To diagnose hypophosphatasia (HPP)

Connect perplexing symptoms with persistently low alkaline phosphatase (ALP)^1-3

Persistently low ALP can differentiate HPP from other metabolic disorders with overlapping symptoms.

HPP is a heterogenous disease. Patients may present with symptoms that affect one or more areas of the body:^1-4

Dental

Skeletal

Muscular

Renal

Respiratory

Neurological

Patient image is hypothetical.

In these patients, check ALP levels on their comprehensive metabolic panel¹

Make the connection between low ALP and HPP.

Learn more

Hear from HCPs with Experience

Lynn Kohlmeier, MD(1:41)

Adult Endocrinologist

Eric Rush, MD(4:22)

Clinical Geneticist

References: 1. Bianchi ML, et al. Osteoporos Int. 2020;31(8):1445-1460. doi: 10.1007/s00198-020-05345-9. 2. Mornet E. 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/ 3. McKiernan FE, et al. J Bone and Miner Res. 2014;29(7):1651-1660. doi: 10.1002/jbmr.2178 4. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.

Could it be HPP?

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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

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.

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

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To diagnose hypophosphatasia (HPP)

To diagnose hypophosphatasia (HPP)

Connect perplexing symptoms with persistently low alkaline phosphatase (ALP)1-3

In these patients, check ALP levels on their comprehensive metabolic panel1

Make the connection between low ALP and HPP.

Hear from HCPs with Experience

Could it be HPP?

Make the connection.

Does your patient have

perplexing symptoms?

Stay connected to the

latest in HPP!

Connect perplexing symptoms with persistently low alkaline phosphatase (ALP)^1-3

In these patients, check ALP levels on their comprehensive metabolic panel¹