What is Congenital Hyperinsulinism (HI)?
HI is a rare condition in which the pancreas produces too much insulin, causing frequent and often severe episodes of low blood glucose (hypoglycemia). Because the brain relies on glucose as its main energy source, untreated hypoglycemia can lead to serious complications, including neurodevelopmental disorders. Early diagnosis and proper treatment are key to keeping people with HI healthy and safe.
What causes HI?
HI is caused by pancreatic beta cells releasing more insulin than the body needs, leading to dangerously low blood glucose. HI is the most common and most severe cause of long-lasting hypoglycemia in newborns and children.
How common is HI?
In most countries, HI affects about 1 in 28,000 babies, and HI is most often diagnosed in the newborn period. In the United States, HI is classified as a rare disease because it affects fewer than 200,000 people.
Can HI be passed down or inherited?
Yes. HI is a genetic condition, caused by variants (changes) in certain genes. HI can be inherited from one or both parents, depending on the type of HI, or the variant may occur randomly. Genetic testing of a child with HI and their parents can determine how the variant occurred, and a genetic counselor can determine the likelihood of additional children (including older siblings) having HI. Learn more about genetics and the genetics of HI.
CHI and the University of Exeter Genomics Program began a partnership called the Open Hyperinsulinism Genes Project that has provided free genetic testing for over 1000 individuals with HI and their family members. Additional information about the qualifications for this program can be found here.
What are the different types of HI?
There are two primary subtypes of HI: focal and diffuse. Focal HI is a type of HI that typically only affects one area in the pancreas. A portion of beta-cells overproduce insulin and form a lesion. This lesion can be removed and, in most cases, HI is cured. However, the outcome of this surgery depends on where the focal lesion is. In rare cases, a focal lesion may be in a part of the pancreas that makes surgery more difficult, like the pancreatic head. This surgery can sometimes be more complicated because other important parts of the body, like the small intestine, make it riskier.
Diffuse HI is a subtype that affects beta-cells throughout the pancreas. Anyone who does not have focal HI has diffuse HI, including individuals with atypical HI or other syndromes that present with HI. Sometimes diffuse HI can be managed with medication, and in other cases, surgery may be used to manage the condition.
How is HI treated?
The current medications used to treat HI include diazoxide, octreotide, lanreotide, and glucagon. Diazoxide is given by mouth 1-3 times per day, but is often not effective in children with certain genetic forms of HI. Octreotide is a drug that is given as an injection or through an insulin pump. Octreotide injections are given either multiple times per day, through an insulin pump (with no insulin), or in a long-acting form given once monthly. Lanreotide is a once monthly injection. Some children receive additional carbohydrates to manage their HI, and this can be delivered through a gastrostomy tube. Glucagon can be used in cases of emergency and can be given through a vein, as an injection under the skin, as an injection into the muscle, or by nasal spray. To learn more about HI, including more details on the treatments available, visit our Understanding the Condition page.
Not all current treatments work for every child, and some children may require surgery or other forms of care to manage HI. New treatments are being developed and tested through clinical research trials. We encourage you to consult with your doctor and care team to determine the best approach to treating your child with HI and to learn more about clinical trial options if you’re interested.
Will my child outgrow HI?
Many children with focal hyperinsulinism can be cured with surgery. Some children with diffuse HI experience improvement over time, and some do not need to take medication for the condition after a few weeks or months (transient HI). Even some people with persistent diffuse HI no longer need medication after a few years, or some no longer require treatment at a later age in childhood. Others have a lifelong condition requiring on-going management. The Understanding the Condition page on our website offers more details on the different subtypes of HI.
What research is being done to understand HI?
There are many clinicians and researchers conducting research about HI around the world. A few snippets of ongoing research are included here:
- The HI Global Registry (HIGR) is an on-going research project that collects data from people with HI and their caregivers. After joining HIGR, people with HI and/or their caregivers can participate in surveys capturing information about being diagnosed with and living with HI. The data from HIGR can then be used to create better treatments and improve HI care. When data is shared from HIGR, all responses are anonymous/deidentified to protect your privacy. HIGR is available in many languages and can be completed on a desktop or mobile device.
- The CHI Collaborative Research Network (CRN) is a group of researchers, clinicians, and expert patient and caregiver advocates that are working together to accelerate HI research. Since the founding of the CRN in 2020, over half of all published literature about HI has been authored by a member of the CRN. Other notable accomplishments of the CRN include the publication of the International Guidelines for the Diagnosis and Management of Hyperinsulinism (and a lay version!) and publication of a Prioritized Research Agenda, highlighting the most pressing needs for HI research and advancement.
- CHI is a consortium members of the LightCure research project. The scientific researchers leading this work are developing a targeted photodynamic therapy to treat HI. While that work is going on in the laboratory, CHI is contributing to the project by engaging patients and clinicians worldwide through awareness campaigns, creating a documentary film, education initiatives, and more.
- New medications to treat HI are tested through clinical research trials.
- CHI-led research projects are often recruited through social media channels and our email listserv. We encourage you to follow us and join our email list to have early access to these opportunities!
How can I provide more information to my clinician about HI?
We encourage you to share the International Care Guidelines with your clinicians (they may already know about them!). If they have additional questions or concerns, we encourage them to consult with HI-expert clinicians at the CHI Centers of Excellence. They are also welcome to join our mailing list to keep up with CHI or come to our events and conferences.
If you’re interested in the care guidelines, but would like them presented in a different way, we encourage you to read the Care Guidelines Simplified. This document is a line by line “translation” of the original document in a way that may be easier to understand.
Are there other families I can talk to?
Yes! There are many families with HI who are eager to share their experiences and support one another. You can connect through our Facebook Forum, family conferences, or by watching videos on our HI-Stories page, or connect with an HI parent mentor.
