Early Diagnosis of T1D


Linda A. DiMeglio, MD, comments on the importance of early diagnosis of T1D, giving patients the advantage of preparing a treatment plan early.

Steve Edelman, MD: Why is the early diagnosis of type 1 diabetes so important? It’s in the title of this program. What are the major consequences of underdiagnosed type 1 diabetes on not only the individual but also the family?

Linda A. DiMeglio, MD: It’s an important question, and I look forward to hearing everybody’s perspectives. Early diagnosis is important for several reasons. One is being able to potentially prepare for the diagnosis of diabetes in somebody who’s at risk. Although it’s an impactful and difficult diagnosis to identify somebody, particularly stage II but also stage I, it’s a chance for family members and an individual who’s going to be living with diabetes to adapt, get prepared, and come up with a plan for starting insulin. For individuals who aren’t diagnosed early and are diagnosed later with symptomatic diabetes, 40% to 60% of those individuals will be diagnosed with DKA [diabetic ketoacidosis]. That’s difficult at the time, but it also has long-term metabolic consequences for individuals. We’ve been able to document that individuals who had DKA diagnosis have more issues with hypoglycemia and hyperglycemia over time. I used to think that was because they were identified later in the course of diabetes, but there’s that metabolic memory around having had DKA. For our children, there are neurocognitive complications related to the DKA.

Steve Edelman, MD: Except for us 3.

Linda A. DiMeglio, MD: Your cognition is amazing.

Steve Edelman, MD: Despite it all. That’s interesting, this whole metabolic memory. We even differentiate mild and severe DKA with elevated A1C [glycated hemoglobin] later. There are many things we don’t know. Schafer, were you going to say anything on that?

Schafer Boeder, MD: As adult endocrinologists, we don’t experience that quite as much. But patients come in with DKA, and that’s their initial presentation. I also work on the inpatient side as a diabetes doctor. I see a lot of DKA. We occasionally forget that it’s not a benign occurrence. Survival rates are quite good, although you can die from DKA. It’s very dangerous to have, and it’s not good for the body, metabolism, or organs. It’s something to be avoided if we can.

Linda A. DiMeglio, MD: I want to add 1 thing that’s important around early diagnosis: if we can identify patients early, we can also get them into trials and learn more about the development of diabetes. At any given time, there are always open research studies looking at patients with presymptomatic type 1 diabetes. So, it’s also important to consider the benefits of knowing prior to symptomatic disease.

Egils K. Bogdanovics, MD: You probably see in your practice that when a family has 1 individual with type 1 diabetes, the second 1 is diagnosed much earlier.

Linda A. DiMeglio, MD: Usually, yes.

Egils K. Bogdanovics, MD: Not in DKA.

Linda A. DiMeglio, MD: It’s a bad sign. Yes.

Egils K. Bogdanovics, MD: It’s a bad sign.

Steve Edelman, MD: Well, the second 1 never gets anything good to eat. I’ve had family members who they take away all sweets, like the Trix cereal. Individuals think I got type 1 diabetes because I love Trix cereal, but sugar does not cause diabetes. What about you, Justin? Among the 3 of us who have type 1 diabetes, earlier diagnosis and being prepared are important. We’ll talk about the importance of screening and how that can help…. How old were you when you got diagnosed?

Justin M. Gregory, MD, MSC: I was 19, and I didn’t have family members with type 1 diabetes. I didn’t know anyone who did. In my case, that led to a very delayed diagnosis, so I was in the hospital for quite some time dealing with that. It’s a different thing for first-degree family members because oftentimes, when you have a first-degree family member who has it, unless you want to be in willful ignorance when you start waking up 2 or 3 times a night to pee, your threshold to get that glucose check is a lot smaller. Where the rubber meets the road is that some families have been hesitant to do antibody screening. They’re thinking, “I know the symptoms.” If there aren’t any interventions, then individuals feel like they have this sword of Damocles hanging over them and their children. Thankfully, we live in an era where that dynamic is changing as immunotherapy comes to fruition.

Steve Edelman, MD: In the old days, when my children were younger, I had them tested for the antibodies, but I was unusual. I didn’t want to put them in any trial. I just wanted to know because there wasn’t anything that I would even do myself if I was trying to prevent type 1. But times have changed.

Egils K. Bogdanovics, MD: My kids were in the DPT-1 [Diabetes Prevention Trial of Type 1 Diabetes], and I got a lot of heat from my colleagues, who said, “What are you going to do about it?” There’s nothing you can do about it. After oral insulin didn’t work, 1 thing that’s for sure with antibodies is that we know who’s at risk. Being prepared for it is a reason to do it.

Transcript edited for clarity

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