The following patient case studies illustrate the importance of early diagnosis, and that hypophosphatasia (HPP) is included as a differential diagnosis in investigations of diseases with similar symptoms. Click on the links to read the whole case study. In two of the case studies there is also an option for interactive review of the case in question.
An 11-month-old boy has been diagnosed with rickets and treated from the age of 6 months with increasing doses of calcium and vitamin D supplements. The ALP level is not tested and the symptoms worsen due to incorrect diagnosis and treatment. Eventually hypophosphatasia is diagnosed, after a 5-month delay.

 

Case study: Ineffective management of an infant due to misdiagnosis of HPP (Mohn 2011) 
A 9-year-old girl with a history of repeated fractures after minimal trauma and bone pain. Growth is normal, she has no visible signs of rickets and only later is it confirmed that she has an abnormally early loss of deciduous teeth. Only at age 15 is her ALP activity analysed. It shows low levels. Together with genetic analysis, the diagnosis of hypophosphatasia is confirmed in both the girl and her sister and mother.

 

Case study: HPP presenting in a 9-year-old girl with subsequent family screening (Moulin 2009)
A 50-year-old woman with bilateral femoral stress fractures is treated with calcium, vitamin D and bisphosphonates for 2.5 years for the incorrect diagnosis of osteoporosis before she is diagnosed with hypophosphatasia.

 

Case study: ”Atypical Femoral Fractures” During Bisphosphonate Exposure in Adult Hypophosphatasia (Sutton 2012) 


Mohn A et al. Acta Paediatr 2011; 100: 43-46.
Moulin P et al. Eur J Pediatr 2009; 168: 783-788.
Sutton RA et al. J Bone Miner Res 2012; 27: 987-994.

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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