CETpD

CETpD or Cholesteryl Ester Transfer Protein Deficiency is a rare genetic disorder characterized by significantly reduced levels of cholesteryl ester transfer protein (CETP). CETP is a plasma protein that plays a crucial role in the reverse transport of cholesterol from peripheral tissues to the liver.

Overview

CETpD is caused by mutations in the CETP gene, which leads to a decrease or absence of CETP activity. This results in an abnormal accumulation of high-density lipoprotein (HDL) cholesterol, also known as "good cholesterol", and a decrease in low-density lipoprotein (LDL) cholesterol, or "bad cholesterol". Despite the high levels of HDL cholesterol, individuals with CETpD are at an increased risk of developing atherosclerosis and coronary heart disease due to the impaired reverse cholesterol transport.

Symptoms

The symptoms of CETpD can vary greatly among individuals. Some may remain asymptomatic, while others may develop signs of premature atherosclerosis, such as chest pain, shortness of breath, and fatigue. In severe cases, CETpD can lead to life-threatening conditions like heart attack and stroke.

Diagnosis

Diagnosis of CETpD is based on the clinical symptoms, family history, and laboratory tests. Genetic testing can confirm the diagnosis by identifying mutations in the CETP gene.

Treatment

There is currently no cure for CETpD. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, such as a healthy diet and regular exercise, and medications to control cholesterol levels.

Research

Research is ongoing to develop new treatments for CETpD. One promising approach is the use of CETP inhibitors, which are designed to increase HDL cholesterol levels and decrease LDL cholesterol levels. However, more research is needed to determine the long-term safety and effectiveness of these drugs.

External links

• PubMed Health
• Genetics Home Reference
• National Organization for Rare Disorders (NORD)