Poster 15: Revisiting the “Type of Diabetes” in genetically susceptible patients

Chohan, Muhammad Tahir; Abouzaid, Mona; Aggarwal, Naveen
University Hospital North Tees
 

Introduction: Maturity Onset Diabetes of Young (MODY), an autosomal condition accounting for 1-2% of all diabetes usually presents in second to fourth decade. There are various subtypes of MODY with HNF1 alpha (MODY 3) being the most common of all (30-70%).

Case Report: Middle aged female, initially diagnosed as DM type1 in 1991 during her early teens due to osmotic symptoms and BMI of 19kg/m2 when diabetes autoantibodies testing and genetic analysis for MODY was not available, treated with basal bolus insulin regime requiring only 16 units total daily dose with tight glycaemic control (HbA1c between 2.5 – 4.5%) and intermittent hypoglycaemic episodes for 14 years. Given her strong family history of insulin dependent diabetes in early age (mother and grandmother, who later genetically confirmed MODY3), she was genetically screened for MODY in 2006 and confirmed to have MODY3, therefore her insulin was stopped and she was started initially on metformin followed by gliclazide which resulted in excellent glycaemic control without hypoglycaemic episodes and better quality of life (QoL). She has remained stable on oral diabetic medications for more than 15 years without any complications.

Learning points:

  • More than 2/3rd cases of MODY are initially misdiagnosed as either Type 1 or Type 2 DM.
  • Revisiting the type of diabetes in patient with strong family history of MODY can save patients from unnecessary insulin treatment, hypoglycaemic episodes, social, financial, professional and insurance implications besides improving QoL.
  • This will also reduce burden on health resources due to reduced screening and follow up appointments.
Discipline: 
Diabetes
Clinical taxonomy: 
Type 1 diabetes mellitus
Type 2 diabetes mellitus
Resource taxonomy: 
Event resources
Abstracts

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