hpp profile

profiling HYPOPHOSPHATASIA (HPP)

Take a look at the case file of hypophosphatasia to learn how it stays hidden and how it may be causing harm to your patients

Hypophosphatasia is an inherited, multisystemic, rare metabolic disorder characterized by persistently low age- and sex-adjusted alkaline phosphatase (ALP) activity that may progress over time.1,2

11A0763

HPP Profile

Hypophosphatasia may become debilitating and can cause damage to multiple systems in the body beyond the skeletal system.3-5

How hypophosphatasia CAN cause harm

How hypophosphatasia CAN cause harm

Adults with hypophosphatasia may experience a full spectrum of symptoms. In addition to the typical skeletal effects, pain and muscular/metabolic manifestations are also common in adults with hypophosphatasia, regardless of age of onset.6,7*

*Adults may have a history of childhood symptoms.6

Studies of adult patients found:

Patient adults

Studies of adult patients found:

95%

of patients reported pain and 76% said bone pain was severe enough to limit activity7†

74%

of patients reported inability to climb stairs and 81% reported inability to descend stairs7†

78%

had difficulty walking7†

>50%

A separate study of patients with hypophosphatasia reported their health problems negatively affected their physical and mental functioning8‡

Study red line

†Data collected from patients and caregivers via 2 survey instruments (web-based and phone interviews) to evaluate patient-reported symptomatology and burden of disease of hypophosphatasia (N=125). The majority of patients in this study (67%) reported pediatric onset of hypophosphatasia symptoms. Of patients reporting adult-onset hypophosphatasia (27%), 50% (17/34) reported history or surgeries, suggestive of pediatric onset of symptoms.7

‡Data from the Global HPP Registry, an observational, longitudinal, multinational, long-term study of patients ≥18 years with a confirmed diagnosis of hypophosphatasia using physician-entered medical record data from consenting patients (N=304). Of the 304 adults, 33% (~100 patients) had pediatric-onset HPP.8

The multisystemic impact of hypophosphatasia1,6

neurologic neurologic Neurologic
dental dental Dental
muscular muscular Muscular
rheumatic rheumatic Rheumatic
renal renal Renal
orthopedic orthopedic Orthopedic/ Skeletal

Neurologic9

Fatigue, headaches, sleep disturbances, neuropathy, and hearing loss

Dental1,10,11

Adult tooth loss, abnormal dentition, and periodontal disease

Disclaimer: This image is not taken from a hypophosphatasia (HPP) patient.

Muscular6,10,12

Muscle pain and weakness, muscular hypotonia, reduced grip force, history of abnormal gait, immobility, and tendon calcification

Reduced grip force assessed by digital hand dynamometer

Reproduced with permission from Jandl NM, et al. Calcif Tissue Int. 2021;108(3):288-301.

Rheumatic1,6,10

Calcific periarthritis, chondrocalcinosis, pain, pseudogout, and osteoarthropathy

Disclaimer: This image is not taken from a hypophosphatasia (HPP) patient.

Renal3,6,10

History of hypercalcemia, hyperphosphatemia, kidney stones, and nephrocalcinosis

Orthopedic/skeletal1,3,6,10,13

Fractures, pseudofractures, history of rickets-like changes, osteomalacia, hypomineralization, bone/joint pain, and history of bone deformities

Neurologic<sup>9</sup> Neurologic9
Arrow left
Arrow right

Fatigue, headaches, sleep disturbances, neuropathy, and hearing loss

Neurologic image
Dental<sup>1,10,11</sup> Dental1,10,11
Arrow left
Arrow right

Adult tooth loss, abnormal dentition, and periodontal disease

Dental x-ray one

Disclaimer: This image is not taken from a hypophosphatasia (HPP) patient.

Muscular<sup>6,10,12</sup> Muscular6,10,12
Arrow left
Arrow right

Muscle pain and weakness, muscular hypotonia, reduced grip force, history of abnormal gait, immobility, and tendon calcification

Muscular image

Reduced grip force assessed by digital hand dynamometer

Reproduced with permission from Jandl NM, et al. Calcif Tissue Int. 2021;108(3):288-301.

Rheumatic<sup>1,6,10</sup> Rheumatic1,6,10
Arrow left
Arrow right

Calcific periarthritis, chondrocalcinosis, pain, pseudogout, and osteoarthropathy

Rheumatic image

Disclaimer: This image is not taken from a hypophosphatasia (HPP) patient.

Renal<sup>3,6,10</sup> Renal3,6,10
Arrow left
Arrow right

History of hypercalcemia, hyperphosphatemia, kidney stones, and nephrocalcinosis

Renal image
Orthopedic/skeletal<sup>1,3,6,10,13</sup> Orthopedic/skeletal1,3,6,10,13
Arrow left
Arrow right

Fractures, pseudofractures, history of rickets-like changes, osteomalacia, hypomineralization, bone/joint pain, and history of bone deformities

Orthopedic image

Selected reported body system signs/symptoms or interventions in adult patients with HPP6:

FPO IMAGE
Percent of patients

Observational, multinational, prospective Global HPP Registry study conducted in adults (n=148; ≥18 years) from January 2015 to September 2017.6

12%

of adult patients with hypophosphatasia have a history of neurologic symptoms6*

*Neurologic symptoms refer to craniosynostosis, developmental delay, increased intracranial pressure, and seizures.

A retrospective chart review studied the prevalence of common neurologic symptoms associated with hypophosphatasia9,a,b

FPO IMAGE

aPrevalence of neurologic symptoms in adults with hypophosphatasia (N=82) compared with the general US population.9

bData taken from a retrospective chart review performed on a series of 82 HPP patients.9

Hypophosphatasia CAN CAUSE INCREASING HARM

It’s vital to consider that current symptom presentation may not accurately represent the degree of disease progression. Patients with hypophosphatasia can experience a wide range of unexplained and debilitating symptoms that result in a frustrating journey to find relief. These clinical manifestations can change and accumulate, reflecting disease evolution and progression over time.1,6,8,9,14-16

Pin

Reduced alkaline phosphatase levels during childhood may affect peak bone mass later in life17,18

Reduced alkaline phosphatase levels during childhood may affect peak bone mass later in life17,18

Percent of patients with hypophosphatasia fractures
HPP Profile
HPP Profile

Infants and young children (≤5 years)19,a

HPP Profile

Children and adolescents (5-15 years)20,b

HPP Profile

Adults (≥18 years)7,c

aData from a multinational, noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or phosphoethanolamine [PEA]), below-normal ALP and radiographic abnormalities, and/or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6-responsive seizures.19

bData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).20

cCombined data from HIPS/HOST, an internet questionnaire and telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. One hundred twenty-five adults participated.7

aData from a multinational, noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or phosphoethanolamine [PEA]), below-normal ALP and radiographic abnormalities, and/or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6-responsive seizures.19

bData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).20

cCombined data from HIPS/HOST, an internet questionnaire and telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. One hundred twenty-five adults participated.7

HPP patient note pin

In a meta-analysis of patients* with hypophosphatasia who were followed through adulthood (N=265), there was a high risk of fractures (one or more, or multiple), gross motor/ambulatory difficulties, pain, and surgery with increasing age.21

*Data based on patients with first reported occurrence of HPP manifestations in adulthood (n=43), in utero (n=30), infancy/early childhood (n=101), childhood (n=78), adolescence (n=9), and unreported (n=4).

Pin

94%

of patients* with at least 1 year of follow-up experienced at least 1 manifestation or event that contributed to the clinical burden of hypophosphatasia.21

*16.5% (43 patients/cases) had their first reported occurrence of HPP manifestations at 18 years of age or older.

Pin

Reduced alkaline phosphatase levels during childhood may affect peak bone mass later in life18,19

Reduced alkaline phosphatase levels during childhood may affect peak bone mass later in life18,19

Percent of patients with hypophosphatasia fractures
HPP Profile
HPP Profile

Infants and young children (≤5 years)20,a

HPP Profile

Children and adolescents (5-15 years)21,b

HPP Profile

Adults (≥18 years)22,c

aData from a multinational, noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or phosphoethanolamine [PEA]), below-normal ALP and radiographic abnormalities, and/or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6-responsive seizures.20

bData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).21

cCombined data from HIPS/HOST, an internet questionnaire and telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. One hundred twenty-five adults participated.22

aData from a multinational, noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or phosphoethanolamine [PEA]), below-normal ALP and radiographic abnormalities, and/or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6-responsive seizures.20

bData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).21

cCombined data from HIPS/HOST, an internet questionnaire and telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. One hundred twenty-five adults participated.22

HPP patient note pin

In a meta-analysis of patients* with hypophosphatasia who were followed through adulthood (N=265), there was a high risk of fractures (one or more, or multiple), gross motor/ambulatory difficulties, pain, and surgery with increasing age.7

*Data based on patients with first reported occurrence of HPP manifestations in adulthood (n=43), in utero (n=30), infancy/early childhood (n=101), childhood (n=78), adolescence (n=9), and unreported (n=4).

Pin

94%

of patients* with at least 1 year of follow-up experienced at least 1 manifestation or event that contributed to the clinical burden of hypophosphatasia.7

*16.5% (43 patients/cases) had their first reported occurrence of HPP manifestations at 18 years of age or older.

Pin

Reduced alkaline phosphatase levels during childhood may affect peak bone mass later in life16,17

Reduced alkaline phosphatase levels during childhood may affect peak bone mass later in life16,17

Percent of patients with hypophosphatasia fractures
HPP Profile
HPP Profile

Infants and young children (≤5 years)19,a

HPP Profile

Children and adolescents (5-15 years)20,b

HPP Profile

Adults (≥18 years)7,c

aData from a multinational, noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or phosphoethanolamine [PEA]), below-normal ALP and radiographic abnormalities, and/or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6-responsive seizures.18

bData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).19

cCombined data from HIPS/HOST, an internet questionnaire and telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. One hundred twenty-five adults participated.20

aData from a multinational, noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or phosphoethanolamine [PEA]), below-normal ALP and radiographic abnormalities, and/or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6-responsive seizures.18

bData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).19

cCombined data from HIPS/HOST, an internet questionnaire and telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. One hundred twenty-five adults participated.20

HPP patient note pin

In a meta-analysis of patients* with hypophosphatasia who were followed through adulthood (N=265), there was a high risk of fractures (one or more, or multiple), gross motor/ambulatory difficulties, pain, and surgery with increasing age.21

*Data based on patients with first reported occurrence of HPP manifestations in adulthood (n=43), in utero (n=30), infancy/early childhood (n=101), childhood (n=78), adolescence (n=9), and unreported (n=4).

Pin

94%

of patients* with at least 1 year of follow-up experienced at least 1 manifestation or event that contributed to the clinical burden of hypophosphatasia.21

*16.5% (43 patients/cases) had their first reported occurrence of HPP manifestations at 18 years of age or older.

WHY Hypophosphatasia SHOULD REMAIN ON
YOUR RADAR

Severe HPP occurs in 1:300,000 births and milder HPP has been reported by some sources to occur in up to 1:6,370 births. The overall prevalence of all forms of hypophosphatasia is unknown. It is officially classified as a rare disease.
Affected individuals may be unrecognized or misdiagnosed. Globally, HPP affects males and females of all ages and appears to be especially prevalent in people of Caucasian descent.1,22-24

Proper diagnosis of hypophosphatasia is crucial

Misdiagnosing hypophosphatasia can put patients at risk, with some commonly used therapies prescribed for misdiagnoses negatively impacting their condition.7

Learn the risk of misdiagnosis
Usual Suspects

References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. McKiernan FE, Berg RL, Fuehrer J. Clinical and radiographic findings in adults with persistent hypophosphatasemia. J Bone Miner Res. 2014;29(7):1651-1660. 3. Bianchi ML, Bishop NJ, Guañabens N, et al; Rare Bone Disease Action Group of the European Calcified Tissue Society. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int. 2020;31(8):1445-1460. 4. Yokoi K, Nakajima Y, Shinkai Y, et al. Clinical and genetic aspects of mild hypophosphatasia in Japanese patients. Mol Genet Metab Rep. 2019;21:100515. 5. Hofmann C, Girschick HJ, Mentrup B, et al. Clinical aspects of hypophosphatasia: an update. Clinic Rev Bone Miner Metab. 2013;11:60-70. 6. Hӧgler W, Langman C, Gomes da Silva H, et al. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord. 2019;20(1):80. 7. Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS. Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabolism. 2016;65(10):1522-1530. 8. Seefried L, Dahir K, Petryk A, et al. Burden of illness in adults with hypophosphatasia: data from the Global Hypophosphatasia Patient Registry. J Bone Miner Res. 2020;35(11):2171-2178. 9. Colazo JM, Hu JR, Dahir KM, Simmons JH. Neurological symptoms in hypophosphatasia. Osteoporos Int. 2019;30(2):469-480. 10. Kishnani PS, Rush ET, Arundel P, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017;122(1-2):4-17. 11. Bloch-Zupan A. Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective. Int J Paediatr Dent. 2016;26(6):426-438. 12. Jandl NM, Schmidt T, Rolvien T, et al. Genotype-phenotype associations in 72 adults with suspected ALPL-associated hypophosphatasia. Calcif Tissue Int. 2021;108:288-301. 13. Shapiro JR, Lewiecki EM. Hypophosphatasia in adults: clinical assessment and treatment considerations. J Bone Miner Res. 2017;32(10):1977–1980. 14. Pierpont EI, Simmons JH, Spurlock KJ, Shanley R, Sarafoglou KM. Impact of pediatric hypophosphatasia on behavioral health and quality of life. Orphanet J Rare Dis. 2021;16(1):80. 15. Rush ET, Moseley S, Petryk A. Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview. Orphanet J Rare Dis. 2019;14(1):201. 16. Salles JP. Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 2020;41(1):13-27. 17. Davies JH, Evans BA, Gregory JW. Bone mass acquisition in healthy children. Arch Dis Child. 2005;90(4):373-378. 18. Maggioli C, Stagi S. Bone modeling, remodeling, and skeletal health in children and adolescents: mineral accrual, assessment and treatment. Ann Pediatr Endocrinol Metab. 2017;22:1-5. 19. Whyte MP, Leung E, Wilcox WR, et al. Natural history of perinatal and infantile hypophosphatasia: a retrospective study. J Pediatr. 2019;209:116-124.e4. 20. Whyte MP, Madson KL, Munns CF, et al. A retrospective, multi-national, non-interventional, natural history study of the childhood form of hypophosphatasia. Abstract presented at: Endocrine Society’s 97th Annual Meeting and Expo; March 15, 2015; San Diego, CA. 21. Szabo SM, Tomazos IC, Petryk A, et al. Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systemic literature review. Orphanet J Rare Dis. 2019;14(1):85. 22. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439-445. 23. Whyte MP. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman JA, Igarashi T, eds. Genetics of Bone Biology and Skeletal Disease. Academic Press; 2013;337-360. 24. NORD. Hypophosphatasia. 2022. Accessed March 30, 2023. https://rarediseases.org/rare-diseases/hypophosphatasia/

WHY Hypophosphatasia SHOULD REMAIN ON
YOUR RADAR

Severe HPP occurs in 1:300,000 births and milder HPP has been reported by some sources to occur in up to 1:6,370 births. The overall prevalence of all forms of hypophosphatasia is unknown. It is officially classified as a rare disease.
Affected individuals may be unrecognized or misdiagnosed. Globally, HPP affects males and females of all ages and appears to be especially prevalent in people of Caucasian descent.1,8,12,23

Proper diagnosis of hypophosphatasia is crucial

Misdiagnosing hypophosphatasia can put patients at risk, with some commonly used therapies prescribed for misdiagnoses negatively impacting their condition.22

Learn the risk of misdiagnosis
Usual Suspects

References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. McKiernan FE, Berg RL, Fuehrer J. Clinical and radiographic findings in adults with persistent hypophosphatasemia. J Bone Miner Res. 2014;29(7):1651-1660. 3. Bianchi ML, Bishop NJ, Guañabens N, et al; Rare Bone Disease Action Group of the European Calcified Tissue Society. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int. 2020;31(8):1445-1460. 4. Yokoi K, Nakajima Y, Shinkai Y, et al. Clinical and genetic aspects of mild hypophosphatasia in Japanese patients. Mol Genet Metab Rep. 2019;21:100515. 5. Hofmann C, Girschick HJ, Mentrup B, Graser S, Seefried L, Liese J, Jakob F. Clinical aspects of hypophosphatasia: an update. Clin Rev Bone Miner Metab. 2013;11:60-70. 6. Pierpont EI, Simmons JH, Spurlock KJ, et al. Impact of pediatric hypophosphatasia on behavioral health and quality of life. Orphanet J Rare Dis. 2021;16(1):80. 7. Szabo SM, Tomazos IC, Petryk A, et al. Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systemic literature review. Orphanet J Rare Dis. 2019;14(1):85. 8. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439-445. 9. Hӧgler W, Langman C, Gomes da Silva H, et al. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord. 2019;20(1):80. 10. Nunes ME. Hypophosphatasia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. University of Washington; 2011. Accessed April 3, 2023. http://www.ncbi.nlm.nih.gov/books/NBK1150/?report=reader 11. Bishop N, Munns CF, Ozono K. Transformative therapy in hypophosphatasia. Arch Dis Child. 2016;101(6):514-515. 12. Whyte MP. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman JA, Igarashi T, eds. Genetics of Bone Biology and Skeletal Disease. Academic Press; 2013;337-360. 13. Kishnani PS, Rush ET, Arudne P, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017;122(1-2):4-17. 14. Seefried L, Dahir K, Petryk A, et al. Burden of illness in adults with hypophosphatasia: data from the Global Hypophosphatasia Patient Registry. J Bone Miner Res. 2020;35(11):2171-2178. 15. Colazo JM, Hu JR, Dahir KM, Simmons JH. Neurological symptoms in hypophosphatasia. Osteoporos Int. 2019;30(2):469-480. 16. Rush ET, Moseley S, Petryk A. Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview. Orphanet J Rare Dis. 2019;14(1):201. 17. Salles JP. Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 2020;41(1):13-27. 18. Davies JH, Evans BA, Gregory JW. Bone mass acquisition in healthy children. Arch Dis Child. 2005;90(4):373-378. 19. Maggioli C, Stagi S. Bone modeling, remodeling, and skeletal health in children and adolescents: mineral accrual, assessment and treatment. Ann Pediatr Endocrinol Metab. 2017;22:1-5. 20. Whyte MP, Leung E, Wilcox WR, et al. Natural history of perinatal and infantile hypophosphatasia: a retrospective study. J Pediatr. 2019;209:116-124.e4. 21. Whyte MP, Madson KL, Munns CF, et al. A retrospective, multi-national, non-interventional, natural history study of the childhood form of hypophosphatasia. Abstract presented at: Endocrine Society’s 97th Annual Meeting and Expo; March 15, 2015; San Diego, CA. 22. Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS. Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabolism. 2016;65(10):1522-1530. 23. NORD. Hypophosphatasia. 2022. Accessed March 30, 2023. https://rarediseases.org/rare-diseases/hypophosphatasia/

WHY Hypophosphatasia SHOULD REMAIN ON
YOUR RADAR

Severe HPP occurs in 1:300,000 births and milder HPP has been reported by some sources to occur in up to 1:6,370 births. The overall prevalence of all forms of hypophosphatasia is unknown. It is officially classified as a rare disease. Affected individuals may be unrecognized or misdiagnosed. Globally, HPP affects males and females of all ages and appears to be especially prevalent in people of Caucasian descent.1,22-24

Proper diagnosis of hypophosphatasia is crucial

Misdiagnosing hypophosphatasia can put patients at risk, with some commonly used therapies prescribed for misdiagnoses negatively impacting their condition.20

Learn the risk of misdiagnosis
Usual Suspects

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