Patient Journey

Hypoglycaemia is a term for low blood sugars. The normal blood sugar range is 4-6 mmol/L. Hypoglycaemia occurs if blood sugar levels less than 3.0 mmol/L (55 mg/dl). Repeated and severe hypoglycaemia is not good for brain development.

It is important that a correct diagnosis of Congenital Hyperinsulinism (CHI) is made for the cause of hypoglycaemia (low blood sugars). In CHI, insulin levels are high when the blood sugar is low. A fat breakdown product, called ketone, is also low. In some children, there may be a genetic cause for disease. The most important genes are called ABCC8 and KCNJ11. There may be changes in these genes, which are called mutations. It is important to understand if a genetic mutation is inherited from the father or the mother. If the mutation is inherited only from the father, there is a good chance that your child may have a localised form of CHI, called focal CHI. If not, your child may have the more extensive form of CHI, called diffuse CHI.

The immediate priority of management of hypoglycaemia (low sugars) in CHI is to stabilise the sugar levels. Ideally, all sugars should be more than 3.5 mmol/l. Once CHI is confirmed, treatment is started with medication called diazoxide, given by mouth. Another medicine, called octreotide can be given either under the skin or into a vein. If response is good, then medication will be continued at home. If no response is achieved with medication, the pancreas may have to be removed by surgery.

This is a special scan to find out if only one part of the pancreas is affected. This is called a focal lesion or focal Congenital Hyperinsulinism (CHI). Focal CHI can be treated by an operation to the part of the pancreas affected with CHI. The rest of the pancreas is left alone, which means that after focal surgery, the child is cured. The scan may show that the whole pancreas is equally affected; this is called diffuse CHI. For diffuse CHI, the best option is treatment with medicines. If medicines do not work, then surgery to remove most of the pancreas may have to be done. Not many centres treating children with CHI around the world have facilities for this scan as the dye 18-fluoro-Dopa has to be specially made. For the scan your child will be put to sleep with a general anaesthetic. The Doctors and nurses treating your child will discuss the procedure of the scan in a lot of detail.

Broadly there are two types of surgery of the pancreas. In the condition called focal Congenital Hyperinsulinism (CHI), where only a small part of the pancreas is affected, surgery to the affected area can be done with complete cure. However, occasionally when the focal CHI is in a part of the pancreas which is close to important structures, surgery may not be the best thing to do. In particular, if the focal CHI is close to a bit of plumbing called the “bile duct”, it may be wise to defer surgery and treat with medicines. For diffuse CHI, treatment with medicines has to be tried first. If medicines do not work, surgery is the only option. Here surgery involves removal of most of the pancreas. This may improve the sugars, but in time, the child is likely to be diabetic. With diabetes, less insulin is produced from the small amount of pancreas left behind. The child will then require insulin injections every day.