In the intricate landscape of genetic disorders, Familial Hypercholesterolemia (FH) stands out due to its significant impact on cardiovascular health. This condition, primarily caused by mutations in the LDL receptor gene (LDLR), leads to elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood, increasing the risk of heart disease. However, recent studies have illuminated the role of the EPHX2 gene as a potential modifier of FH, particularly in individuals with LDLR defects. DNA Labs UAE, a leading genetic testing facility, now offers a comprehensive genetic test to analyze the EPHX2 gene, providing invaluable insights into this complex interaction and its implications for individuals with FH.
Symptoms of EPHX2 Gene Hypercholesterolemia Familial Due to LDLR Defect
The symptoms of Familial Hypercholesterolemia due to LDLR defects, modified by the EPHX2 gene, can vary significantly among individuals. However, some common manifestations include:
- Elevated LDL-C Levels: The hallmark of FH, high levels of LDL-C, also known as “bad” cholesterol, can be further exacerbated by the EPHX2 gene modification.
- Xanthomas: Fatty deposits under the skin, particularly around the eyes, elbows, knees, and buttocks, are a visible sign of elevated cholesterol levels.
- Corneal Arcus: A gray or white arc visible above the outer part of the cornea, common in older adults, but when present in individuals under the age of 45, it may indicate high cholesterol.
- Chest Pain: Individuals with FH may experience angina, a type of chest pain caused by reduced blood flow to the heart muscle, due to the narrowing of coronary arteries by cholesterol deposits.
- Heart Attack at an Early Age: The severe and early onset of coronary artery disease in FH patients can lead to heart attacks at younger ages than the general population.
Given these symptoms and the potential severity of FH, it is crucial for individuals with a family history of high cholesterol or early heart disease to consider genetic testing. The EPHX2 gene test offered by DNA Labs UAE not only identifies the presence of mutations that may influence cholesterol levels but also provides a comprehensive understanding of how these genetic factors may interact with LDLR defects, affecting the overall risk and management strategies for FH.
Cost and Availability of the Test
The cost of the EPHX2 gene test at DNA Labs UAE is 4400 AED. This test is a vital resource for individuals seeking to understand their genetic predisposition to FH and its potential modifiers. Early detection and intervention can significantly alter the course of the disease, reducing the risk of heart disease and improving quality of life.
For more information on the EPHX2 gene hypercholesterolemia familial due to LDLR defect modifier of genetic test and to schedule your test, please visit DNA Labs UAE.
In conclusion, understanding the genetic underpinnings of Familial Hypercholesterolemia, particularly the role of the EPHX2 gene as a modifier in the presence of LDLR defects, is crucial for effective management and treatment. DNA Labs UAE stands at the forefront of this endeavor, offering comprehensive genetic testing to unravel these complex genetic interactions. With the right knowledge and resources, individuals at risk can take proactive steps towards managing their cholesterol levels and safeguarding their heart health.
