User:Adam Harangozó (NIHR WiR)/sandbox/HI

Congenital hyperinsulinism (CHI or HI) is a rare condition causing severe hypoglycemia (low blood sugar) in newborns due to the overproduction of insulin. There are various causes of CHI, some of which are known to be the result of a genetic mutation. Sometimes CHI occurs on its own (isolated) and more rarely associated with other medical conditions (as a syndrome).

Congenital forms of hyperinsulinism can be transient (short-term) or persistent (long-term) and mild or severe. It can be the result of a defect in the entire pancreas (diffuse CHI) or in just part of the pancreas (focal CHI). Irrespective of the form, cause, or type, CHI is a medical emergency that must be managed from its onset. There is no other hypoglycemic condition in the newborn period as dangerous as CHI. Left untreated, hypoglycemia from CHI can cause developmental disorders, seizures, permanent brain damage, and even death.

For those with focal CHI, there is the potential for a cure with surgery. For those with diffuse CHI, diazoxide is the only approved medication to treat hypoglycemia. For those who do not respond to diazoxide, the condition is often managed with continuous carbohydrates delivered through a feeding pump and a gastrostomy tube, off-label use of medications such as short or long-acting octreotide given by injection. In the most severe cases, surgery may be necessary to remove most of the pancreas. New and more effective treatments are in development for those who continue to have hypoglycemia on existing therapies and treatments, and for those who experience adverse effects of current treatments.

The incidence of persistent CHI has been found to range from 1:2,500 to 1:50,000 births depending on the region or country. The incidence of transient forms of CHI has been estimated to be between 1:1200 and 1:2000.

About 60% of babies with HI develop hypoglycemia during the first month of life. An additional 30% will be diagnosed later in the first year and some later in life.

Patient advocacy organizations
Patient advocacy organizations dedicated to improving the lives of people born with congenital hyperinsulinism play an important role in supporting people with the disease and their families, participating in and funding research on CHI, and raising awareness of the condition. For example Congenital Hyperinsulinism International is a globally focused patient advocacy organization dedicated to improving the lives of people born with congenital hyperinsulinism. They are a member of the Chan Zuckerberg Initiative's Rare as One Network, which is a group of patient led organizations that have launched collaborative research networks.

Country specific patient advocacy organizations include:


 * Austria: Lobby4kids
 * Argentina: Hiperinsulinismo Congénito (HICA)
 * Brazil: Associação Hiperinsulinismo Congênito
 * France: Association des Hyperinsulinismes
 * Germany: Kongenitaler Hyperinsulinismus e.V.
 * Italy: Vivere con C.H.I.
 * Spain: Hiperinsulinismo Congenito
 * Turkey: Konjenital Hiperinsülinizm Hasta Aileleri Dernegi
 * United Kingdom: The Children’s Hyperinsulinism Charity

Patient registries
People with congenital hyperinsulinism can participate in a patient reported registry called the HI Global Registry. By submitting a survey on their experiences to the registry, people with CHI can help research on the condition.

Centers of Excellence
Since 2021, centers that provide the highest quality of care for people with congenital hyperinsulinism (HI) are designated as Centers of Excellence (COE) by the Congenital Hyperinsulinism International (CHI). Being a COE also involves a commitment to research and collaboration.

The CHI Center of Excellence are:


 * Congenital Hyperinsulinism Center at the Children’s Hospital of Philadelphia, PA, United States
 * The Hyperinsulinism Center at Cook Children’s Medical Center in Fort Worth, TX, United States
 * Congenital Hyperinsulinism Service at the Great Ormond Street Hospital in London, United Kingdom
 * Charite-Universitatsmedizin Berlin and the University Children’s Hospital Duesseldorf partnership in Germany
 * Collaborative Alliance on Congenital Hyperinsulinism (COACH) headquartered in Magdeburg, Germany
 * Northern Congenital Hyperinsulinism Service (NORCHI) in Manchester and Liverpool, in the United Kingdom