Guest Blog: Tracy Siler, Senior Rx Coordinator at BioPlus Specialty Pharmacy
Now is the perfect time to think about the immune system: not only is April National Primary Immunodeficiency Awareness Month but this week (April 22-29) is also World PI Week, both of which have the goal of earlier diagnoses and optimal treatment for these immune conditions.
Primary immunodeficiency disorders (PIDD) affect as many as 250,000 people in the United States, while thousands more go undiagnosed (but suffering nonetheless) with this uncommon genetic condition. With PIDD, part of the body’s immune system doesn’t function properly or is missing altogether. This results in severe, persistent, unusual, or recurrent infections. Severe combined immunodeficiency (SCID) and ataxia-telangectasia both fall under the umbrella of PIDD.
Diagnosis of PIDD includes a thorough patient history, as well as a physical exam and blood and immunoglobulin level tests. PIDD should be suspected in a patient who experiences two or more of the following:
- 4+ ear infections within one year
- 2+ serious sinus infections within one year
- 2+ months on antibiotics without resolving an infection
- 2+ pneumonias within one year
- Recurrent abscesses
- Persistent thrush
- Family history of genetic immune dysfunction
- Failure to thrive in an infant
The most common treatment for PIDD is IgG therapy. IgG (immunoglobulin G) provides antibodies that are missing in those with PIDD. IgG therapy is needed on an on-going basis for patients to decrease the number and severity of infections.
3 PIDD Profiles
Diagnosis of PIDD occurs in childhood 60 percent of the time, leaving the remaining 40 percent diagnosed in adults. Earlier diagnosis improves survival rates. Consider these three composite patient stories of PIDD:
- A 13-month old girl with a history of recurrent thrush and failure to thrive who has also been hospitalized several times with pneumonia. After arriving to the emergency department with a high fever and rash, a blood test reveals a complete absence of several immune system cells (CD4, CD8, CD19, and CD56). Severe combined immunodeficiency disease (SCID) is diagnosed.
- A teen girl with a history of recurrent sinusitis, diarrhea, and sinus surgeries is tested by her family doctor for an immune disorder. Her IgA levels are low and she is diagnosed with selective IgA deficiency.
- A woman in her 50s goes to an allergist after experiencing recurrent sinus infections and multiple courses of antibiotics. Skin testing reveals no sensitivities; however, the lab work shows that her IgG is far below normal range. She is diagnosed with common variable immunodeficiency (CVID).
Primary Immunodeficiency Disorders
250,000: Americans diagnosed with PIDD
185: Different conditions under the umbrella of PIDD
20: Conditions accounting for the majority of PIDD cases
70: Percentage of PIDD patients treated with IgG therapy
60: Percentage diagnosed in childhoodSources: The Immune Deficiency Foundation The Jeffrey Modell Foundation Symington S. Primary Immunodeficiencies: Recognition and screening strategies. Advances for NPs and PAs 2013 http://nurse-practitioners-and-physician-assistants.advanceweb.com/Continuing-Education/CE-Articles/Primary-Immunodeficiencies.aspx