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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 manifestations1,3,6,7

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

In infants, even a delay of months can be life-threatening3,6

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

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 hypophosphatasia2-4

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 HPP
Image adapted from Moulin et al.9
The skeletal manifestations of hypophosphatasia, including rachitic, poorly mineralized, or easily-fractured bones can resemble3,4:

Nutritional rickets
X-linked hypophosphatemic rickets
Osteogenesis imperfecta
Osteomalacia
Osteopenia/osteoporosis
Chondrodysplasia with bone-mineralization defects

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 resemble1,2:

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 as1,2:

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

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 hypophosphatasia2,4,13

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…"

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