Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys.
WHY IT MATTERS
Patients with APDS face years of diagnostic delay due to the disease's rarity and variable symptoms — understanding these barriers could help doctors recognize APDS faster and reduce the time families spend seeking answers.
This study looked at how long it takes to diagnose APDS, a very rare immune system disorder that affects only 1-2 people per million. Researchers interviewed patients and doctors in Austria, Germany, and Switzerland and found that people typically wait several years before getting a correct diagnosis because the disease is so uncommon and looks different in different people.
Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys. Abstract: Activated phosphoinositide 3-kinase delta syndrome (APDS) is an inborn error of immunity first described in 2013. With an estimated prevalence of 1-2 per 1,000,000 individuals, it is considered an ultra-rare disease. The aim of this survey was to explore the diagnostic and therapeutic challenges of patients with APDS from the patients` and physicians` perspective in Austria, Germany, and Switzerland. A qualitative case study approach was applied. Semi-structured interviews were conducted with six patients or legal guardians of children with APDS, and four clinical immunologists with direct experience in APDS care. Transcripts were analyzed using inductive content analysis. The interviews revealed a median diagnostic delay of several years, mainly due to the rarity and phenotypic heterogene Authors: Wolf et al. Journal: Frontiers in immunology MeSH: Humans, Female, Male, Primary Immunodeficiency Diseases, Class I Phosphatidylinositol 3-Kinases, Child, Rare Diseases, Child, Preschool, Surveys and Questionnaires, Delayed Diagnosis
ASK YOUR DOCTOR
If you or your child have recurrent infections and a history of delayed diagnosis, ask your immunologist about APDS and whether genetic testing for PI3K mutations should be considered.