This disease is characterised by bone resorption and formation (bone turnover) being increased as much as 50 times normal, the results of which are large, vascular, deformed, painful bones which fracture.
Bisphosphonates (etidronate, pamidronate, til-udronate) are effective because of their inhibition of crystal formation, growth and dissolution, such as must occur in bone mineralisation and déminéralisation. The response is dose-related and remission after a course may last up to two years. Calcition (which inhibits bone resorption) has been largely superseded by the bisphosphonates but is useful to reduce bone blood flow before operation.
The functions of vitamin E may be to take up (scavenge) the free radicals generated by normal metabolic process and by substances in the environment, e.g. hydrocarbons, and so to prevent them attacking polyunsaturated fats in cell membranes with resultant cellular injury. A deficiency syndrome is now recognised, including peripheral neuropathy with spinocerebellar degeneration; and a haemolytic anaemia in premature infants.
Alpha tocopherol acetate (Ephynal) pharmacotherapy may benefit the neuromuscular complications of congential cholestasis and abetalipoproteinaemia.
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