Placing newborns in prospective studies to conduct genetic screenings with follow up may reduce the risk of DKA at diagnosis of type 1.
Children, particularly those under the age of 5, are at the highest risk of experiencing Diabetic Ketoacidosis (DKA) at diagnosis of type 1 diabetes. This may be due to a delay in diagnosis by lack of knowledge of initial symptoms from parents or a misdiagnosis by clinicians with concurrent health issues. Currently, there are mixed data indicating whether DKA is increasing or decreasing in frequency. However, prior studies have shown that providing education on the initial symptoms of type 1 diabetes has shown to reduce the incidence of DKA at diagnosis. This can be seen in children with first-degree relatives who are more knowledgeable in the disease and can recognize initial symptoms. It is also seen in children enrolled in prospective studies for genetic testing of the disease and participating in follow ups. Oulu University Hospital in Finland have ongoing prospective studies since 1995. They have been genetically testing all newborn infants for HLA-conferred susceptibility of type 1 diabetes.
One study hypothesized a decreased risk of DKA in children at diagnosis with type 1 diabetes who participated in prospective studies. Therefore, researchers conducted two study cohorts focusing information gathered by the prospective studies in Oulu University Hospital in Finland. A total of 1,164 patients were evaluated with an overlap of 485 children. Study cohort 1 had a sample size of 517 children. It included all children born in 1995-2012 with a diagnosis of type 1 diabetes by the end of 2014. Study cohort 2 had a sample size of 579. It included all children diagnosed with type 1 diabetes in 2002-2014. Study cohort 1 was divided into 4 subgroups:
- Children who did not have an HLA-screening
- Children who were screened but had no HLA conferred risk
- Children who were screened and found to have conferred risk but did not participate in a follow up
- Children who were screened and found to have conferred risk and participated in follow ups
Study cohort 2 was divided into three age brackets: children ages 0-5 years, children ages 5-9 years, or children ages 10-14 years. Researchers gathered information of these diagnosis regarding lab values indicating DKA as well as the duration of symptoms preceding their diagnosis.
Student 2-tailed t tests, Mann-Whitney U tests and Kruskal-Wallis tests were conducted to analyze the data. Study cohort 1 revealed that there was less frequency of DKA at the time of diagnosis in patients with conferred risk and participated in follow ups (p < 0.001). Study cohort 2 indicated that the frequency of DKA at diagnosis increased in the age brackets (13% in children <5 years old, 14% in children 5-9 years old, 28.6% in children 10-14 years old; p < 0.001). It is important to note that although participating in progressive studies that provide genetic testing and follow-ups has shown to decrease the incidence of DKA at diagnosis, genetic testing alone does not decrease the incidence of DKA at diagnosis. In fact, the results indicated that DKA was highest in children who did not have HLA conferred risk. This may be due to parents mistakenly assuming their child cannot develop type 1 diabetes following genetic testing. It is imperative for clinicians to properly educate their patients on the results of genetic testing.
The results of this study indicate a need for educating the general population on type 1 diabetes. This can lead to faster diagnosis with the recognition of initial symptoms. This can also lead to a decrease in incidence of DKA at diagnosis.
- Patient education on initial signs and symptoms of type 1 diabetes may reduce the risk of DKA at disease diagnosis.
- Genetic testing alone does not decrease the incidence of DKA, nor does it ensure the prevention of type 1 diabetes.
- Adolescents may be at a greater risk of developing DKA at diagnosis.
Hekkala A, Ilonen J, Toppari J, et al. Ketoacidosis at diagnosis of type 1 diabetes: Effect of prospective studies with newborn genetic screening and follow up of risk children. Pediatric Diabetes. 2017. Epub 2017/04/24. doi: 10.1111/pedi.12541
Joanna Martinez-Mendez, PharmD Candidate 2018, Lake Erie College of Osteopathic Medicine School of Pharmacy: FL Campus