Activated Phosphoinositide 3-kinase Delta Syndrome [APDS]
ICD-10 D81.82 is a billable code used to indicate a diagnosis of activated phosphoinositide 3-kinase delta syndrome [apds].
Activated Phosphoinositide 3-kinase Delta Syndrome (APDS) is a rare immunodeficiency disorder characterized by a defect in the phosphoinositide 3-kinase (PI3K) pathway, specifically involving the delta isoform of the enzyme. This condition leads to impaired immune responses, resulting in increased susceptibility to infections, particularly respiratory and viral infections. Patients may also experience lymphoproliferation, autoimmune manifestations, and hematologic abnormalities such as lymphopenia and hypogammaglobulinemia. The clinical presentation can vary widely, with some individuals exhibiting severe symptoms early in life, while others may have a more indolent course. Diagnosis is typically confirmed through genetic testing, identifying mutations in the PIK3CD gene. Management often includes immunoglobulin replacement therapy, prophylactic antibiotics, and in some cases, hematopoietic stem cell transplantation. Due to the complexity of the immune system's involvement, APDS requires a multidisciplinary approach for optimal patient care.
Detailed clinical history, genetic testing results, and treatment plans.
Patients presenting with recurrent infections, autoimmune symptoms, or lymphoproliferative disorders.
Ensure comprehensive documentation of all immunological assessments and responses to therapies.
Complete blood counts, immunoglobulin levels, and any hematologic evaluations.
Patients with unexplained cytopenias or lymphadenopathy.
Document any hematologic abnormalities and their relation to the immunodeficiency.
Used for obtaining blood samples for immunological testing.
Document the reason for blood draw and any relevant clinical history.
Ensure that the specialty performing the procedure is noted.
APDS is primarily caused by mutations in the PIK3CD gene, which affects the PI3K signaling pathway critical for immune function.
