Discovery of primary immunodeficiencies (PIDs) has rapidly increased, from 180 known PIDs in 2012 to more than 450 today. Patient perspectives are essential to deepen understanding of these conditions and, in turn, improve health outcomes. Patient advisory meetings provided insights into experiences with activated PI3K delta syndrome (APDS), a PID named in 2013.
A virtual advisory board meeting was conducted with 7 patients living with APDS in 2024. Participants also reviewed a patient journey illustration and handout. The meeting included polls and a chatroom.
Participants reported symptoms not commonly reported in published literature, including fatigue, brain fog, joint and diffuse pain, temperature sensitivity, headaches, and dental issues. Apart from headache and dental issues, these symptoms were also reported in a 2023 patient advisory meeting by a separate cohort of 7 people living with APDS.
Participants’ disease understanding was limited, with low awareness of common symptoms and signs of APDS, including autoimmune or autoinflammatory conditions, frequent and severe diarrhea, and developmental and cognitive delays. Participants were asked to confirm the year of their diagnosis twice, and several provided different years; more than half were unsure which APDS genetic variant they have.
Participants expressed challenges with physicians understanding APDS, believing their symptoms, and coordination of care. For example, 5 of 7 participants experienced diarrhea, which was misdiagnosed or overlooked in all but one. Participants have up to 10 physicians for their APDS-related conditions and take many medications.
Fatigue, brain fog, and pain impact quality of life. All participants experienced frequent fatigue, daily for more than half. Brain fog impacts most participants a few times each week, and many live with daily pain. Three participants are unable to work.
More patient-friendly APDS education resources are needed. Additional research is suggested to confirm the prevalence of newly identified symptoms in those living with APDS. Research is also suggested to explore challenges in disease understanding, specifically analyzing the impacts of brain fog, developmental delays, socioeconomic impacts, or potential variance in the expression of APDS based on genetic variants.
