Black Children at Risk of Misdiagnosis Due to Undiscovered Diabetes Subtype

Researchers have detected a previously unrecognized diabetes in children and young adults in Sub-Saharan Africa, highlighting the risk that many patients may not be receiving the most effective treatment.

The study, published in The Lancet Diabetes & Endocrinology with funding from the UK’s National Institute for Health and Care Research (NIHR), brings a significant shift to global perceptions of diabetes in youth.

Many patients across the continent and possibly beyond may face the necessity of updating their diagnosis to gain access to the most suitable treatment.

A large-scale study conducted in the region revealed that roughly two-thirds (65%) of young patients originally diagnosed with type 1 diabetes did not show the standard features of the disease, including evidence of the immune system attacking the pancreas (autoimmunity) and genetic susceptibility.

Instead, they appear to have a novel, non-autoimmune subtype, not captured by current global classifications.

Nine million people have type 1 diabetes

Type 1 diabetes affects an estimated nine million people worldwide. This autoimmune disorder causes the immune system to target and destroy insulin-producing cells in the pancreas, leading to chronic health challenges.

In 2023, doctors diagnosed non-Hispanic Black or African American adults with diabetes 1.4 times more often than non-Hispanic white adults.

Results published in the Journal of Clinical Endocrinology and Metabolism showed that Black/African American individuals have an increased risk for severe insulin-deficient diabetes, a subtype of Type 2 diabetes.

Socioeconomic factors including food insecurity (limited access to healthy, protein-rich, low-sugar, and low-fat meals) and economic disparities (such as restricted access to physical activity and wellness centers) create biological differences, suggested by studies showing an increase of insulin-resistance and obesity.

The Office of Minority Health (OMH) reports that in 2018, African American adults were 60% more likely to be diagnosed with diabetes than non-Hispanic white adults. Black adults are also almost two times as likely as white adults to develop type 2 diabetes, according to the National Institutes of Health.

Insulin controls blood sugar, and patients have to rely on insulin injections for this function, to avoid damaging and even deadly complications. Yet clinicians in parts of Africa had long suspected that some children diagnosed with type 1 diabetes did not quite fit the standard profile.

Study results challenge previous expertise

Professor Moffat Nyirenda, Director of the Medical Research Council / Uganda Virus Research Institute (MRC/UVRI) and the London School of Hygiene and Tropical Medicine Uganda Research Unit, said: “These findings are a wake-up call. They challenge our assumptions about type 1 diabetes and show that the disease may present differently in African children and adolescents. We urgently need to deepen our investigations into the biological and environmental factors driving this form of diabetes and ensure our diagnostic and treatment approaches are fit for purpose in African settings.”

The findings emerged from the Young-Onset Diabetes in Sub-Saharan Africa (YODA) study, involving nearly 900 participants across Cameroon, Uganda, and South Africa. The participants were all diagnosed with type 1 diabetes before the age of 30 years. 

The team analyzed over 3,000 children in the US-based SEARCH for Diabetes in Youth study to determine whether the new subtype appeared outside Africa. They found the subtype in a small number of Black American children but not in white participants, suggesting environmental or ancestral factors.

Dr. Jean Claude Katte, of the University of Exeter, and a Translational Fellow with the Exeter NIHR Biomedical Research Centre, said “Our next step is to investigate possible causes – ranging from infections and nutritional factors to environmental toxins. If we can find the cause, we may be able to prevent new cases and find new treatments.”