Long-Term Outcome and Treatment in Persistent and Transient Congenital Hyperinsulinism: A Finnish Population-Based Study

Context: The management of congenital hyperinsulinism (CHI) has improved. Objective: To examine the treatment and long-term outcome of Finnish patients with persistent and transient CHI (P-CHI and T-CHI). Design: A population-based retrospective study of CHI patients treated from 1972 to 2015. Patients: 106 patients with P-CHI and 132 patients with T-CHI (in total, 42 diagnosed before and 196 after year 2000) with median follow-up durations of 12.5 and 6.2 years, respectively. Main outcome measures: Recovery, diabetes, pancreatic exocrine dysfunction, neurodevelopment. Results: The overall incidence of CHI (n = 238) was 1:11 300 live births (1972-2015). From 2000 to 2015, the incidence of P-CHI (n = 69) was 1:13 500 and of T-CHI (n = 127) 1:7400 live births. In the 21st century P-CHI group, hyperinsulinemic medication was initiated and normoglycemia achieved faster relative to earlier. Of the 74 medically treated P-CHI patients, 68% had discontinued medication. Thirteen (12%) P-CHI patients had partial pancreatic resection and 19 (18%) underwent near-total pancreatectomy. Of these, 0% and 84% developed diabetes and 23% and 58% had clinical pancreatic exocrine dysfunction, respectively. Mild neurological difficulties (21% vs 16%, respectively) and intellectual disability (9% vs 5%, respectively) were as common in the P-CHI and T-CHI groups. However, the 21st century P-CHI patients had significantly more frequent normal neurodevelopment and significantly more infrequent diabetes and pancreatic exocrine dysfunction compared with those diagnosed earlier. Conclusions: Our results demonstrated improved treatment and long-term outcome in the 21st century P-CHI patients relative to earlier.

Automated summary

The management of congenital hyperinsulinism (CHI) has improved over the years, with 21st century patients showing better outcomes in terms of treatment and long-term results. Compared to earlier diagnosed patients, those in the 21st century had lower rates of diabetes and pancreatic exocrine dysfunction, and more normal neurodevelopment.