Related Experiment Video
Updated: Jan 14, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Familial Hypercholesterolemia in Pediatric Patients With Type 1 Diabetes: Double Challenge for Diagnosis and
Marianne Becker1,2, Jantje Weiskorn3, Susanna Wiegand4
1Pediatric Endocrinology and Diabetology, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.
Insights
Familial hypercholesterolemia (FH) is prevalent in children with type 1 diabetes (T1D). Despite high cardiovascular risk, less than a third receive lipid-lowering therapy.
Area of Science:
- Pediatric Endocrinology
- Cardiovascular Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) and type 1 diabetes (T1D) are common genetic disorders.
- Both conditions significantly increase the risk of premature atherosclerosis and cardiovascular events.
- Inadequate treatment of FH and T1D exacerbates these risks, particularly in pediatric populations.
Purpose of the Study:
- To determine the prevalence of probable and possible familial hypercholesterolemia (FH) in children diagnosed with type 1 diabetes (T1D).
- To analyze the lipid-lowering therapy (LLT) uptake in pediatric T1D patients identified with probable or possible FH.
- To investigate the association of glycemic control (HbA1c) and body mass index (BMI) with FH in this cohort.
Main Methods:
- Retrospective cohort study utilizing the Diabetes Prospective Follow-Up registry.
- Analysis of data from 41,992 children with pediatric T1D across 384 European centers (2014-2023).
- Probable FH defined as LDL cholesterol >4.9 mmol/L (2× expected), possible FH as LDL cholesterol >4.1 to ≤4.9 mmol/L (2× expected).
Main Results:
- Prevalence of possible FH was 1.2% (416 children) and probable FH was 0.56% (195 children).
- Children with FH had higher BMI standard deviation scores and HbA1c levels compared to those without FH.
- Only 20% of possible FH and 29% of probable FH patients were receiving LLT.
Conclusions:
- The prevalence of probable FH is significant (1 in 215 children) among pediatric T1D patients.
- Genetic FH in T1D appears to be modified by elevated HbA1c and BMI.
- A substantial gap exists in LLT initiation for pediatric T1D patients with FH, despite their elevated cardiovascular risk.
Objective:
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).
Research Design And Methods:
This retrospective cohort study was based on the Diabetes Prospective Follow-Up registry, analyzing data of 41,992 children (2014-2023) with pediatric T1D from 384 European centers. Classification of probable FH was >2× LDL cholesterol (LDL-C) >4.9 mmol/L and of possible FH, >2× LDL-C >4.1 mmol/L and ≤4.9 mmol/L.
Results:
A total of 31,862 patients consistently had LDL-C <4.1 mmol/L, 416 (1.2%) had possible FH, and 195 (0.56%) had probable FH. Compared with the LDL-C <4.1 mmol/L cohort, the possible FH and probable FH groups had higher BMI standard deviation scores (0.73 and 0.55 vs. 0.27, P < 0.00001) and 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 2× >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 sex, and 1.47 (1.08-2.02) for BMI >70th percentile. In the possible FH and probable FH groups, 20% and 29% were receiving LTT, respectively.
Conclusions:
The prevalence of probable FH was high (1 in 215 children) 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 one-third receive LLT.
Related Concept Videos
01:22Diabetes Mellitus: Overview and Type I Subtype
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
01:22Diabetes Mellitus: Type 2 and Gestational
01:15Diabetes: Management and Pharmacotherapy
Insulin remains the cornerstone of treatment for most patients with type 1 and many...
01:15Diabetes: Symptoms, Diagnosis, and Complications
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests