LDLRAD1
LDL Receptor Deficiency
Description
LDL receptor deficiency is a rare genetic disorder that affects the body‘s ability to remove low-density lipoprotein (LDL) cholesterol from the blood. LDL cholesterol is known as the "bad" cholesterol and high levels can contribute to the buildup of plaque in the arteries, increasing the risk of heart disease and stroke.
In LDL receptor deficiency, the liver is unable to properly bind to and remove LDL cholesterol from the bloodstream. This results in a buildup of LDL cholesterol, which can lead to the development of xanthomas (yellowish deposits of cholesterol on or around tendons and joints), xanthelasma (fatty deposits around the eyes), and premature cardiovascular disease.
Associated Diseases
- Familial hypercholesterolemia: This is an inherited form of LDL receptor deficiency that can lead to very high levels of LDL cholesterol and a greatly increased risk of heart disease.
- Coronary artery disease: Buildup of plaque in the coronary arteries can lead to angina (chest pain), heart attack, and sudden cardiac death.
- Stroke: Plaque buildup in the arteries that supply blood to the brain can lead to a stroke.
- Peripheral artery disease: Plaque buildup in the arteries that supply blood to the arms and legs can lead to pain, cramping, and tissue damage.
Did you Know ?
Less than 1 in 500,000 people are affected by LDL receptor deficiency worldwide. However, it is the most common cause of familial hypercholesterolemia, which affects approximately 1 in 200 people.
