Heterozygous FH
Heterozygous FH, or heterozygous familial hypercholesterolemia, is a genetic condition that results in high levels of cholesterol in the blood. It occurs when a person inherits one copy of the faulty gene from one parent, leading to an increased risk of heart disease and other cardiovascular issues. Individuals with this condition often have cholesterol levels that are significantly higher than normal.
People with heterozygous FH may not show symptoms until later in life, but they can develop early signs of heart disease. Diagnosis typically involves blood tests to measure cholesterol levels and genetic testing to confirm the presence of the LDLR gene mutation. Early detection and treatment are crucial for managing the condition effectively.