Introduction: Diabetes type 1 (DM1) in children can result in lipid disorders due to insulin deficiency. Familial hypercholesterolaemia (FH) is a very common monogenic disorder with occurrence of 1:250 and it may lead to development of cardiovascular disease (CAD) in a very young age.
Case report: Female patient with diabetes diagnosed at the age of 5, was referred to joint diabetes and lipid clinic due to high levels of cholesterol. At the diagnosis of diabetes her total cholesterol (TC) level was 280 mg/dl, LDL cholesterol (LDL-C) of 201 mg/dl, normal HDL and triglycerides, her HbA1c was 9.5 % then. Ater 6 months in follow up in outpatient clinic her HbA1c was 7.5%, TC was 265 mg/dl and LDL-C was 191 mg/dl. Treatment with personal insulin pump was started at the age of 5.5 years to improve diabetes control. After 1 year from the diagnosis her diabetes metabolic control was good (HbA1c: 6.7 %) and lipids level again very high (TC 260mg/dl, LDL-C 190 mg/dl). As lipid profile did not improve patient was referred for genetic testing of LDLR, APOB and PCSK9 genes. In patient's family history her grandfather from mother side had cardiovascular disease diagnosed at the age of 45 years. Patient's mother had not had lipid profile done in her life yet, so it was checked and TC and LDL-C was high as well. Patient was diagnosed with familial hypercholesterolaemia due to mutation in LDL-R gene inherited from mother. As familial hypercholesterolaemia was confirmed and her cholesterol levels remained high, therapy with statin was implemented at the age of 7 years. After 6 month of treatment lipid profile became normal, patient did not report any adverse events. She is followed up in lipid clinic every year and all clinical and biochemical parameters are normal. Patient's mother was referred do Adult Cardiology Clinic.
Conclusions: Diabetes teams should remember that not only diabetes and poor metabolic control can result in lipid disorders in diabetic patients. It is important to diagnose and treat FH as early as possible to reduce risk of CAD especially in diabetic patients.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology