Most Genetic Diabetes Misdiagnosed

'We Need to Look Out for Unusual Types of Diabetes'

Andrew Hattersley, MD


July 11, 2013

This feature requires the newest version of Flash. You can download it here.
In This Article

Monogenic Diabetes: Undiagnosed and Untreated

Hi. I am Andrew Hattersley, a physician from Exeter in the United Kingdom. I am going to speak about monogenic diabetes -- what is new, and what we have learned at the American Diabetes Association (ADA) annual meeting.

The most important thing to take away is a new study conducted in the United States by the Search Group. They showed that 93% of patients with monogenic diabetes in US pediatric clinics are not recognized. They are misdiagnosed as having type 1 or type 2 diabetes. That matters, because it results in children receiving the wrong treatment.

It is important to identify patients with monogenic diabetes. This is difficult, however, because very little training has taken place in this area. It tends to be in the genetics section, where nobody goes. We need clinicians to realize that there are types of diabetes other than type 1 and type 2.

You should be looking out for some very specific common subtypes, such as glucokinase. The blood glucose level of these people is reset at a higher level; they are born with a glucose level between 100 mg/dL and 150 mg/dL, and it stays high for life. Their blood glucose levels are regulated, so they don't develop type 2 diabetes. Instead, their fasting blood glucose levels remain high and are often picked up as incidental findings in children, women with gestational diabetes, and patients undergoing routine physical examinations.

These people don't look like typical patients with type 2 diabetes. They are too young and too slim. They can be diagnosed with a genetic test. We have done tests on them; they don't have any long-term microvascular problems, and they do not respond to standard treatment. They stay well-controlled no matter what you give them, so we urge clinicians to give them nothing and make sure that they are recognized as not having type 2 diabetes.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.