Kristen Rohli, PhD, Associate Director of Research at Congenital Hyperinsulinism International, discusses congenital hyperinsulinism (HI) diagnosis and management.
Congenital HI is a condition caused by abnormally high levels of insulin, a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by lethargy, irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.
Early symptoms of congenital HI can be challenging to recognize because they often mimic normal behaviors in babies such as excessive crying and eating or generally feeling displeased or uncomfortable. Other, more severe symptoms such as seizures and blue skin, may prompt more tests to be run. These babies often present with high insulin and low glucose in lab tests. Ms. Rohli highlights that about 60% of patients are diagnosed within the first year of life.
The only FDA approved medication for congenital HI is diazoxide, a nondiuretic benzothiadiazine that primarily acts as an ATP-sensitive potassium channel opener. However, Ms. Rohli explains that around 50% of patients do not respond to this medication. Other medications, such as somatostatin analogs octreotide and lanreotide, are used off-label. There are also currently many investigational treatments going through the clinical trial pipeline.
Congenital Hyperinsulinism International provides support, research, and awareness for patients, caregivers, and families. Clinicians can access international guidelines for diagnosis and treatment and families can view a translation of those guidelines into lay terms and images. Additionally, the organization works to connect families with each other and with a global patient registry. Family conferences are held twice a year where patients and families can meet each other and connect with top researchers. The next conference will be held in Marseille, France in September 2026.
To learn more about congenital HI and other rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/
