Following an informative and engaging #AAAAI2024, I had the pleasure to ask a few questions of two physicians who participated in an interactive presentation Pharming hosted entitled: Infections, Lymphadenopathy, & Atopy: Evaluating, Diagnosing and Managing Difficult Cases. Both experts have experience managing patients with activated PI3K delta syndrome (APDS), a rare primary immunodeficiency first characterized in 2013. 

Eveline Wu, MD, MSCR, is Division Chief of Pediatric Rheumatology and an Allergist/Immunologist at UNC Health, and Nicholas Hartog, MD, FAAAAI, FACAAI, is a specialist in allergy and immunology at Helen DeVos Children's Hospital Allergy and Immunology. Read on to learn more about their dedication to sharing knowledge with peers at events like AAAAI, and how to help elevate diagnosis and treatment for diseases like APDS. 

What challenges do you face in diagnosing a rare genetic disease like activated PI3K delta syndrome (APDS)? 
Dr. Wu: One of the major challenges is getting patients to undergo early genetic testing. Providers may not have access to genetic counseling, and it can be costly if it is not covered by insurance. Some patients also experience hesitation or fear about genetic testing.

Dr. Hartog: There are many challenges in diagnosing a rare disease, such as knowing the most common way these patients present, knowing exactly which patients to test once we get them in the clinic, and making a broad differential diagnosis for APDS, which can present the same way as other genetic diseases.

What impact does early genetic testing and family mapping have for the diagnosis and treatment of patients with APDS? 
Dr. Wu: Early genetic testing can have a large impact on a patient’s care. Confirming a genetic cause can identify an opportunity to provide targeted treatment, inform surveillance for disease complications, and guide family planning, among other aspects of care. 

Dr. Hartog: One of the most important takeaways about APDS is to embrace genetic testing as a part of the immunologic workup, because early genetic testing can have a significant impact. The goal of early identification is to initiate treatment prior to some manifestations of APDS and take a proactive role in monitoring for potential complications. It also allows us to test the family and identify family members with the disease who may have been missed previously because their presentation was atypical or because no one thought of this underlying disease in the past. Clinicians should start by testing siblings and parents and then continue through the family to grandparents, aunts, uncles and cousins until a patient either refuses the testing or has negative findings. This is known as family mapping and while the process can be challenging, it is critical for an autosomal dominant disease such as APDS. 

Why do you feel it is important to participate in knowledge-sharing opportunities?
Dr. Wu: Knowledge sharing allows providers to learn more about diagnosing and managing rare conditions, as well as the resources that are available to both providers and patients.

Dr. Hartog: Knowledge sharing is one of the most important ways to help others diagnose rare diseases like APDS. We raise awareness of the possibility that a patient may have the disease, increase understanding of the disease, and discuss the multiple ways that it can present.

What advice do you have for physicians who are interested in learning more about APDS following the AAAAI symposium? 
Dr. Wu: I recommend going to the All About APDS website, where physicians can learn more and connect with providers who are familiar with diagnosing and managing APDS.

Dr. Hartog: One piece of advice is to embrace genetic testing as a part of your immunologic workup. 

With APDS first characterized just over 10 years ago, what is your hope for patients living with APDS in the next 10 years? 
Dr. Wu: I think it is remarkable that within 10 years of APDS first being characterized, there is hope for patients living with APDS to have longer, healthier, and more fulfilling lives!

What is the most common piece of feedback or question you received from your peers following the presentation?
Dr. Wu: My peers are most curious to learn more about my personal experience with identifying, caring for, and treating patients with APDS. 

Dr. Hartog: The most common theme is the need for more awareness in how to recognize and diagnose these rare diseases. Opportunities like this do go a long way toward educating physicians on the presentation on these rare diseases. In addition, education on how to interpret genetic testing results needs to be ongoing.

APD-GLO-2024-0020