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EurordisCare 2: Survey of the delay in diagnosis for 8 rare diseases in Europe

Rare diseases are still poorly known both by the general public and by most health professionals. This lack of information often leads to late diagnoses which delay the beginning of adapted treatments and can be responsible for the disease’s progression or produce severe consequences. While rare disease patients often face this delay in diagnosis, it remains badly documented and its consequences are insufficiently taken into account by the health authorities.

In collaboration with 67 European rare disease organisations, Eurordis conducted a survey to study the delay in diagnosis for 8 rare diseases in European countries.

-   Crohn’s disease
-   Cystic fibrosis
-   Duchenne muscular dystrophy
-   Ehlers-Danlos syndrome
-   Marfan syndrome
-   Prader Willi syndrome
-   Tuberous sclerosis
-   Fragile X syndrome

Map of Europe showing responses by disease and country  - 25.4 kb

The objective of the study was to identify the main causes of delay in diagnosis and to find solutions to reduce this delay by appropriate measures such as medical training, raising public awareness, systematic screening, etc. Delay in diagnosis can vary greatly depending on the disease, and on the country, as well as on individual factors: each patient has his or her own history.

The survey was part of a long-term study, in conjunction with the first EurordisCare survey of access to care for six rare diseases, in which 50 patient organisations participated. The ultimate project goals are to set up standards and guidelines for the management of rare diseases throughout Europe, and to ensure that patients have access to appropriate care in European countries.

F. Faurisson, Eurordis, EurordisCare2  - 14.8 kbBeginning in March 2004, 18 000 questionnaires, translated into 12 languages, were mailed to participating rare disease organisations in 17 countries. Each organisation then distributed the questionnaire to individual rare disease patients or to their families.

The questionnaire solicited information from each patient concerning his or her experience with diagnosis, through questions such as: "Was the diagnosis already known at birth, or within the first 3 months?" "How many doctors did you consult between the first manifestations and the final diagnosis?" and "Was the announcement of the diagnosis accompanied by psychological support?"

Eurordis received 5 980 completed questionnaires.

The findings of the EurordisCare 2 survey

Obtaining the right diagnosis is only the first hurdle that patients (and their families) need to take. The high-level findings of the EurordisCare 2 survey are the following:

25% of patients had to wait between 5 and 30 years from early symptoms to confirmatory diagnosis of their disease;

Before receiving a confirmatory diagnosis, 40% of patients first received an erroneous diagnosis, others received none;
This was the case for:
-  25% of patients suffering from Marfan syndrome;
-  50% of patients suffering from Ehlers Danlos disease.
and for:
-  33% of patients in Finland, Spain, United Kingdom and Ireland;
-  50% of patients in Austria, Denmark, Germany, Romania, Sweden and Poland.

This led to medical interventions that were not based on a correct diagnosis, such as:
-  surgery for 16% of patients;
-  medicinal treatment for 33% of patients;
-  psychological care for 10% of patients.

Patient mobility: 25% of patients had to travel to a different region to obtain the confirmatory diagnosis, and 2% had to travel to a different country;

The diagnosis was announced in unsatisfactory terms or conditions in 33% of cases, and in unacceptable ones in 12.5% of cases;

The genetic nature of the disease was not communicated to the patient or family in 25% of cases. This is paradoxical, given the genetic origin of 80% of rare diseases.

There was genetic counselling in only 50% of cases:
-  In only 40% of cases, an effort was made to discuss the diagnosis and the genetic risk;
-  On the other hand, 80% of patients or their parents spontaneously engaged in a debate with the family to help diagnose or prevent other cases; when this happened, it helped diagnose other family members in 30% of cases (10% affected, 20% healthy carriers).


-  The results of the survey highlight the dilemma of rare diseases: lack of information, lack of appropriate medical training, difficulties in accessing care, and as a result, loss of confidence of patients in the health care system and the medical profession.
-  Detailed results, extended national data and an analysis of explanatory factors were presented during the European Conference on Rare Diseases, ECRD 2005, in Luxembourg, 21 June 2005.
-  Solutions exist and were debated during the conference: reference centres, data bases for exchange of information, DNA and tissues banks, networks of professionals etc.
-  A coordinated European policy for rare diseases is urgently needed.

Each association participating in the study was sent its own results.

Eurordis thanks all the rare disease associations and patients who participated in this survey.

For more information on the EurordisCare Survey Programme, contact:
François Faurisson, Clinical Research Advisor
Tel: +33 1 56 53 52 60

The EurordisCare survey program is supported by

Actelion logo OTL logo Groupe Initiatives Mutuelles logo
Actelion OTL Pharma Groupe Initiatives Mutuelles

Author: François Faurisson, M.D.
Editors: Jerome Parisse-Brassens & Julia Fitzgerald