Primary Immunodeficiency Disease: Building a Treatment Plan
By Amy Darter, MD
For most people, a coworker’s sneeze or a child’s cough is harmless, but for those with primary immunodeficiency disease (PIDD), it could have a significant impact on their health.
PIDD is a group of nearly 300 disorders in which part of the immune system is missing or not functioning properly. People with PIDD may be more susceptible to illness – such as sinus infections, bronchitis or pneumonia—and may experience recurring infections. Sometimes these symptoms and conditions are mistaken for asthma or allergies.
The hardest part for many patients is the struggle to find an accurate diagnosis for their frequent infections. A 2007 Immune Deficiency Foundation survey reveals it takes on average 12.4 years from onset of symptoms to a PIDD diagnosis, meaning that many patients experience unresolved symptoms for more than a decade.
According to the Jeffrey Modell Foundation, six of the top 10 warning signs of PIDD in adults include:
- Two or more new ear infections within one year
- Two or more new sinus infections within one year, in the absence of allergy
- One case of pneumonia per year for more than one year
- Recurrent viral infections
- Recurrent need for intravenous antibiotics to clear infections
- A family history of PIDD
Physicians sometimes treat the infections at hand and may miss the underlying cause, which can leave patients susceptible over time to vital organ damage, physical disability or even death. Often, people with PIDD are diagnosed once they are referred to an immunologist who recognizes underlying conditions beyond the symptoms of common illnesses.
Once diagnosed with PIDD, people can manage the disease by working with their doctor to develop a treatment plan that works for them.
Recent treatment advances help prevent illnesses and infections in ways that meet the individual needs of patients. People with PIDD who have abnormally low or are unable to produce normal immune globulin (IG) levels, an antibody of human blood plasma, may benefit from IG replacement therapy to help the body ward off serious infections.
PIDD patients will likely need treatment for the remainder of their life, so it’s important to customize IG replacement therapy to best fit the individual’s routine and lifestyle. IG therapy is available in the form of an infusion, which can be administered intravenously (through a vein) or subcutaneously (under the skin).
When developing a treatment plan for PIDD, patients should work with their healthcare providers to determine what treatment schedule and administration option will work best for their needs, taking into consideration the demands of their family and work life, their preferences for infusion frequency (from daily to monthly), and self-infusing at home or with the help of a healthcare professional. If lifestyle discussion is not part of the physician/patient relationship, patients should start the conversation.
It’s important that PIDD patients feel they are not alone in managing the disease. Patient resources are available, from nonprofits such as the Immune Deficiency Foundation (PrimaryImmune.org) and Jeffrey Modell Foundation (JMFworld.org) to professional associations such as the American Academy of Allergy, Asthma & Immunology (AAAAI.org).
Drug and biotechnology companies also offer patient resources. Shire, which provides IG therapy options, offers patient support through its free MyIgSource program (MyIgSource.com). In addition to providing financial and insurance information, the program connects patients with nurse advocates for emotional support from diagnosis to treatment.
Amy Darter, MD, PC, CPI, FAAAAI is a board-certified immunologist and medical director and founder of the Oklahoma Institute of Allergy, Asthma & Immunology and the Oklahoma Institute of Allergy & Asthma Clinical Research, LLC in Oklahoma City.