This project aimed to support the equitable offer and access of glucokinase hyperglycaemia testing in pregnancy within the specialist maternity diabetes services across the East Midlands and East of England.
What did we do?
We employed two specialist midwives from April-September 2024 to:
- Map and scope the current services offered by diabetes specialist teams within maternity services across the East Midlands and East of England.
- Raise awareness of the availability of Glucokinase hyperglycaemia testing.
- Develop and provide educational opportunities for the clinical teams.
- Provide tools and support for Trusts to initiate and embed the pathway within antenatal services.
Outcome
This transformation project is now closed. For more information, please use contact details below.
What is glucokinase hyperglycaemia?
Glucokinase hyperglycaemia is a subtype of monogenic diabetes, otherwise known as Maturity Onset Diabetes of the Young (MODY).
Monogenic (mono = one; genic = gene) diabetes is a rare, genetic form of diabetes, which is different from both type 1 and type 2 diabetes as it caused by a change in a single gene.
Over forty different genes have been identified which, when a change occurs, can cause monogenic diabetes. It accounts for less than 5% of all diabetes cases in the UK and it is thought around 80% of patients are initially misdiagnosed with another form of diabetes.
Glucokinase hyperglycaemia is a change in the glucokinase gene which causes a mildly raised fasting (before breakfast) blood glucose (sugar).
Genes provide instructions to help our bodies develop, grow and work. Genes are inherited from our parents. Changes in the GCK gene can therefore be inherited, which means the change can be passed on from parent to child.
Although glucokinase hyperglycaemia causes mildly raised blood sugar, it is not known to cause long term health problems and outside of pregnancy does not require any treatment or monitoring. People with glucokinase hyperglycaemia are at no higher risk of developing type 2 diabetes than the rest of the population.
Typically, people with glucokinase hyperglycaemia tend to be slim, and often have a parent diagnosed with diabetes. 1 in 1000 people have glucokinase hyperglycaemia.
Glucokinase hyperglycaemia is not diabetes.
People with Glucokinase hyperglycaemia tend to have a haemoglobin A1c (HbA1c) of 38 – 58mmol/mol without complications or the need for treatment. A HbA1c is a blood test which examines your average blood glucose level over the last two to three months and can be used to diagnose type 2 diabetes. A HbA1c of 48 mmol/mol is the diagnostic level for type 2 diabetes for people without glucokinase hyperglycaemia.
This ‘raised’ HbA1c level can cause people with glucokinase hyperglycaemia to be misdiagnosed as gestational diabetes or established diabetes. For people with glucokinase hyperglycaemia, concurrent type 2 diabetes would be diagnosed if the HbA1c was over 58 mmol/mol, rather than the standard 48 mmol/mol.
Glucokinase hyperglycaemia and pregnancy
Screening for Gestational Diabetes Mellitus (GDM) may be offered to identify ‘at risk’ pregnancies. Undiagnosed GDM can cause problems for both the pregnant person and their baby. GDM is a commonly occurring pregnancy complication, affecting at least 4-5 in every 100 pregnant people and it is estimated that around 30,000 women/birthing people are diagnosed with this condition every year.
Approximately 1 in 100 (1%) of people diagnosed with GDM, will have been misdiagnosed and have glucokinase hyperglycaemia. This would mean that the treatment and care may not be the most effective for that person and pregnancy. Treatment for glucokinase hyperglycaemia during pregnancy is dependent on whether the baby does or does not also have glucokinase hyperglycaemia.
The National Genomics test directory (opens in a new tab) provides a set of criteria which identifies that women who have been diagnosed with GDM, may be eligible for glucokinase hyperglycaemia screening, depending on their BMI and fasting glucose. (Please refer to the National genomics testing directory for the most up-to-date criteria).
By correctly identifying glucokinase hyperglycaemia, people can be offered personalised care and avoid possible unnecessary intervention during pregnancy and beyond.
Outside of pregnancy people with glucokinase hyperglycaemia generally do not need specialist treatment or investigations (such as: medication to lower their blood glucose, blood glucose monitoring, retinal (eye) screening, diabetic foot checks). People with glucokinase hyperglycaemia are at no elevated risk of developing type 2 diabetes than the rest of the population. 1 in 1000 people have glucokinase hyperglycaemia.
Project team (April - September 2024)
- Dr Vidya Srinivas - Clinical Lead for Monogenic Diabetes, East GMSA
- Beth Evans - Specialist Midwife - Monogenic Diabetes
- Nicola Young - Specialist Midwife - Monogenic Diabetes
Contact for project information:
- Katy Blakely - Regional Programme Manager, East GMSA (Katy.blakely@nnuh.nhs.uk)
- Joanne Hargrave - Lead Midwife, East GMSA (Joanne.Hargrave@nnuh.nhs.uk)