Adenosine deaminase 2 deficiency
ICD-10 D81.32 is a billable code used to indicate a diagnosis of adenosine deaminase 2 deficiency.
Adenosine deaminase 2 deficiency (ADA2 deficiency) is a rare genetic disorder characterized by a deficiency of the enzyme adenosine deaminase 2, which plays a crucial role in purine metabolism. This condition leads to the accumulation of toxic metabolites, particularly deoxyadenosine, which can cause a range of hematological and immunological complications. Patients with ADA2 deficiency often present with early-onset systemic vasculitis, recurrent infections, and hematological abnormalities such as anemia and thrombocytopenia. The condition is inherited in an autosomal recessive manner and is associated with mutations in the ADA2 gene. Clinical manifestations can vary widely, with some patients experiencing severe symptoms while others may have milder presentations. Diagnosis is typically confirmed through genetic testing and enzyme activity assays. Management of ADA2 deficiency focuses on symptomatic treatment, including immunosuppressive therapy for vasculitis and supportive care for hematological issues. Bone marrow transplantation may be considered in severe cases. Early recognition and intervention are crucial to improving outcomes for affected individuals.
Detailed clinical history, laboratory results, and treatment plans must be documented.
Patients presenting with unexplained anemia, recurrent infections, or systemic vasculitis.
Ensure that all laboratory tests and genetic evaluations are clearly documented to support the diagnosis.
Genetic testing results, family history, and inheritance patterns must be documented.
Patients with a family history of immunodeficiency or unexplained hematological disorders.
Documentation should include details of genetic counseling and any family testing performed.
Used for confirming diagnosis in suspected ADA2 deficiency cases.
Document the reason for testing and any relevant clinical findings.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include recurrent infections, systemic vasculitis, anemia, and thrombocytopenia. Symptoms can vary widely among patients.
Diagnosis is confirmed through genetic testing for mutations in the ADA2 gene and enzyme activity assays to measure adenosine deaminase levels.
