Javed Anees: DADA2 – When a Young Stroke Is More Than a Stroke
Javed Anees, Medical Consultant at Government of Kerala, shared a post on LinkedIn:
“DADA2 – When a Young Stroke Is More Than a Stroke
Deficiency of Adenosine Deaminase 2 (DADA2) is a fascinating monogenic disorder at the intersection of neurology, rheumatology, immunology and hematology.
Its phenotype can range from PAN-like inflammatory vasculopathy and recurrent early-onset ischemic or hemorrhagic cerebrovascular events to immune dysregulation, cytopenias and bone-marrow failure. The striking clinical variability makes recognition challenging.
A useful clinical trigger is:
Young-onset or recurrent stroke and PAN-like systemic features with or without cytopenias or immunodeficiency, then consider DADA2.
Reduced ADA2 enzymatic activity, followed by molecular confirmation of biallelic ADA2 variants, establishes the diagnosis in the appropriate clinical setting.
Recognition matters because the diagnosis changes management—particularly the role of TNF inhibition in preventing recurrent vascular events in the vasculitic or neurovascular phenotype.
An important reminder that unusual neurological presentations sometimes require us to look beyond acquired vascular disease and consider monogenic vasculopathies.”
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