Symptoms and diagnosis of PIDs
Symptoms of PIDs
While many types of primary immunodeficiency (PID) have been identified, the main types cause similar symptoms in those affected. Notably these symptoms are:
- repeated bouts of infections that can be long-lasting and severe.
However, it is now recognised that PIDs may present in other ways, including in people who may have non-infectious complications such as autoimmunity, inflammatory disorders with fevers, swollen joints, rashes and bowel problems, angioedema or sometimes even cancers, particularly lymphomas.
Another useful tool is called SPURR. Here PIDs should be suspected by families and doctors in people who have Severe, Persistent, Unusual, Recurrent infections and with a history of PID Running in the family (SPURR).
The ten warning signs of a PID
To date these have been promoted as a general screening tool for the general public and general practitioners to help improve diagnosis rates. Doctors involved in the care of UK patients are now
re-evaluating the usefulness of some of these criteria as a diagnostic screen. This is because of advances in the knowledge of PIDs and how they present at clinic. PID UK will post any new recommendations
when agreement has been reached.
The major indicators are:
- Failure of a baby or child to gain weight or grow normally (failure
to thrive) – there are many reasons for failing to thrive and PIDs are a rare but important cause
- The need for intravenous (IV) antibiotics to treat infections – the use of IV antibiotics indicates a serious infection and infants, children and adults should be considered for PID
- A history of a PID in the family – family members should at
least have a primary screen (full blood count and serum immunoglobulins)
- Four or more new ear infections within one year
- Two or more new sinus infections within one year
- Two or more months on at least two antibiotics at a stretch with little effect
- Two or more pneumonias within three years
- Having frequent deep skin or organ abscesses
- Persistent thrush or fungal infection (more than six months) on the skin or elsewhere
- Two or more deep-seated infections, including septicaemia (blood poisioning), within three years.
Two or more of these warning signs could indicate the presence of an
underlying PID. If you or your child have any of these symptoms, it’s
important to talk with your doctor. He or she might refer you to a
specialist, such as an immunologist.
The majority of PIDs in children are picked up by pediatricians and
it is estimated that three specific warning signs would identify about
90 per cent of PIDs. These are:
- family history
- a requirement for IV antibiotics in the management of infections
- failure to thrive.
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
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
- 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. If there is uncertainty about the location of services, your
doctor can consult the 'Find a clinical immunologist' facility in the
Resources section of the British Society for Immunology website. You
can find this here.
This page was reviewed by the Medical Advisory Panel, April 2013.