Bone Pain and Surgery

Gauchers News Contents

Dr Atul Mehta, who heads the Gaucher Clinic at the Royal Free Hospital, London, spoke at the Gaucher Conference on 30 November 2003 about the bone pain, disability and surgery which has affected patients with Gaucher Disease, and can still remain a problem.

Gaucher Disease leads to many symptoms but the most painful, especially for adults, can be in the bone. The pain, which may also cause a temperature, can be:

The pain is caused by changes in the bone structure. There may be bone marrow infiltration of Gaucher cells and this can disturb the blood flow and lead to necrosis (bone death). The results can be fractures and osteomyelitis (infection in the bone) which has been frequently reported.

Bone is living tissue but normal remodelling (regrowth) is often impaired in patients with Gaucher Disease. There can be thinning of the bone matrix (structure of the bone) both generally or locally. There can also be thickening of the matrix due to injury.

Some patients say there is nothing wrong with their bones but abnormalities show up on X-rays and other scans. In addition some patients (about one third of all our adult patients) present with severe bone symptoms while others with the same genetic mutation have none. This is poorly understood and hopefully the Bone Research Study to be carried out by the four Gaucher Centres including the Royal Free, will throw light on this in the next few years.


There are different methods of looking at bone. X-rays are the first way to image bone disease but are limited in what they show. CT scans are also limited in what can be seen. MRI is a more sensitive tool to show the different types of marrow in the bone and possibly fractures and infections. Radionulide imaging measures bone forming activity and infiltration of Gaucher cells. Dual energy x-ray absorbiometry (DEXA) scans show bone density. However although these tools can be useful, they are not sensitive enough and it is often difficult to quantify the changes.

Blood and urine tests also can show how much bone is formed and destroyed. But again these tests do not give enough information.

Enzyme replacement therapy for bone disease

Enzyme replacement therapy has shown beneficial effects on bone marrow function and has reduced the frequency of bone crises. In a study in the United States, children have shown increased cortical bone thickness after three to four years of treatment.

It is believed that therapy stabilises bone disease but pre-existing bone disease remains a problem; when bone is dead, enzyme replacement therapy cannot reverse this. The treatment also improves mobility and quality of life and a European study has shown that enzyme therapy can improve the bone density of patients.

So far, studies have not shown overwhelming differences in the changes at different dose levels.

Bisphosphonate therapy

Treatment with a range of bisphos-phonate drugs, eg sodium clodronate, alendronate, reduces osteoclastic activity (breakdown of bone) and enhances osteoblastic activity (growth of bone). It modulates chemical messengers and is effective in various bone diseases including osteoporosis. Newer agents eg zoledronate appear to be more active than the earlier group of drugs eg etidronate.

Surgery for Skeletal Disease

Surgery may be necessary for fractures and osteomyelitis (where the area may be infected or not healing). Hip replacements as well as shoulder and knee replacement may also be required and need special care due to the risk of infection (especially if the patient has no spleen), bleeding (if the patient has low platelet or other blood clotting abnormalities), abnormal bone marrow or fragile bones.

The surgery should take place at one of the Gaucher centres or after consultation between the operating surgeon and one of the Gaucher specialists. Surgery can be safe and very successful if the necessary precautions are taken.

Autologous blood transfusion

Autologous blood transfusion means donating your own blood to be given back to you during or after surgery. This may not be suitable for all patients and testing for viral or other infections is still required. Bank blood is pretty safe, but the best blood transfusion is no blood transfusion. See Gauchers News, April 2003 for an article on autologous blood transfusions.

Gauchers News Contents

Source: Gauchers News March 2004.
© Copyright Gauchers Association 2004.