Making an aetiological diagnosis in diabetes: How and why?

As health professionals we are increasingly being exposed to diabetes being diagnosed in young adults - largely due to the well-documented rise in multifactorial type 2 diabetes. At the same time, there is also a greater understanding of rare inherited causes of diabetes, which also tend to arise in young adults. Healthcare professionals are often unfamiliar with the key characteristics of rare forms of diabetes so making a correct aetiological diagnosis can be difficult; but it is important to do so for optimal management and advice to family members (Shepherd et al, 2001; Hattersley and Pearson, 2006). The potential of stopping assumed lifelong insulin treatment is the most far-reaching of the possibilities associated with identifying cases of Maturity-Onset Diabetes of the Young (MODY). This article focuses on the features of MODY and how primary care health professionals may distinguish this from the more common forms of diabetes they see.