Patients with hypophosphatasia (HPP) risk being incorrectly diagnosed, since the symptoms can overlap with those of many other, more common, diseases. Common misdiagnoses can be found in the table below.

Vitamin D deficiency Osteomalacia
Hypophosphatemic rickets Osteoporosis
Osteogenesis imperfecta (OI) Periodontal disease
Skeletal dysplasia Nephrocalcinosis
Neonatal hyperparathyroidism Atypical/repeated/slow-healing fractures
Vitamin B6-related seizures Pseudogout
Chondrocalcinosis  

In investigation and diagnosis of bone and/or mineral-related diseases, hypophosphatasia should be considered. Low activity of alkaline phosphatase (ALP) and high concentrations of ALP substrate differentiates hypophosphatasia from other diseases with similar symptoms. A simple blood test can make it easier to reach the right diagnosis.

HYPOPHOSPHATASIA (HPP) CAN BE DISTINGUISHED FROM OTHER DISEASES WITH SIMILAR SYMPTOMS BY ANALYSING LABORARTORY RESULTS
  Sjukdom
  Hypophosphatasia
(HPP)
Rickets Hypophosphatemic
rickets
Osteogenesis
imperfecta (OI)
Alkaline phosphatase (ALP) Normal
Serum PLP - N/A
Calcium  or normal Normal Normal
Phosphate  or normal Normal
Parathyroid
hormone (PTH)
 or normal Normal Normal
Vitamin D Normal  or normal Normal

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SYMPTOMS AND CONDITIONS
ASSOCIATED WITH HYPOPHOSPHATASIA

COMMON SYMPTOMS AND CONDITIONS THAT
CAN BE CAUSED BY HYPOPHOSPHATASIA READ MORE

THE ALP CALCULATOR
– DIAGNOSTIC TOOL

LOW ALP ACTIVITY KEY TO DIAGNOSIS READ MORE


IMPORTANT DIFFERENTIAL DIAGNOSES

IMPORTANT DIFFERENTIAL 
DIAGNOSES/CONDITIONS READ MORE
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