Familial hypercholesterolemia (FH) is a hereditary genetic disorder. Our company is dedicated to advancing the field of FH diagnosis through cutting-edge technologies and tailored solutions. By developing innovative IVD reagents/kits and compact diagnostic devices, our aim is to address the complexity of FH pathogenesis and diagnostic challenges, fundamentally transforming the detection and management of this genetic disorder.
Overview of Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) stands as a significant genetic disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol, predisposing individuals to premature cardiovascular diseases. The prevalence of Familial Hypercholesterolemia (FH) is estimated to be approximately 1 in 250 individuals in the general population. This hereditary condition poses a substantial risk, emphasizing the importance of early diagnosis and intervention.
Fig. 1 The pathogenesis of familial hypercholesterolemia (FH) is shown in the figure. (Mabuchi, Hiroshi., 2017)
Disease Mechanism of Familial Hypercholesterolemia
The pathogenesis of familial hypercholesterolemia (FH) is complex and is primarily related to genetic mutations that affect low-density lipoprotein (LDL) cholesterol metabolism. Understanding the pathogenesis of FH is important for developing innovative diagnostic tools and methods for FH.
Inheritance
FH is primarily caused by mutations in genes responsible for LDL receptor function, such as the LDLR gene or the APOB gene. These mutations disrupt the normal process of LDL cholesterol clearance from the bloodstream, resulting in the accumulation of LDL particles.
Impaired LDL Clearance
Dysfunctional LDL receptors are unable to effectively clear LDL cholesterol from the blood, leading to elevated blood levels of LDL cholesterol, a hallmark of FH. As a result, LDL particles circulate in the blood for a long time, increasing their likelihood of depositing on artery walls.
IVD Products for Familial Hypercholesterolemia
In vitro diagnostic approaches play a crucial role in identifying individuals with familial hypercholesterolemia (FH). Commonly used methods for diagnosing FH include blood lipid testing, genetic testing, and biomarker analysis. Currently, there are a variety of diagnostic reagents/kits on the market that can be used to diagnose FH. The following table shows some typical examples.
| Product Name |
Uses |
Techniques |
| Cholesterol Test Kits |
These kits quantify total cholesterol, LDL-C, HDL-C, and triglyceride levels in blood samples. |
Lipid profile testing |
| FH Genetic Testing Kits |
These kits are designed to detect mutations in genes associated with FH, such as LDLR, APOB, and PCSK9. |
PCR and DNA sequencing |
| High-Sensitivity C-Reactive Protein (hs-CRP) Test Kits |
These kits measure levels of the inflammatory marker hs-CRP in blood samples. hs-CRP can be used as a biomarker to assess the inflammatory process in individuals with FH. |
ELISA |
Our Services
Specializing in tailored in vitro diagnostic (IVD) solutions for rare genetic disorders like familial hypercholesterolemia (FH), our company is dedicated to creating custom gene testing kits that precisely detect abnormal mutations in alignment with the FH pathogenesis. We also contribute to the development of cholesterol test kits and high-sensitivity C-reactive protein (hs-CRP) detection kits for monitoring metabolic biomarkers associated with FH. By developing complementary diagnostic devices, our goal is to enhance the efficiency and automation of FH diagnosis.
Our IVD Product Development Services
Optional Test Genes
We also provide point-of-care diagnostics and companion diagnostics development services for familial hypercholesterolemia (FH). These services enable rapid detection of biomarkers associated with FH, facilitating early diagnosis and personalized therapeutic strategies tailored to individuals with FH.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Mabuchi, Hiroshi. "Half a century tales of familial hypercholesterolemia (FH) in Japan." Journal of atherosclerosis and thrombosis 24.3 (2017): 189-207.
- Civeira, Fernando, and International Panel on Management of Familial Hypercholesterolemia. "Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia." Atherosclerosis 173.1 (2004): 55-68.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
