Chronic Congenital Hyperphosphatasia (Juvenile Paget’s Disease) - A Review

  • Dimitrios Stefanopoulos
  • Aikaterini Catsouli
Keywords: Hyperphosphatasia, Juvenile, Paget, Pathogenesis, Treatment


Chronic Congenital Hyperphosphatasia (or «Juvenile Paget’s Disease”) is an exceptionally rare bone disease, which registers currently just over fifty cases in worldwide literature. It is an inherited skeletal disorder, with very early onset, extremely high bone turnover and bone mineralization disorders that affects the whole skeleton. This review examines the published case reports to date and focuses on the pathogenesis, clinical features, epidemiology, diagnosis and therapeutic approaches of the disease.


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Author Biographies

Dimitrios Stefanopoulos

Endocrinologist Laboratory for Research of the Musculoskeletal System “Th. Garofalidis”, KAT Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece

Aikaterini Catsouli

Orthopaedic Surgeon, 1st Health District, Health Center Alexandras Avenue,119, Ampelokipoi 11475, & General Children’s Hospital of Athens Panagioti &Aglaias Kyriakou, Thivon & Levadias 3, Goudi 11527