Familial hypercholesterolemia in paediatric patients with type 1 diabetes - Double challenge for diagnosis and treatment.

<p dir="ltr">Objective</p><p dir="ltr">Familial hypercholesterolemia (FH) and Type 1 diabetes (T1D) are both common and, without adequate treatment, lead to premature atherosclerosis and cardiovascular events. We identified children with T1D and probable FH and analyzed their lipid lowering therapy (LLT).</p><p dir="ltr">Research Design and Methods</p><p dir="ltr">Retrospective cohort study based on the DPV (Diabetes Prospective Follow-up) registry, analyzing data of 41,992 children (2014-2023) with pediatric T1D from 384 European centers. Classification probable FH: >2x LDL cholesterol (LDL-C) >4.9 mmol/l; possible FH: >2x LDL-C >4.1 mmol/l and ≤4.9 mmol/l. </p><p dir="ltr">Results</p><p dir="ltr">31,862 patients consistently had LDL-C <4.1 mmol/l, 416 (1.2%) 2x LDL-C >4.1 mmol/l and ≤4.9 mmol/l; 195 (0.56%) 2x LDL-C >4.9 mmol/l. Compared to the LDL-C <4.1 mmol/l cohort, the possible FH and probable FH groups had higher BMI-SDS (0.73 and 0.55 vs. 0.27, p<0.00001), higher HbA1c (8.2% (66 mmol/mol) and 8.3% (67 mmol/l) vs. 7.5% (58 mmol/mol), p<0.00001) and were more often female (57% and 62% vs. 44%, p<0.00001). Odds ratios for LDL-C 2x>4.9 mmol/l were 3.85 (95%CI 2.6-5.7) for HbA1c >9% (>75 mmol/mol), 2.12 (1.48-3.04) for HbA1c 7.5-9% (58-75 mmol/mol), 2.10 (1.56-2.81) for female gender, 1.47 (1.08-2.02) for BMI >P70. In the possible FH group 20%, in the probable FH group 29% were on LTT.</p><p dir="ltr">Conclusions</p><p dir="ltr"> The prevalence of probable FH (LDL-C 2x>4.9 mmol/L) is high (1/215) in pediatric T1D. We assume that the majority are affected by genetic FH, modified by HbA1c and BMI. Despite the very high risk for premature atherosclerosis in patients with FH and T1D, only 1/3 receive LLT.</p><p><br></p>