Dangerous Disease

Familial Hyperinsulinism

Familial Hyperinsulinism

Familial hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels.
Focal endocrine adenomatosis of the pancreas in a 1-month-old, 34-week gestation premature baby girl with persistent hypoglycemia and hyperinsulinism.

How common is Hyperinsulinism?

Familial hyperinsulinism has an estimated incidence of 1 in 50,000 live births. This condition is more common in countries where there are high rates of marriages between relatives. In these populations the condition is thought to affect 1 in 2,500 live births.

What genes are related to familial hyperinsulinism?

Familial hyperinsulinism is caused by mutations in genes that regulate the release of insulin. Insulin is produced by beta cells in the pancreas. Insulin controls how much sugar is passed from the bloodstream into cells to be used as energy. Gene mutations that cause familial hyperinsulinism lead to over-secretion of insulin from beta cells.Normally, insulin is secreted in response to the amount of glucose in the bloodstream, but in people with familial hyperinsulinism, insulin is secreted from beta cells despite the amount of glucose present.

How do people inherit familial hyperinsulinism?

Most often, the diffuse form of the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Less frequently, the diffuse form is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.