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Understanding the APDS patient journey

As a recently identified primary immunodeficiency (2013), there is a universal lack of understanding of the complexity of a patient’s journey to diagnosis of activated PI3K delta syndrome (APDS).

Signs and symptoms of APDS can vary from patient-to-patient and even within a family. Although most individuals will present symptomatology during infancy, typically starting with recurring sinus infections and failure to thrive, these early childhood symptoms are often dismissed. As individuals with APDS grow older through adolescence, the clinical presentation of the condition can change. New symptoms often lead to referrals to multiple medical specialists and the road to diagnosis becomes increasingly complicated to navigate. 

For many individuals with APDS, their journey to diagnosis is long and physically and emotionally damaging. Early genetic testing may lead to a definitive diagnosis of APDS which can provide individuals with:

  • access to current, appropriate symptom management treatments,
  • referrals to APDS specialists who understand the disease,
  • opportunities to connect with others around the world with APDS through advocacy and support groups.

The infographic below explains the current APDS patient journey. It highlights the importance of helping patients and their families to receive early genetic testing to improve the diagnostic journey and quality of life if diagnosed with APDS.

Understanding the APDS 
patient’s journey to diagnosis
Understanding the APDS patient journey

This infographic was made by Pharming Healthcare, Inc., based on feedback from patients and caregivers during live interviews and advisory boards.

Activated PI3K delta syndrome (APDS) is a primary immunodeficiency (PI). It may also be referred to as a primary immunodeficiency disorder (PID), primary immune regulatory disorder (PIRD), an inborn error of immunity (IEI) and was previously known as PASLI disease.

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