Related Experiment Video
Updated: Dec 9, 2025
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Electronic health records to facilitate continuous detection of familial hypercholesterolemia
Shari Pepplinkhuizen1, Shirin Ibrahim2, Rutger Vink3
1Department of Cardiology, Northwest Clinics, Wilhelminalaan 12, 1815 JD, Alkmaar, the Netherlands.
Insights
Automated health record analysis significantly improves the identification of Familial Hypercholesterolemia (FH) patients by integrating LDL-cholesterol (LDL-C) and patient history. This method aids in diagnosing FH, a condition often underdiagnosed due to lipid-lowering therapy effects.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Medical Informatics
Background:
- Familial Hypercholesterolemia (FH) is an inherited disorder leading to high LDL-cholesterol (LDL-C) and increased coronary heart disease risk.
- Diagnosis often relies on the Dutch Lipid Clinic Network (DLCN) criteria.
- FH is frequently underdiagnosed, potentially due to challenges in interpreting LDL-C levels during lipid-lowering therapy (LLT).
Purpose of the Study:
- To evaluate the effectiveness of automated health record integration in identifying patients with Familial Hypercholesterolemia (FH).
- To assess if combining LDL-cholesterol (LDL-C) data with patient and family history improves FH case detection.
- To determine the utility of automated data analysis in overcoming diagnostic challenges posed by lipid-lowering therapy (LLT).
Main Methods:
- Inclusion of patients with LDL-C ≥6.5 mmol/l after correction for LLT.
- Exclusion of patients with a prior FH diagnosis.
- Analysis of DLCN criteria ≥6 points, incorporating corrected LDL-C, patient history, and family history data.
- Utilizing a daily automated routine for data integration and analysis.
Main Results:
- Out of 41,937 LDL-C measurements, 351 patients met the initial LDL-C criteria post-LLT correction.
- The number of patients meeting DLCN criteria ≥6 points increased from 9 to 95 after LLT correction, and to 127 with added patient/family history.
- Mean LDL-C levels before and after LLT correction were 4.69 ± 1.42 mmol/l and 8.16 ± 1.68 mmol/l, respectively (p < 0.001).
Conclusions:
- Automated integration of LDL-C, LLT, and patient/family history data provides a crucial signal for FH identification.
- This automated approach can help overcome underdiagnosis of FH.
- Further research is needed to confirm genetic identification of FH patients and their relatives based on this signal.
Background And Aims:
Familial hypercholesterolemia (FH) is an inherited disorder associated with increased risk of coronary heart disease as a result of high LDL-cholesterol (LDL-C). The clinical diagnosis can be made with the Dutch Lipid Clinic Network criteria (DLCN criteria). FH is an underdiagnosed disorder, possibly due to false negative LDL-C interpretation during lipid lowering therapy (LLT). We hypothesized that automated health record-based integration of data can provide a signal to facilitate identification of FH patients.
Methods:
We included patients with LDL-C ≥6.5 mmol/l after correction for LLT in all patients testing LDL-C in Northwest Clinics, The Netherlands. Patients previously diagnosed with FH were excluded. The primary endpoint was the additional number of patients with DLCN criteria ≥6 points after correction for LLT. Secondary endpoints were the additional number of patients with DLCN criteria ≥6 points after also adding data on patient- and family history, and LDL-C before and after correction for LLT. Analysis was performed in a daily automated routine (HiX ChipSoft).
Results:
In a total of 41,937 individual LDL-C measurements during 26 weeks, we found 351 patients with LDL-C ≥6.5 mmol/l after automated correction for LLT. FH had previously been diagnosed in 42 patients. In the remaining 309 patients (58.3% female; age: 66 ± 11 yrs (mean ± SD); 85.8% on LLT), the number of patients with DLCN criteria ≥6 points increased from 9 to 95 after correction for LLT, and to 127 after also adding patient and family history. The mean LDL-C before and after correction for LLT was 4.69 ± 1.42 mmol/l and 8.16 ± 1.68 mmol/l, respectively (mean ± SD; p < 0.001).
Conclusions:
We conclude that automated medical record-based integration of LDL-C, LLT and patient- and family history can provide a crucial signal to facilitate identification of FH. Whether this signal results in subsequent genetic identification of FH patients and their relatives requires further study.
Related Concept Videos
01:19Purpose of Health Records II
01:30Methods of Documentation VII: EMR
01:26Atherosclerosis III: Management
01:29Cholesterol: Significance and Regulation
Considering cholesterol and...
01:30Pulse rhythm
Conversely, an irregular pulse pattern is termed dysrhythmia, stemming from disruptions in cardiac...
01:11Purpose of Health Records I
Here's a breakdown of how health records serve these purposes: