Question: You have recently published a medical paper called ‘PIDs for GPs – making a difference in diagnosing severe illness’. As PIDs are rare conditions why is it so important for GPs to become aware of them?
Answer: PIDs are not that rare. New estimates indicate that there are about 1:1200 patients. This means that all GPs will come across with, at least, 1 or 2 cases in their practice. Furthermore, PIDs are diseases that can be treated and if they are diagnosed in due time, the treatment enables these patients to live a normal or close to normal life. Early treatment is very important to avoid organ damage related to consequences of the PID.
Q: What are the clinical signs GPs need to be more attentive about?
A: As GPs we are educated to look for patterns of different diseases. This is a challenge as only some PIDs have specific characteristics while other PIDs’ symptoms vary over time and from one patient to another due to variability of the expression of the defect genes and to individual and epigenetic factors as well as environmental factors. But there are certain signs that are crucial. First, the family doctor should check if there is a family history of PID and second, if there is a tendency of infections in the medical history of the patient. PID very often runs in families even if the presentations are different. Infections can be bacterial, viral of fungal. They can be due to rare microorganisms and present as opportunistic infections. They can be long standing infections that need longer treatment than usual. Inflammatory and autoimmune disorders can also be a presentation of PID especially when the conventional treatment fails. Allergies and cancer are seen more frequent in the group of PID patients.
The most severe PIDs will be diagnosed in early childhood, but many patients present symptoms when they become adults. This means that GPs must be attentive of all age groups and sometimes look many years to find a pattern.
Q: It is possible to diagnose and treat a PID patient without genetic testing?
A: It is possible to diagnose some PIDs with a simple blood test. Measuring the bone marrow function and the antibody levels as well as the vaccination responses is of great value and will catch a large group of PIDs. But even when test results are normal, the medical history can make you suspect of a PID, and they should be referred to a specialist. Further diagnose and treatment options are taken care of by specialists such as immunologists or infections’ specialists. Further tests often need to be done. The immune response can be tested in the lab and genetic testing is used more and more and might be the golden standard for all patients in a few years.
Q: As you are a GP, what would be your first recommendation for a colleague who has just started taking care of a PID patient?
A: I believe that the medical treatment should be decided and taken care of by the specialist with knowledge and experience within PIDs but there are certainly other things the GP can take care of. Knowledge about PIDs can help with further explanation of the condition and its consequences. He/she can be supportive in psychological aspects, such as, referral to psychologist and be supportive about the situation in the family (siblings, grandparents, wife/husband). He/she can help in facilitating information, with the access to the clinic or at home visits when needed. Supporting other members of the family, like the siblings for example, can be very helpful as a significant chronic illness will have consequences for all members of the family.