SAT-585 Largest cohort study a rare type of Diabetes: Mitochondrial Diabetes

Abstract Disclosure: L.J. Plaza Enriquez: None. R. ibrahim: None. L. Ayari: None. R. Gavrilova: None. Y. Kudva: None. Introduction: Mitochondrial diabetes(mtDB) is a rare disease; hence its prevalence and associated comorbidities are not well defined. The aim of this study is to describe prevalence, glycemic control, treatment used for diabetes and comorbidities associated with this condition using a Mayo Clinic cohort of patients with mitochondrial mutations. Methods: We identified 23 patients with diabetes from an institutional cohort of patients with, mitochondrial mutations. Genetic mutations included the classic MTTL1 m.3243A>G in 22 of the patients and MTND5m.13513G>A in one patient. Statistical analysis was performed using BlueSky Statistics version 10.3.4 software. Categorical variables were compared using Fisher’s exact test and continuous variables were compared using ANOVA. Kaplan Meier survival curves were created. Unless otherwise stated, value of p of <0.05 was considered significant. Results: The cohort consisted of predominantly females (14 vs 9). The mean age at initial diabetes diagnosis was 39.5 years (CI: 30.6–48.4) for females and 32.0 years (CI: 20.9–43.1) for males (p = 0.253). Over 75% of patients were initially diagnosed with type 2 diabetes (T2D). The mean age at mtDB diagnosis was 51.7 years (SD 11.9) for females and 46.0 years (SD 8.5) for males, reflecting a >15-year gap between T2D and mtDB diagnosis. The mean BMI at initial diagnosis was similar between males and females (26.0 (CI: -8.4, 60.4)), though it was higher than the average reported in the literature. Most patients had multiple comorbidities associated with mtDB, including retinopathy, macular defects, cerebrovascular disease, CVD, arrhythmias, nephropathy, and gastrointestinal conditions. Retinopathy and macular defects typically developed within 5-10 years of diabetes diagnosis, while cerebrovascular disease and CVD had a later onset, at a mean of 8.25 years (SD = 6.76) and 5.0 years (SD = 5.75), respectively. However, the difference in onset times between these comorbidities was not statistically significant (p = 0.3228).Regarding glycemic control, there was no significant difference in HbA1c levels at diagnosis or later (HbA1c < 8% in >90% of the cohort). Various treatment modalities (13 on insulin therapy vs 10 on non-insulin treatments) did not show significant differences in glycemic control (p = 0.463), with mean HbA1c of 6.59 (SD 1.36). Mortality rates increased 10-15 years after initial diagnosis of mtDB, with 3 patients dying from complications related to the mitochondrial disorder. Conclusion: mtDB is associated with significant comorbidities/complications that developed earlier compared to T2D or even T1D from the literature. Initial misdiagnosis of this condition as T2D remains high. Different treatment modalities (insulin vs non-insulin) did not differ in glycemic control hence consideration as first options of treatment should be given to oral hypoglycemics. Presentation: Saturday, July 12, 2025