What Your Test Results Mean:

Some carriers show no symptoms of ABCC8-related hyperinsulinism while others have symptoms ranging from congenital hyperinsulinism to type 2 diabetes mellitus in adulthood. All carriers are at an increased risk of having a child with ABCC8-related hyperinsulinism.

Disease Explained:

ABCC8-related hyperinsulinism is an inherited disorder characterized by hypoglycemia, or low blood sugar. Individuals with ABCC8-related hyperinsulinism release insulin into the blood stream even in the absence of glucose. The low level of sugar in the blood increases the risk for seizures and brain damage and can ultimately lead to death.

Treatment of individuals with ABCC8-related hyperinsulinism includes glucose infusions as well as other medications and frequent eating to prevent complications associated with hypoglycemia. In some cases it may be necessary to surgically remove most of the pancreas. Even with treatment, some individuals may have some degree of brain damage or learning disabilities.

How the Genetics Works:

In general, individuals have two copies of the ABCC8 gene. Individuals with ABCC8-related hyperinsulinism typically have pathogenic variants in both copies of their ABCC8 genes, one inherited from each parent. In addition to the autosomal recessive form, ABCC8-related hyperinsulinism caused by a single ABCC8 variant, E1506K, has been associated with symptoms ranging from congenital hyperinsulinism to type 2 diabetes mellitus in adulthood.