Vascular anomalies
Others

Diagnosis
We can suspect about the presence of one of these vasculopathies by analysing clinical symptoms. Primary care physicians, paediatricians or ER doctors are the first barrier for diagnosis of these children. When a child is showing any of the clinical symptoms described before (section PROS: PI3K Related Overgrowth Spectrum), a genetic analysis is performed to identify if any of the involved genes is mutated. When testing positive, the diagnosis is definitive and measures should be taken as soon as possible.

Last modified
21 December 2020