Based on national estimates, approximately 65,000 Pennsylvania residents are living with primary immunodeficiency (PI). Thousands more are undiagnosed and needlessly struggling with potentially life-threatening symptoms, including recurrent, persistent, and severe infections.
April 22-29 is World PI Week, a time to raise awareness of these rare diseases and help get people who are impacted by PI the diagnosis, treatment, and resources they need.
1. Primary immunodeficiency (PI) is not just one disease.
Primary immunodeficiencies (PIs), also known as inborn errors of immunity (IEI), are a group of more than 450 rare, chronic conditions in which part of the body’s immune system is missing or does not function correctly.
According to the National Institutes of Health, there are approximately 500,000 individuals in the U.S. with a PI. These conditions are caused by hereditary genetic variants and can affect anyone, regardless of age, gender, or ethnicity. PI can cause infection, malignancy (cancer), allergy, autoimmunity, autoinflammation, or any simultaneous combination of these issues.
PI conditions are caused by genetic variants and can affect anyone, regardless of age, gender, or ethnicity. Some PI disorders cause symptoms in infancy or early childhood, but others may not present until mid- or even older adulthood.
2. Even with treatment, most PI diagnoses do not have a cure.
Fortunately, with proper medical care, many people with PI live full and independent lives.
While each form of PI is different, they all disrupt the body’s immune system and reduce the body’s ability to protect against infection. This could mean a common cold or other infection could become a major health issue for someone with PI. Sinus infections or recurrent, lung, skin or other infections are often key warning signs of PI.
3. It can take decades to get diagnosed.
PI is rare and often missed as a diagnosis by primary care physicians. The average time between the onset of symptoms and diagnosis is nine to 15 years, and experts believe that more than 70% of people with PI remain undiagnosed. Most people with PI receive a diagnosis at age 18 or older.
The diagnostic process for PI may include a review of medical and family history, physical exam, laboratory bloodwork to examine immune system functions, skin tests, and DNA sequencing, which examines genetic causes for disorders.
4. We learn more about PI every day.
The good news is there are efforts being made to shorten the time to diagnosis through educational campaigns targeting the general public as well as medical professionals.
The Immune Deficiency Foundation, the national patient organization for PI, helps people achieve an early and accurate diagnosis, appropriate treatment, and an improved quality of life.
To learn more about PI during World PI Week (or anytime!), visit www.primaryimmune.org.
-HMPA-