Summary:
Object: Chronic Congenital Hyperphosphatasia (CCH) is a very rare and severe
metabolic bone disease, also known as Juvenile Paget Disease and Chronic
Idiopathic Hyperphosphatasia. The purpose of the present study was to record
and evaluate all the case-reports that have been announced so far and to draw
useful conclusions regarding the clinical presentation, diagnosis, differential
diagnosis and treatment of the disease.
Method: We performed an extended review of the international bibliography from
1956 until 2012. Our information is based on the majority of case-reports and
on smaller reviews that have been published in all these years.
Results and Conclusions: CCH is a hereditary syndrome, transmitted with the
autosomal recessive type of inheritance. Only 55 cases have been reported until
our days and, in the majority of them, inactivating mutations of the TNFRSF11B
gene have been identified. Diagnosis is usually made between 2 to 8 years of
life and is based on the typical and characteristic clinical, imaging,
laboratory and histological findings of the disease. Therapy is mainly based on
calcitonin and/or bisphosphonates administration at much higher than the
conventional doses. In addition, new therapeutic approaches, like denosumab or
recombined osteoprotegerin, may be proved even more effective in the next
years.
Keywords:
Hyperphosphatasia, Juvenile, Paget, TNFRSF11B, Osteoprotegerin
