How do I know if I have Congenital Hyperinsulinism?

Congenital Hyperinsulinism is a rare condition characterized by the overproduction of insulin by the pancreas, leading to dangerously low blood sugar levels (hypoglycemia). If you suspect you or a loved one has Congenital Hyperinsulinism, look for symptoms like persistent, unexplained hypoglycemia, especially after fasting or physical activity, and seek urgent consultation with an endocrinologist.

What are the warning signs of Congenital Hyperinsulinism?

Congenital Hyperinsulinism typically presents in infancy, though milder forms may be diagnosed later. The hallmark of Congenital Hyperinsulinism is recurrent hypoglycemia that occurs despite high glucose intake. Symptoms often include irritability, lethargy, tremors, seizures, and poor feeding. Unlike normal variations in blood sugar, the hypoglycemia associated with Congenital Hyperinsulinism is often severe and requires medical intervention to stabilize blood glucose levels.

How is Congenital Hyperinsulinism diagnosed?

Diagnosis requires specialized biochemical testing performed during an episode of hypoglycemia. When speaking with your physician, emphasize the frequency and severity of your low blood sugar episodes. You should request the following tests to investigate Congenital Hyperinsulinism:

• Critical Sample: Blood tests taken during hypoglycemia to measure insulin, C-peptide, cortisol, and growth hormone levels.


• Glucose Infusion Rate (GIR): A test to determine how much glucose is required to maintain safe blood sugar levels.


• Genetic Testing: Analysis for mutations in genes such as ABCC8 or KCNJ11, which are linked to Congenital Hyperinsulinism.

When should I seek urgent medical care?

If you experience signs of severe hypoglycemia, such as confusion, loss of consciousness, or seizures, seek emergency medical care immediately. Inform the emergency staff that you are investigating Congenital Hyperinsulinism, as standard protocols for hypoglycemia may need adjustment for this specific condition.

How can I advocate for myself?

If your concerns are dismissed, keep a detailed log of blood glucose readings, symptoms, and timing relative to meals. Ask for a referral to a pediatric or adult endocrinologist who specializes in metabolic disorders. You may also connect with the 5 members of the DiseaseMaps.org community who are navigating Congenital Hyperinsulinism to share experiences and find specialized care centers.

Next steps

• Consult an endocrinologist specializing in rare metabolic conditions.


• Maintain a detailed symptom and blood glucose diary.


• Join a support network like the Congenital Hyperinsulinism International (CHI) foundation.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Congenital Hyperinsulinism.


• Orphanet: Congenital Hyperinsulinism (ORPHA:418).


• OMIM (Online Mendelian Inheritance in Man): Hyperinsulinemic Hypoglycemia.


• Congenital Hyperinsulinism International (CHI) Patient Resources.