Monitoring and Testing Gauchers Disease
Gauchers News Contents
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
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 should include the following indicators that allow the
degree of Gauchers disease to be assessed:
- Ferritin level
- Vitamin D and other markers of bone
- Serum angiotensin converting enzyme and acid phosphatase
- Chitotriosidase: this is an enzyme which originates from the Gaucher
cells. It is extremely high in most patients but drops significantly during
treatment with enzyme replacement therapy. Normal scale is up to 150 but in
some patients with Gauchers disease it is as high as 30,000. Some individuals
are unable to make chitotriosidase at all because of a genetic change and about
one in five normal people are carriers of this genetic change and can only make
chitotriosidase half as well as normal. A technique has been developed at the
Royal Free Hospital whereby knowledge of this genetic change is used to improve
the accuracy of chitotriosidase measurement and patient assessment.
'Imaging different parts of the body and bones is valuable and should
- DEXA Scanning This is carried out in the Medical Physics
Department and uses a special camera to look at bone density in the spine and
typically also in the hips. It is widely used to assess risk of fracture in
osteoporosis but is also helpful in Gauchers disease
- Magnetic Resonance Imaging (MRI) This technique allows doctors
to accurately visualise the skeleton and demonstrates areas of damage. It is
also a good way to assess the bone marrow which is replaced to a variable
degree by Gaucher cells. MRI scans soft tissues and can be used to assess liver
and spleen size. By performing these scans over time and comparing them, a good
picture can be build up of the effectiveness of treatment.
- Xray and Computerised Tomographic (CT) Scanning are
older techniques which are nevertheless still useful.
- 'Disease in other organs is also recognised and this can
- Liver disease which can proceed to cirrhosis
- Lung complications which can cause shortness of breath, asthma and
- Cardiac changes including abnormalities of the valves
- Kidney changes including kidney failure
- Parkinson's disease-like symptoms
- Blood diseases which can rarely include cancers such as leukaemia,
lymphoma and myeloma
- Complications in pregnancy
'Unfortunately there are many unans-wered questions regarding the
precise causes of these complications and their relationship to Gauchers
'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.'
Dr Mehta said that bone disease remains a problem for many sufferers of
Gauchers disease. In addition there are other challenges to face:
- Co-ordination of funding to manage the advent of more patients so
that patients will not have to wait unnecessarily to begin treatment
- Development of diagnostic centres in the UK for rare diseases. There
is a need to retain expertise in similar diseases such as Gauchers disease and
other lysosomal disorders
- Development of a national programme so that Centres can work even
closer together and develop further guidelines
- Recruitment of young physicians to work in this field.
- Further the partnership between doctors and patients and their
- Quality control: Government must know what doctors are doing and
there must be a willingness to be open and to be inspected.
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:
- Who? Patients and carers
- By whom? Doctors and their team
- What? Condition, treatment and funding arrangements
- Why? To improve health and make treatment more effective
- How? By doing blood tests and imaging
- Where? In the hospital but increasingly over the
- When? Every six months.
Gauchers News Contents
Source: Gauchers News March 2002.
Gauchers Association 2002