Author(s): Lim J.Z.; Mon A.; Brown E.; Alam U.; Wilding J.P.
Source: Diabetic Medicine; Mar 2019; vol. 36 ; p. 140
Publication Date: Mar 2019
Publication Type(s): Conference Abstract
Available at Diabetic Medicine – from Wiley Online Library Full Collection
Abstract:Introduction: Rare phenotype of severe insulin resistance, childhood obesity and neuropsychiatric disorders may run in certain families due to genetic traits that may yet remain undiagnosed. However, individuals with severe insulin resistance pose unique therapeutic challenges and often provides important novel information with insights relevant to the pathophysiology of diabetes. We summarise our 6year experience of managing two siblings with familialsevereinsulinresistanceandchildhoodobesity,withcomplex multifactorial challenges and transition to adult diabetes clinic. Case report: Patient A: 22year old female diagnosed with autism, dyspraxia, chronic fatigue syndrome and learning disability. Severe insulin resistance was diagnosed at age 15, C-peptide 1,764pmol/l; OGTT fasting glucose 5.5 rising to 7.0mmol/l; HBA1C BMI 35.9kg/m2. Since starting metformin, she has lost 4kg (4.3%) in weight over 12months. Patient B: 23year old male, brother to patient A, diagnosed severe insulin resistance at age 16, autistic spectrum disorder and developmental coordination delay. The C-peptide was 2,108pmol/l; OGTT fasting glucose 5.1 rising to 6.4mmol/l; HBA1C 35mmol/mol; BMI 39.5kg/m2. Both patients had normal thyroid function, lipid and cholesterol levels. He managed to lose up to 5kg (4%) whilst on metformin & maintaining lifestyle changes. Conclusion(s): Both patients have been referred to the genetics of obesity study (GOOS); so far genetic sequencing and analysis have not identified a causative gene. Insulin sensitivity is higher with metformin, and combined with lifestyle intervention may positively influence glycaemic control and produce additional weight loss of between 2-4% initial body weights in severe insulin resistance.