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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a
Liv Mundal1, Marit B Veierød2,3, Thomas Halvorsen4
11 The Lipid Clinic, Oslo University Hospital Rikshospitalet, Norway.
Insights
Familial hypercholesterolaemia patients experience cardiovascular disease hospitalizations around age 45, with no sex differences in age. However, diagnosis registration during hospital stays was notably low.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) significantly elevates cardiovascular disease (CVD) risk.
- Understanding sex-based differences in CVD incidence and prevalence among FH patients is crucial for targeted interventions.
Purpose of the Study:
- To investigate sex differences in CVD hospitalisation incidence and prevalence within a comprehensive cohort of genotyped FH patients.
- To identify the age of first hospitalisation and re-hospitalisation for CVD in FH patients.
Main Methods:
- A Norwegian registry study linked data from 5538 genotyped FH patients.
- Patient hospitalisation data for CVD and other conditions were analyzed from 1994-2009.
Main Results:
- Ischaemic heart disease accounted for 90% of CVD hospitalisations in FH patients.
- The mean age at first hospitalisation was 45.1 years, with no significant sex difference.
- Men (26.9%) had a higher hospitalisation rate than women (24.1%) (P=0.02).
- FH diagnosis was registered in only 45.7% of patients upon discharge.
Conclusions:
- CVD hospitalisations in FH patients primarily stem from ischaemic heart disease.
- FH patients are hospitalised around age 45, irrespective of sex, a novel finding.
- Low awareness and registration of FH diagnosis during hospitalisation highlight a critical gap in patient care.
Abstract:
Background Familial hypercholesterolaemia increases the risk for cardiovascular disease. The primary aim of the present study was to describe sex differences in incidence and prevalence of cardiovascular disease leading to hospitalisation in a complete cohort of genotyped familial hypercholesterolaemia patients. Design and methods In this registry study data on 5538 patients with verified genotyped familial hypercholesterolaemia were linked to data on all Norwegian cardiovascular disease hospitalisations, and hospitalisations due to pre-eclampsia/eclampsia, congenital heart defects and diabetes. Results During 1994-2009 a total of 1411 of familial hypercholesterolaemia patients were hospitalised, and ischaemic heart disease was reported in 90% of them. Mean (SD) age at first hospitalisation and first re-hospitalisation was 45.1 (16.5) and 47.6 (16.3) years, respectively, with no sex differences ( P = 0.66 and P = 0.93, respectively). More men (26.9%) than women (24.1%) with familial hypercholesterolaemia were hospitalised ( P = 0.02). The median (25th-75th percentile) number of hospital admissions was four (two to seven) per familial hypercholesterolaemia patient, with no sex differences ( P = 0.87). Despite having familial hypercholesterolaemia at the time of hospitalisation, the diagnosis of familial hypercholesterolaemia was registered in only 45.7% of the patients at discharge. Conclusion Most cardiovascular disease hospitalisations were due to ischaemic heart disease. Familial hypercholesterolaemia patients were first time hospitalised at age 45.1 years, with no significant sex differences in age, which are important novel findings. The awareness and registration of the familial hypercholesterolaemia diagnosis during the hospital stays were disturbingly low.
