Diagnosis: The Challenge
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CSL Behring Dialogue Participants: L-R: Chris Hughan, Dr. Richard Herriot and Dr. Hilary Longhurst |
EDDIE OWENS: A question in two parts for all of you. Is it common for both Hereditary Angioedema (HAE) and primary immunodeficiency disorders of the immune system (PID) patients to go for years without diagnosis, or with misdiagnosis and what changes have been put in place or could be put in place to encourage earlier diagnosis for these conditions?
CHRIS HUGHAN: We are covering a range of PID here as well as HAE so you cannot be too general about things. The primary immunodeficiencies are a group of genetically determined incurable conditions that affect the body’s immune system. A person who has one of these conditions has little or no natural defense against infections. He or she can experience a variety of problems, ranging from recurrent colds and other respiratory ailments to heart problems, pneumonia, skin disorders and arthritis.
The comparative rarity of these conditions means that some people remain undiagnosed for many years, resulting in organ damage and even disability.
Some more severe PID mean that children have a limited lifeline unless they get treatment, while Common Variable Immunodeficiency (CVID), will go on for years without being diagnosed. Obviously these delays can result in serious long-term damage so the earlier you can get to those patients the better.
The advent of the specialist clinical immunologist based in centres of excellence means that people can now be diagnosed; at one stage we did not even have that. The challenge in the U.K. and Europe is two-fold. First, it is the ability of primary care practitioners to recognize PID, especially as they see very few cases in their lifetime and second, it is the level of priority that health systems attach to PID. With over 80 different PID conditions, these are the challenges we face and have to resolve.
EDDIE: So what can be done to improve awareness and education amongst clinicians?
CHRIS: One of the things that we are looking at seriously is how infections, particularly recurrent infections, can act as a stimulus for the primary care practitioner to consider PID. They do audit their patients, so we are looking at the possibility of developing some software that will sit on the patient database, which will red flag recurrent infections and so on. This will give them the opportunity to look at PID as a possible diagnosis.
RICHARD HERRIOT: I agree. We are competing for the attention of general practitioners in the context of a vast range of other clinical and service pressures. Awareness is crucial along with availability of information in an accessible and easy-to-understand format. We know the most common problem that patients with PID have is antibody deficiency. So why is there not a system that says, “Recurrent infections!” and the alarm is triggered with three infections a year, perhaps a pneumonia, an ear infection and a skin infection and the action is to measure serum immunoglobulins.
CHRIS: It could work better if this went hand in hand with an advocacy program, which brings attention to government and health authorities.
RICHARD: I absolutely agree some sort of advocacy program combined with a fiscal payment for relevant activity would be a way forward. There is also the issue around the impact of guidelines. The 1995 guidelines were supposed to go to all primary care practitioners, but there is still a huge lack of awareness. This is not helped by the simple fact that the average primary care practitioner in the U.K. may see a PID about every 12–14 years. We must maximize the impact of the new 2007 edition of the guidelines—this will be an important opportunity.
HILARY LONGHURST: A message I would like to get across here is that there is not just the clinical value in treating these conditions but also a big economic value. It becomes cost-effective to diagnose early and initiate treatment.
RICHARD: There is some work at Birmingham University, which shows the cost-effectiveness of early diagnosis and institution of immunoglobulin therapy in PID patients.
Another important development would be the annual registration of PID patients. We certainly need accurate numbers of the number of patients being looked after by immunologists both pediatric and adult across all categories of PID and HAE as well.
Across Europe there is also the development of the ESID database, which will assist in this.
CHRIS: We also are producing health managers’ guidelines, which are aimed at raising awareness amongst this group.
RICHARD: Ideally, we should go for a three-pronged strategy; guidelines and emergency treatment protocols, advocacy and a patients’ register.
EDDIE: What is the difference in levels of understanding between HAE and PID?
HILARY: They are very different diseases. They are both immune deficiencies, but basically with HAE you can swell up and with PID you get infections. I would say probably there is more public understanding of PID through the ‘Jeans for Genes’ campaign and the visual examples of the baby in a bubble.
In HAE another challenge is to ensure greater knowledge amongst the medical profession. One important difference from PID is that people with HAE may not have frequent attacks and they are completely well between attacks. With PID if you have a significant antibody deficiency, you are really never 100 percent. I think perhaps people with HAE can disappear from the radar. They will go to the hospital or to their doctor a few times and then, if they do not get any satisfactory response, they will just lie at home with their abdominal attacks. It is quite common that specialists say to me, “We have
a family with this condition but they do not have much trouble with it.” And occasionally it has happened that these people have subsequently been referred to me. Actually, they are having a lot of problems, but they have not found it useful to access local medical care.
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Encouraging Patients to Positive Empowerment
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