D81.82
Activated Phosphoinositide 3-kinase Delta Syndrome [APDS]
Clinical Classification Guidelines
Inclusion Terms
- p110d-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI] disease
Code Also
- , if applicable, any associated manifestations, such as:
- bronchiectasis (J47.-)
- herpes virus infections (B00.-)
- other acute respiratory tract infections (J00-J06; J20-J22)
- other infections (A00-B99)
- pneumonia (J12-J18)
Medical Intelligence & Overview
Activated Phosphoinositide 3-kinase Delta Syndrome (APDS) is a rare genetic disorder characterized by immune system dysfunction. Caused by mutations affecting the PIK3CD gene, APDS leads to abnormal immune cell behavior, resulting in increased susceptibility to infections, lymphadenopathy (enlargement of the lymph nodes), and immune deficiency. The condition, also known as PASLI disease, impacts the body's ability to mount effective immune responses, often presenting in childhood but sometimes diagnosed later in life.
Causes & Symptoms
Clinical Causes: Genetic mutations in the PIK3CD gene that lead to a gain-of-function of the p110δ enzyme Inherited autosomal dominant pattern, meaning only one copy of the mutated gene can cause the disorder De novo mutations (new mutations not inherited from parents) have also been reported in some cases
Key Symptoms: Frequent bacterial, viral, and fungal infections due to immune deficiency Lymphadenopathy, especially swelling of the neck, armpits, and groin Splenomegaly (enlarged spleen) Recurrent respiratory infections such as pneumonia and sinusitis Herpes virus infections, including herpes zoster (shingles) Delayed growth and development in some children Laboratory findings such as increased levels of immunoglobulin M (IgM) and decreased immunoglobulin G (IgG) and A (IgA)
Diagnostic & Treatment
Diagnosis Path: Diagnosing APDS involves a combination of clinical evaluation, laboratory testing, and genetic analysis. Medical professionals typically consider a patient's history of recurrent infections, lymphadenopathy, and immune system abnormalities. Genetic testing for mutations in the PIK3CD gene confirms the diagnosis, while flow cytometry may reveal abnormal immune cell profiles. Additional immunological assessments help to evaluate the extent of immune deficiency and guide treatment planning.
Treatment Protocols: Management of APDS aims to control infections, reduce lymphadenopathy, and support immune function. Typical approaches include: - **Immunoglobulin replacement therapy** to bolster immune defenses - **Antimicrobial medications** for treating and preventing infections - **Targeted therapies** such as PI3Kδ inhibitors (e.g., leniolisib) that specifically block the overactive enzyme - **Immunosuppressive drugs** in cases of significant lymphoproliferation or autoimmune symptoms - **Regular monitoring** for complications like lymphoma or chronic infections Ongoing research continues to explore novel therapies, and treatment plans are tailored to each individual's specific clinical profile.
Clinical Advice & FAQs
Billing Guidance
Is D81.82 a billable ICD-10 code?
Yes, D81.82 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D81.82?
Clinical documentation must specify the nature of Activated Phosphoinositide 3-kinase Delta Syndrome [APDS] and any associated comorbidities for accurate reporting.
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