Monitoring and Testing Gauchers Disease

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Dr Atul Mehta runs the Gauchers Centre at the Royal Free Hospital in London together with Specialist Nurse Linda Richfield. Dr Mehta explained the need for the regular monitoring and testing of patients.

Dr Mehta looks after 55 adult patients who receive enzyme replacement therapy at the Royal Free Hospital in London. All have Type 1 Gauchers disease. Twenty nine are male and 26 female. Twelve have the N370S/N370S mutation and 13 have the N370S/84GG mutations. One sufferer from Sri-Lanka has the R463C/R463C mutations.

Clinical History and Examination

'It is important to carry out a full clinical assessment reviewing symptoms, weight, appetite and quality of life parameters including mobility,' stressed Dr Mehta. 'Bruising, signs of anaemia, size of liver and spleen should also be assessed and organ function tests taken. These should be included in a severity scoring index.

Blood Tests

'Blood tests should include the following indicators that allow the degree of Gauchers disease to be assessed:


'Imaging different parts of the body and bones is valuable and should include:

Rarer Manifestations

'Unfortunately there are many unans-wered questions regarding the precise causes of these complications and their relationship to Gauchers disease.

'A further important aim in monitoring patients is to make sure there are no adverse events from the enzyme therapy although fortunately this appears to be uncommon. Some patients do make antibodies to the enzyme but this does not seem to affect the effectiveness of the treatment.'

Future Challenges

Dr Mehta said that bone disease remains a problem for many sufferers of Gauchers disease. In addition there are other challenges to face:

Dr Mehta said he and Specialist Nurse Linda Richfield held regular meeting with the hospital administrators regarding patients. There is a need to update health authorities and the National Specialist Commissioning Advisory Group at the Dept of Health who fund the four Centres.


Dr Mehta summarised his talk asking and answering the following questions regarding monitoring:

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Source: Gauchers News March 2002.
© Copyright Gauchers Association 2002