Medication

Calcium and vitamin D supplements are sometimes useful, as the bone does not mineralise well with FD. Calcium content of food in this country is often insufficient, as is its vitamin D level. They are generally administered in the form of tablets and there are no serious complications from this type of treatment. Phosphorus can be useful in patients that have urinary wasting, in order to improve mineralisation of the bone tissue. It is taken in association with a specific type of vitamin D as a tablet or as drops. Occasionally abdominal pain is felt or diarrhea is observed. Bisphosphonates are useful drugs in the treatment of various bone diseases (osteoporosis, Paget’s disease and certain cancers). They reduce the destruction of bone tissue and can allow rigidity of the bone to be restored. For FD, one of these products (pamidronate or Aredia) has been used for approximately fifteen years. Some studies carried out on a small number of patients felt that they were effective for pain relief and saw an improvement in X-ray images. However, taking into account the rarity of the disease, so far it has not been possible to carry out a perfectly sound study, comparing the effect of Aredia with that of a placebo (a product which contains no active ingredients), as systematically happens today for any new drug. A study of this type, known as a randomised placebo-controlled trial, is underway in the US for a similar product (alendronate or Fosamax), and a study of this type is starting in Europe with risedronate (Actonel), which is the PROFIDYS clinical trial. A bisphosphonate even more powerful than Aredia – zoledronic acid or Zometa – has been trialled on patients with the disease who have displayed a resistance to Aredia, but with very little success.

Surgery

Surgery is useful in many different situations. Firstly, following a fracture, to reduce the fracture and establish osteosynthesis equipment, to prevent new fractures occurring. Before a fracture, surgery is also very useful as a preventative measure to reduce the risk of fractures. The most useful technique is the insertion of what is known as osteosynthesis equipment, to reinforce the bone. These operations are carried out when the bone is thought to be very fragile, following an assessment via plain film x-ray or a CT scan. A classic operation starts with the removal of the dysplasic tissue, followed by replacing it with a bone graft (the bone graft being taken from the pelvic bone). Unfortunately, the disease will relapse in the future, as the mutation remains present in the bone.

Created: 09 june 2010