. 2011;49(9):1439-1446. doi:10.1515/CCLM.2011.621 4. Quest Diagnostics. Alkaline phosphatase. Accessed August 31, 2021. https://testdirectory.questdiagnostics.com/test/test-detail/234/alkaline-phosphatase?cc=MASTER 5. Labcorp. Alkaline phosphatase. Accessed August 31, 2021. https://www.labcorp.com/tests/001107/alkaline-phosphatase 6. ARUP Laboratories. Alkaline phosphatase isoenzymes, serum or plasma. Accessed August 31, 2021. https://ltd.aruplab.com/Tests/Pub/0021020