Q&A: Video series educates physicians about primary immunodeficiencies

Key takeaways:

• More than 14 million people aged younger than 65 years have compromised immune systems.
• Delays in diagnosis impact quality of life.
• Video topics include screenings, symptoms, diagnosis and comorbidities.

Patients with primary immunodeficiencies experience an average of 9 to 15 years between the onset of their symptoms to diagnosis of their disorder and treatment that could save their lives, according to the Immune Deficiency Foundation.

Early diagnosis is critical to improved outcomes, but the rarities of these make recognition challenging. To help educate physicians, the Immune Deficiency Foundation (IDF) collaborated with Project ECHO at Penn State College of Medicine to produce a 10-episode webinar series that is now available to view for free online.

Topics include immune system basics, signs and symptoms, steps in diagnosis, antibody deficiencies, treatment options, newborn screening, comorbidities, teamwork, and social determinants of health.

IDF also reports that 78% of providers who attended these webinars agreed that they increased their capacity to treat patients with primary immunodeficiencies.

Healio spoke with Colleen Brock, BSN, RN, manager of medical programs at IDF, and Laura Felix, project manager at Penn State Project ECHO, to find out more.

Healio: How common are primary immunodeficiencies?

Colleen Brock

Brock: There are more than 450 types of primary immunodeficiencies (PIs). They are also known as inborn errors of immunity. Some types of PIs are very rare, while others are more common. According to the NIH, there are approximately 500,000 individuals in the U.S. with a PI. However, experts think that up to 90% of people with PI are not diagnosed.

Healio: What are some of the most common primary immunodeficiencies?

Brock: deficiencies are the most common type of PI. Some of these are common variable immunodeficiency, X-linked agammaglobulinemia, selective IgA deficiency and . Severe combined immune deficiency is one PI that is tested via newborn screening and is 100% fatal without . However, it is very rare, with approximately 76 children diagnosed in the U.S. per year.

Healio: Why is diagnosis so challenging?

Brock: A person with PI can have a variety of symptoms or issues such as frequent infections, overly severe or unusual infections and/or various autoimmune conditions. The challenge is to have clinicians consider an underlying immune problem if their patient is presenting with unusual or rare issues instead of just treating and releasing them. This does not happen often enough.

Healio: What are the impacts of delayed diagnoses?

Brock: The sooner a person is diagnosed, their chance of having a better quality of life increases. For instance, a person who has numerous lung infections may develop lifelong lung because of their numerous infections, whereas if they are diagnosed and treated sooner rather than later, this might be prevented.

Healio: What is Project ECHO, and why was it founded?

Felix: Project ECHO (Extension for Community Healthcare Outcomes) was founded in 2001 by Sanjeev Arora, MD, MACP, FACG, a liver disease specialist in New Mexico. Dr. Arora treated hepatitis C patients but was frustrated because many hep C patients were dying because of long waiting lists or lived in extremely rural communities with no ability to travel to a specialist. He started ECHO at University of New Mexico to empower PCPs in areas of specialty care so that they could treat patients in their own communities rather than have patients suffer due to lack of access to specialty care.

The ECHO model utilizes technology to connect expert specialists and participants. Structured similarly to how medical residents are taught, ECHO sessions include a short didactic presentation, but the majority of the sessions are used to discuss a de-identified patient case where everyone (specialists and participants) can teach and learn from each other. This model has grown in the past 20 years and has expanded all over the world. Other institutions can start their own ECHO hubs and launch their own programs while following the ECHO model.

Penn State College of Medicine became an ECHO hub in 2018 led by Jennifer Kraschnewski, MD, MPH, running more than 75 ECHO programs and providing education for thousands of participants in the last 6 years. Recently, Penn State became a “superhub,” which is an ECHO hub that trains other institutions looking to launch their own ECHO programs.

Healio: Who is the audience for Project ECHO?

Felix: Generally, the audience for ECHO is physicians, advanced practice providers and other health care professionals. However, the tenets of the ECHO model can apply to education in general and can be applied to many other audiences and topics.

For instance, during our collaboration with IDF, we ran two separate ECHO programs. One was designed to educate health care professionals on identifying, diagnosing and treating PIs. The other program was for members of the community that weren’t necessarily clinical staff: school staff, counselors, case managers, patient navigators and even patients/family members. Both programs’ audiences and topics were quite different, but we consider those programs to be extremely successful and a powerful example of the versatility of the ECHO model.

Healio: What kind of feedback have you gotten from physicians who attended the webinars?

Felix: We evaluate participants after each session, and our PI programming has been well received by physicians and other health care professionals:

• 93% of participants agreed that their knowledge increased as a result of participating in ECHO.
• 81% reported an improved ability to provide care.
• 66% planned to make changes in their practice.
• 70% felt a decreased sense of isolation.

Exemplar quotes include:

• “I have an allergy and immunology clinic in Dubai and Pakistan and I feel this will greatly help manage my patients.”
• “Enjoying the detailed information that is so hard to find in a consolidated, organized presentation as this! Thanks for doing this program.”
• “I am a patient with PI and a health care provider. The Project ECHO class was very informative and well done.”

Healio: What is next for Project ECHO?

Felix: Project ECHO at Penn State has a very exciting year planned — we currently have programs scheduled to address rural health disparities, neurodiverse populations, environmental determinants of health, and maternal health, just to name a few. Here are some links you may find helpful as well:

• Project ECHO at Penn State website;
• University of New Mexico ECHO website;
• PI Clinical ECHO playlist; and
• PI Community ECHO playlist.

For more information:

Colleen Brock, BSN, RN, can be reached at cbrock@primaryimmune.org. Laura Felix can be reached at lfelix1@pennstatehealth.psu.edu.