hülipoproteineemia

Hülipoproteineemia refers to a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol in the blood. HDL, often called "good cholesterol," plays a crucial role in transporting excess cholesterol from the body's tissues back to the liver for processing and elimination. In individuals with hülipoproteineemia, this essential process is severely impaired, leading to a buildup of cholesterol in various parts of the body.

The condition is primarily caused by mutations in specific genes that are critical for the synthesis and function of HDL particles. These genetic defects disrupt the normal production or metabolism of apolipoprotein A-I (apoA-I), a key protein component of HDL. As a result, the body is unable to effectively assemble or maintain adequate levels of functional HDL.

Hülipoproteineemia is often asymptomatic in its early stages, but as cholesterol accumulates, individuals may develop characteristic xanthomas, which are yellowish deposits of cholesterol under the skin, particularly around the eyes (xanthelasma) and in tendons and joints (tendinous and tuberous xanthomas). Cardiovascular disease, including premature atherosclerosis and heart attacks, is a significant concern due to the impaired cholesterol clearance. Diagnosis is typically made through blood tests that reveal very low HDL cholesterol levels, often below 10 mg/dL, in conjunction with genetic testing to identify the causative mutations. Treatment strategies focus on managing cardiovascular risk factors and may involve lifestyle modifications and medications, although there is no specific cure for the underlying genetic defect.