The purpose of this overview is to increase the awareness of clinicians regarding familial hyperinsulinism (referred to as FHI in this GeneReview) and its genetic causes and management. The following are the goals of this overview.
Goal 1: Describe the clinical characteristics of FHI.
Goal 2: Review the genetic causes of FHI.
Goal 3: Provide an evaluation strategy to identify the genetic cause of FHI in a proband (when possible).
Goal 4: Inform (when possible) medical management of FHI based on genetic cause and evaluation of relatives at risk.
Goal 5: Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FHI.
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