A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia.
Felicity StringerC PrestonR MacIsaacF InchleyL Rivera-WollS FarrellN SachithanandanPublished in: Endocrinology, diabetes & metabolism case reports (2024)
Congenital hyperinsulinism is a rare cause of hyperinsulinaemic hypoglycaemia diagnosed in adulthood. Clinical presentation is similar to an insulinoma, and imaging modalities may assist in differentiation. There are minimal medical therapies currently available for patients non-responsive to diazoxide (such as those with ABCC8 and KCNJ11 variants). Continuous glucose monitoring can be helpful in giving patients autonomy in managing their disease, as well as relieving anxiety and fear associated with hypoglycaemia.