Expert Centres

The Orphanet register contains information on Expert Centres in European member states for a wide variety of rare diseases.  This is an analysis of entries for alpha-1 antitrypsin deficiency.

Orphanet issue the following warnings:

  1. Data collection takes place in European and surrounding countries and is currently ongoing. Thus the database cannot be regarded as comprehensive. If a centre of expertise is not listed in a region or a country, it may not have been identified or the centre of expertise may have refused to be listed. It is also possible that a centre of expertise has not yet been set up for some rare diseases.
  2. By no means are these centres of expertise the only places where patients can be adequately diagnosed and treated. There are other places for expert advice when needed.

Alpha-1 Centres

Orphanet only records submissions from the national health services across Europe.  They do not have a mechanism to check the accuracy of the data.  Indeed some of the health systems may be so different as to make it difficult to combine data under the same heading – for instance children’s hospitals may treat up to different ages.  The label ‘designated’ is self-assigned by the national health services and so table B is probably more aspirational than objective.

Generally, the number of centres claiming to cater for children are greater than those for adults.  Looking at the individual centres it is clear that the sets are not disjoint, i.e. many centres are for both children and adults.  The children are usually treated for liver complications and adults are more likely to have respiratory problems.  Genetic counselling is also more likely to be available for parents with a child visiting a children’s hospital.

The names of the NHS hospitals and clinics which have registered with Orphanet as alpha-1 antitrypsin deficiency expert centres are: AATD Expert Centres UK.  The NHS appears to be using designation for those centres registered for NHS Specialised Services.  At the moment for AATD the only specialised service is that for the treatment of children’s liver conditions.

 

Table A – All Centres

Adult
Adult
Child
Child
Medical
management
Genetic
counselling
Medical
management
Genetic
counseling
Austria
3
5
5
6
Belgium
9
8
10
8
Denmark
1
2
1
2
France
27
83
35
97
Germany
59
147
63
148
Ireland
3
2
Italy
8
62
9
69
Netherlands
2
8
3
7
Norway
3
3
Portugal
3
10
5
10
Spain
11
34
10
34
Sweden
3
3
United Kingdom
4
22
6
22

Table B – Designated Centres

Adult
Adult
Child
Child
Medical
management
Genetic
counselling
Medical
management
Genetic
counselling
Austria
Belgium
8
8
9
8
Denmark
1
1
France
6
10
Germany
Ireland
2
2
Italy
8
2
7
2
Netherlands
Norway
Portugal
Spain
Sweden
United Kingdom
3