Most Genetic Diabetes Misdiagnosed
Most Genetic Diabetes Misdiagnosed
To summarize, there are 2 main subtypes of monogenic diabetes or MODY that are very different. The first is glucokinase MODY, or MODY 2, and these patients have stable blood glucose throughout life and do not need any treatment. They will not develop complications and treatment does not alter their A1c levels.
The second group is MODY 3, or HNF1-alpha. These patients have high blood glucose levels. They will develop complications if not treated appropriately, but making the diagnosis allows you to treat them with very low-dose sulfonylureas.
One final group to tell you about is much rarer than the first 2 groups, but is vital and relatively easy to spot: Every patient who is diagnosed under 6 months of age has monogenic diabetes and does not have type 1 diabetes. This is very important, because one half of those patients will have a mutation in the sulfonylurea channel, either in the SUR1 bit or the Kir6.2. Although these patients are insulin-dependent, they respond to high-dose sulfonylureas and can have superb blood glucose control on high-dose sulfonylureas without hypoglycemia. In our recent trial, we found that 90% of these patients could stop their insulin and that in every single person who stopped the insulin, the A1c level was lower without an increase in hypoglycemia.
If you have any patients in your clinic who were diagnosed at less than 6 months of age, make sure they receive a genetic diagnosis. At diabetesgenes.org, we offer free genetic testing for patients in this age group.
What have we heard at the ADA meeting? We heard from a group from Chicago who have been doing some very exciting work with their registry and are bringing together a lot of clinical expertise in the United States. We heard about new genes being developed by new sequencing techniques. For all of these new technical findings, what is most important is that many patients are not recognized. They need to be identified and started on treatment.
We are left with the fact that you have patients who are sitting in your clinics who have monogenic diabetes but are not diagnosed. You need to consider the possibility that a patient has something other than type 1 or type 2 diabetes.
In the right patients, perform diagnostic genetic testing and when you find a gene, change the patient's treatment. In doing so, you will be doing an enormous service for those patients and their families, and that is what really matters in monogenic diabetes. Thank you very much.
Subgroups of MODY
To summarize, there are 2 main subtypes of monogenic diabetes or MODY that are very different. The first is glucokinase MODY, or MODY 2, and these patients have stable blood glucose throughout life and do not need any treatment. They will not develop complications and treatment does not alter their A1c levels.
The second group is MODY 3, or HNF1-alpha. These patients have high blood glucose levels. They will develop complications if not treated appropriately, but making the diagnosis allows you to treat them with very low-dose sulfonylureas.
One final group to tell you about is much rarer than the first 2 groups, but is vital and relatively easy to spot: Every patient who is diagnosed under 6 months of age has monogenic diabetes and does not have type 1 diabetes. This is very important, because one half of those patients will have a mutation in the sulfonylurea channel, either in the SUR1 bit or the Kir6.2. Although these patients are insulin-dependent, they respond to high-dose sulfonylureas and can have superb blood glucose control on high-dose sulfonylureas without hypoglycemia. In our recent trial, we found that 90% of these patients could stop their insulin and that in every single person who stopped the insulin, the A1c level was lower without an increase in hypoglycemia.
If you have any patients in your clinic who were diagnosed at less than 6 months of age, make sure they receive a genetic diagnosis. At diabetesgenes.org, we offer free genetic testing for patients in this age group.
What have we heard at the ADA meeting? We heard from a group from Chicago who have been doing some very exciting work with their registry and are bringing together a lot of clinical expertise in the United States. We heard about new genes being developed by new sequencing techniques. For all of these new technical findings, what is most important is that many patients are not recognized. They need to be identified and started on treatment.
We are left with the fact that you have patients who are sitting in your clinics who have monogenic diabetes but are not diagnosed. You need to consider the possibility that a patient has something other than type 1 or type 2 diabetes.
In the right patients, perform diagnostic genetic testing and when you find a gene, change the patient's treatment. In doing so, you will be doing an enormous service for those patients and their families, and that is what really matters in monogenic diabetes. Thank you very much.
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