Abstract Ref No. 40
The Impact of Diagnosis Delays in Primary
A poster jointly submitted by the key organisations representing the EU and International PID nurse, patient and physician
community: The European Society for Immunodeficiencies (ESID), The International Nurses Group for Immunodeficiencies
(INGID), The International Patient Organisation for Immunodeficiencies (IPOPI), the European Federation of Immunological
Societies (EFIS) and The Jeffrey Modell Foundation (JMF).
“We call upon the European Commission DG Consumer Health & Protection,
to urgently take action to ensure that PIDs are named as a priority for action
in rare diseases within the EU’s Public Health Programme”.
Antonios Trakatellis MEP, Philip Whitehead MEP, John Bowis MEP, Caroline Jackson MEP, Cecilia Malmström MEP, Godelieve
Quisthoudt-Rowohl MEP, Peter Liese MEP, Stephen Hughes MEP, Catherine Stihler MEP, Chris Davies MEP. May 2004.
INTRODUCTION THE ISSUE
• Primary Immunodeficiencies (PIDs) are a group of more than 100 diseases of the immune • Treatment in the form of bone marrow transplantation and antibody replacement therapies The core issue facing PIDs is one of chronic underdiagnosis which leads to:
system. (immunoglobulins) are available to treat PIDs. The latter have a long history of proven • Long term physical damage among sufferers
• They are genetic conditions that range in severity and bare the clinical hallmarks of efficacy in reducing infection, leading to reductions in subsequent illness and hospital • Detrimental impact on a sufferer’s quality of life
persistent, recurring infections. admissions. • Increased use of healthcare resources
• Delayed diagnosis and insufficient treatment leads to increased morbidity, mortality, and • As a disease group, PIDs are classified as rare diseases, with an estimated EU prevalence
inflated medical costs - not to mention a life of chronic illness, permanent organ damage, of 1:10,000.
disability or even death. • However experts have stated that up to 70-90% of PIDs remain undiagnosed, with real
• PIDs can appear at any age and know no racial or ethnic boundaries. Symptoms are often prevalence rates of some PIDs estimated as high as 1:500.1
overlooked because they appear to be common childhood illnesses - sinus and ear
infections, pneumonia, fever and bronchitis. Physicians often treat ailments without
Prof L Hammarström, Presentation to Scientific & Technical Options Assessment Unit (STOA) of the European
Parliament “Prevalence of PIDs in the EU” March 2004.
BENEFITS OF EARLY DIAGNOSIS
addressing the underlying cause.
• A simple and inexpensive blood test can identify over 95% of PI diseases.
• PIDs range in severity from complete lack of immune effector cells and severe antibody
deficiency at one end of the spectrum to partial antibody deficiency at the other.
• Whichever the severity of the PID, evidence and literature shows that early diagnosis can
have a positive impact on the health and quality of life of the sufferer, as well as healthcare
EVIDENCE OF HEALTH & HEALTHCARE INITIATIVES UNDERTAKEN TO RAISE
RESOURCE BENEFITS DIAGNOSIS LEVELS
In a recent study2, two case histories can be cited as examples how even late diagnosis The Jeffrey Modell Foundation (JMF) have pioneered public/private awareness and education
can lead to health benefit and alleviation of healthcare resource use. initiatives for PIDs in the US and are working with the PID community in Europe to encourage
• A 58 year old male was recorded to need 41 days treatment and 8 hospital visits due to similar schemes in the EU. This has recently included the European Day of Immunology
infections leading to COPD, bronchitis, pneumonia and sepsis over 18 months between (http://www.dayofimmunology.org/).
2000-2001. Once diagnosed with an immune deficiency in 2001 and treated, treatment
days were reduced to 16, with 5 hospital visits and no hospitalisations over the following Core JMF awareness campaign elements include:
18 months. • Baseline survey
• A 70 year old female PID sufferer was recorded to have had 166 days treatment, with • 10 Warning Signs Poster
18 hospital visits over 18 months between 1997 and 1998. After diagnosis, treatment • Physician Algorithm
lead to a 500% decrease in treatment days over the following 18 month period and over • Acquisition of target mailing lists
300% decrease in the number of hospital visits. • “What you need to know” brochure
Olinder-Nielsen AM, Forsberg P, Granert C, Vietorisz A, Björkander J, Ig prophylaxis in 350 adults with IgG subclass • Coordination with local patient organisations
deficiency and recurrent respiratory tract infections; 2000 patient-years. • Educational symposia for clinicians
• Television, radio & print materials
KEY CONCLUSIONS • Website enhancement and links
• CD Rom for New Patients
• About 70% of patients with antibody deficiencies respond well to treatment with antibody • School nurse poster
replacement therapy (immunoglobulins) with decreased number of infections and increased
• Undiagnosed and untreated PID patients need greater use of hospital services.
THE SUCCESS OF THE JMF AWARENESS
& EDUCATION PROGRAMME
EVIDENCE OF QUALITY OF LIFE BENEFITS • Between June 2003 and February 2004, the JMF media campaign reached 129,754,760
households which lead to an increase of monthly hits on the JMF web site reaching
565,527 and a monthly increase of 488 calls to their hotline.
Numerous studies (detailed in table below) have consistently shown that diagnosis and
treatment leads to improved quality of life for PID sufferers of all ages.
Year Authors Journal Patients
1993 Gardulf, Björvell, Clin Exp Immunol Adults (18-66 years) JMF SPECIALIST DIAGNOSTIC CENTRES
• The JMF have pioneered the establishment of a global network of specialist PID diagnostic
1995 Gardulf, Björvell, J Adv Nurs Adults (18-76 years) centres which have been instrumental in improving diagnosis and treatment for sufferers
Andersen, Bjorkander, Denmark, Norway, of PIDs. US centres are public/private partnerships, and European specialist diagnostic
Ericson, Frøland et al Sweden centres are now established in Germany, France and Sweden. EU PID specialists are now
2003 Höybråten Sigstad PhD-thesis, Oslo Adults (23-76 years) looking for greater involvement of public health bodies to broaden this network across
University, Norway Norway the EU.
2004 Gardulf, Nicolay J Allergy Clin Immunol Children (3-13 years)
Asensio, Bernatowska Adults (14-74 years)
Böck, Costa-Carvalho et al Europe
Gardulf, Björvell, Gustafson et al. Clin Exp Immunol 1993;92:200-4 CONCLUSIONS
The EU PID community, represented by the
The most recent of these studies clearly demonstrate that adults with PIDs have a worse
Quality of Life (QoL) as compared to healthy individuals (the higher the Sickness Impact organisations presenting this poster, are working
(SIP) score, the worse the QoL) and those with a PID have a better QoL once treatment has • “Primary Immunodeficiencies are a serious public to encourage co-operation with EU and national
started. health concern and (we) recommend a scientific health policy makers for recognition of PIDs as a
PI Adults Before IgG treatment framework to advance physician education and
European public health issue in order to alleviate
Healthy SCIG treatment 18 months public awareness of PIDs”
US Centre for Disease Control 2001 the problem of chronic under diagnosis.
• At the European Parliament, a hearing on PIDs held
10 10 by the Parliament’s Scientific and Technological
Assessment Unit (STOA) concluded that PIDs should
be prioritised within the EU’s Public Health
Programme. March, 2004
More recently QoL among adults and children with PIDs has been shown to improve with
the growing use of Home Therapy. Home therapy has also been shown to have cost benefits • A resolution signed by cross party and pan European
as well.4 QoL related patient feedback in a recent study5 included:
• “I can travel without any problems. Now I feel I can contribute to my own well-being, Members of the European Parliament called for the
I am no longer just a ’patient’ or a ’case’.” (Woman , aged 27) prioritization of PIDs within the EU’s Public Health
• “You feel less sick when you don’t have to visit the hospital so often. Freedom!”
(Man, aged 29) Programme. May, 2004
• “I find the home treatment outstanding. Now I live a normal life and I don’t feel disabled
any longer. It makes me so happy.” (Woman , aged 51)
• “Home treatment gives me the opportunity to live like a ’normal’ human being. If anyone • The JMF success has lead the US Congress to cite
feels disabled by their antibody deficiency, home treatment reduces this feeling to a
minimum.” (Man, aged 62) them as: “a model of public-private cooperation
Gardulf, Möller, Jonsson Int. J. of Technology Assessment in Health Care 1995;11:345-53 which should include an International component.
Gardulf, Björvell, Andersen, Björkander et al.J Adv Nurs 1995;21:917-27
The Committee has included $2,200,000 to continue
KEY CONCLUSIONS this campaign, which has great importance to public
• After treatment, the Sickness Impact (SIP) score for sufferers is shown to improve health.” September, 2004
• Home therapy leads to improvements in a patient’s feeling of independence, freedom,
flexibility, sense of feeling less sick/disabled and results in less time spent away from IPOPI: http://www.ipopi.org - ESID: http://www.esid.org - JMF: http://www.jmfworld.com
school and work. INGID: http://www.ingid.org - EFIS: http://www.efis.org