Diagnosis of PIDs
In general the earlier the underlying diagnosis of a PID is made, the less damage will be done and, often, the easier it is to treat the disease successfully.
Doctors and nurses are often not familiar with the characteristic signs and symptoms of a PID and this can, in some cases, lead to significant diagnostic delay. On average this is still more than four years, though in some milder cases it may be almost a decade.
An accurate diagnosis of a PID may also be delayed because the primary symptom of the disorder, a series of infections, can easily be attributed to ‘ordinary’ illness, especially in children. Frequent infections are common among children, even those who would otherwise be classified as ‘healthy’.
For an adult patient showing signs of a PID, there are other factors in diagnosis delay. While severe cases of a PID are typically diagnosed in children, symptoms revealing milder forms often do not appear until later in life.
In addition, sometimes health professionals just don’t pick up on the pattern and frequency of infections, which is necessary to quickly make the proper diagnosis. For example, upper and lower respiratory tract infections are often attributed to something else.
Importance of family history
When a doctor does begin to suspect the possibility of a PID he or she will want to review your medical and family histories, looking for the patterns that would point to a diagnosis of a PID.
Then, the doctors will want to do simple blood tests, including a full blood count (FBC), and measure your immunoglobulin levels. If they still suspect a PID they will then use more sophisticated tests to diagnose the specific type of PID involved.
What can you do to help?
Ask the question of your doctor, particularly if you end up in hospital with a serious infection, auto-inflammatory disease or cancer – why have I or my family member developed this disease? Could I have an underlying immunodeficiency?
All too often modern medicine focuses on treating the immediate medical problem and getting you or your family member well again and back to your daily routine without thinking about an underlying problem.
The question ‘Why me?’ is typically forgotten. Increasingly, doctors are finding that in patients, particularly children and young adults, with serious or unusual infections, auto-inflammatory diseases and even in patients with some cancers, there may be an underlying genetic cause, which includes an immunodeficiency disease. Posing the question ‘Why me?’ will at least get your doctor to think of the possibility of an underlying primary immunodeficiency. And that is half the battle.
The next step might involve reassuring you that this is unlikely, or otherwise an enquiry to a specialist with training in this area, or just a simple blood test, but there is certainly no harm in considering this possibility.
Ask the question of your doctor – could another member of the family have the same PID?
Although most PIDs arise spontaneously, some are inherited from one or both parents. If one member of the family is already affected it is very important that the disease is considered in all other family members, particularly brothers and sisters. It is therefore your duty to raise the question with your doctor as to whether it is worth screening brothers and sisters or other family members. This particularly applies to newborn babies, to prevent them getting sick or dying unnecessarily.
More than anything else this is the most important thing you can do for your family to help with the timely diagnosis of a PID. Think about it; ask your general practitioner, your obstetrician, or your paediatrician, particularly when a baby is born.
Make your doctor and nurses aware of the tools available to help make a diagnosis of a PID.
Ask your doctor and nurses involved in your care to look at the diagnostic tool available on the UKPIN website www.ukpin.org.uk/home/ESID/index.htm. This tool has been specially designed to help non-specialist investigation of a potential PID.
Your doctor should be able to access specialist advice, when required, about investigation or referral through established local mechanisms.