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Low alkaline phosphatase: The biological hallmark of hypophosphatasia

Diagnosis of hypophosphatasia (HPP) is often missed or delayed.^1,2

Early and accurate diagnosis is essential to avoiding preventable morbidities and premature mortality.^3-5

Delayed diagnosis can contribute to or compound life-threatening or debilitating manifestations^1,3,6,7

Patients with hypophosphatasia (HPP) have experienced diagnostic delays from months to years.

In infants, even a delay of months can be life-threatening^3,6

Misdiagnosis can lead to ineffective management that can compound clinical consequences^1-4

Prevent misdiagnosis

Accurately diagnose hypophosphatasia with a routine laboratory test.^1,2,8

High-dose vitamin D, calcium supplements, or bisphosphonates have been shown to exacerbate symptoms of hypophosphatasia^2-4

Hypophosphatasia is often misdiagnosed because its signs and symptoms can overlap with those of other disorders.^1,2

Common misdiagnoses may include the following^1,2

Skeletal manifestations of hypophosphatasia may resemble conditions like rickets, osteogenesis imperfecta, and osteomalacia

9-year-old patient with HPP
Image adapted from Moulin et al.⁹
The skeletal manifestations of hypophosphatasia, including rachitic, poorly mineralized, or easily-fractured bones can resemble^3,4:

Nutritional rickets

X-linked hypophosphatemic rickets

Osteogenesis imperfecta

Osteomalacia

Osteopenia/osteoporosis

Chondrodysplasia with bone-mineralization defects

Muscular and rheumatologic manifestations of hypophosphatasia may resemble conditions like arthritis or hypophosphatemia

13-year-old patient with HPP
Image adapted from Beck et al.¹⁰ Rheumatologic and muscular manifestations, such as joint and muscle pain or weakness, can resemble^1,2:

Osteoarthritis/arthritis

Hypophosphatemia

Left: Incisor from patient with hypophosphatasia with root intact.
Right: Incisor with root absorbed.
Image courtesy of Research Center, Shriners Hospitals for Children – St. Louis. Tooth loss observed in hypophosphatasia may be misdiagnosed as^1,2:

Periodontal disease

Prevent misdiagnosis—accurately diagnose hypophosphatasia with a routine laboratory test.^1,2,8

Low alkaline phosphatase (ALP) can differentiate hypophosphatasia from nutritional rickets and other metabolic disorders.^1-3,11

Chart showing how lab value assessment can differentiate hypophosphatasia from other metabolic disorders

Misdiagnosis and delayed diagnosis can lead to ineffective management that can compound clinical consequences.^1,2,4,13

High-dose vitamin D, calcium supplements, or bisphosphonates have been shown to exacerbate the symptoms of hypophosphatasia^2,4,13

Hidden manifestations of hypophosphatasia

As diagnosis is often delayed, critical evaluation of patient history, including dental history, can provide a comprehensive clinical picture of the patient.¹

Learn More

Early and accurate diagnosis of hypophosphatasia is critical to avoid preventable morbidities and premature death.^3,4,16

Learn more about the consequences of missed or delayed diagnosis.

View Patient Case Studies

Patient and family experiences with hypophosphatasia

"The biggest struggle for me is the energy and keeping my pain at a place where I can still function."

"I first learned of hypophosphatasia when Abigail was diagnosed at 7 months old."

"I was born with it, struggled a lot through birth and my teen years."

"He gave me a blood test, and sure enough, my alkaline phosphatase was very low."

"We kept telling them . . . it’s not a nutrition issue, it’s something else."

"She looks like everything’s fine, when underneath there’s so many issues…"

Brittan and her mother share Brittan’s lifelong struggles with hypophosphatasia.
Dawn discusses the importance of getting the right diagnosis.
Julie discusses the challenges of growing up with hypophosphatasia.
Sueann talks about what it was like to get diagnosed with hypophosphatasia and her concerns about how it might affect her children.
The Browns recall their difficulties finding the right diagnosis and treatment advice for their child with hypophosphatasia.
Aubrey’s mother, Amy, talks about raising and caring for a child with hypophosphatasia.

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Diagnosis of hypophosphatasia (HPP) is often missed or delayed.1,2

Delayed diagnosis can contribute to or compound life-threatening or debilitating manifestations1,3,6,7

Patients with hypophosphatasia (HPP) have experienced diagnostic delays from months to years.

Misdiagnosis can lead to ineffective management that can compound clinical consequences1-4

Prevent misdiagnosis

Hypophosphatasia is often misdiagnosed because its signs and symptoms can overlap with those of other disorders.1,2

Common misdiagnoses may include the following1,2

9-year-old patient with HPPImage adapted from Moulin et al.9 The skeletal manifestations of hypophosphatasia, including rachitic, poorly mineralized, or easily-fractured bones can resemble3,4:

13-year-old patient with HPPImage adapted from Beck et al.10 Rheumatologic and muscular manifestations, such as joint and muscle pain or weakness, can resemble1,2:

Left: Incisor from patient with hypophosphatasia with root intact. Right: Incisor with root absorbed. Image courtesy of Research Center, Shriners Hospitals for Children – St. Louis. Tooth loss observed in hypophosphatasia may be misdiagnosed as1,2:

Low alkaline phosphatase (ALP) can differentiate hypophosphatasia from nutritional rickets and other metabolic disorders.1-3,11

Misdiagnosis and delayed diagnosis can lead to ineffective management that can compound clinical consequences.1,2,4,13