Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a focal, diffuse, or atypical histological form and a high risk of cerebral injury due to severe hypoglycemia.
Methods: We retrospectively evaluated the treatment and outcome of a cohort of patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark from January 2000 to May 2017. Data were extracted from hospital files.
Results: In our cohort of 68 patients with persistent CHI, 40 (59%) had non-focal CHI, diffuse; n=36, atypical; n=4. Twenty-two patients (55%) could not be managed with medical monotherapy (diazoxide or octreotide) and six (15%) patients developed severe potential side effects to medication, hypertrophic cardiomyopathy; n=4 (potentially due to hyperinsulinism itself),thrombocytopenia after diazoxide; n=2. Surgery was performed in 17 (43%) patients with resection of 6698% of the pancreas (median=90%). Surgically treated patients had more frequently KATP-channel mutations (surgical; 12/17 vs. conservative treatment; 6/23, P=0.013), highly severe disease (15/17 vs. 13/23, P=0.025) and clinical onset <30 days of age (15/17 vs. 10/23, P=0.004). Ten out of 17 (59%) had mild (n=9), or severe (septicemia and multiorgan failure, n=1), early post-surgical complications. At last follow-up with a median (range) age of 5.3 (0.331.3) years, 32 (80%) patients still received medical treatment, including 12 (71%) after surgery. One patient had diabetes after a 98% pancreatic resection. Problematic treatment status (lack of hypoglycemia control, severe medical side effects, tube feeding, or diabetes) was seen in 17.5%. Only 20% (n=8, pancreatic surgery in five) had clinical remission. Neurodevelopmental impairment (n=12, 30%) was marginally associated with disease severity (P=0.059).
Conclusion: Persistent, non-focal CHI remains difficult to manage. Neurological impairment in 30% suggests a frequent failure of prompt and adequate treatment. A high rate of problematic treatment status at follow-up demonstrates an urgent need for new medical treatment modalities. [HC1] hold fast i hypoglycemia control, ikke hypoglycemic control.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology