Apolipoprotein C-II deficiency

= Apolipoprotein C-II Deficiency = Apolipoprotein C-II deficiency is a rare genetic disorder that affects lipid metabolism, leading to elevated levels of triglycerides in the blood. This condition is characterized by the body's inability to properly break down fats, resulting in a variety of symptoms and potential complications.

Overview

Apolipoprotein C-II (ApoC-II) is a protein that plays a crucial role in the metabolism of lipids. It acts as a cofactor for the enzyme lipoprotein lipase (LPL), which is responsible for the hydrolysis of triglycerides in chylomicrons and very low-density lipoproteins (VLDL). In individuals with ApoC-II deficiency, the activity of LPL is impaired, leading to hypertriglyceridemia.

Genetics

Apolipoprotein C-II deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The gene responsible for ApoC-II is located on chromosome 19.

Symptoms

The symptoms of ApoC-II deficiency can vary but often include:

• Severe hypertriglyceridemia
• Recurrent episodes of pancreatitis
• Hepatosplenomegaly
• Xanthomas, which are fatty deposits that develop under the skin

Diagnosis

Diagnosis of ApoC-II deficiency is typically based on clinical evaluation, family history, and laboratory tests. Key diagnostic tests include:

• Measurement of plasma triglyceride levels
• Genetic testing to identify mutations in the APOC2 gene
• Lipoprotein lipase activity assays

Treatment

Management of ApoC-II deficiency focuses on reducing triglyceride levels to prevent complications. Treatment options may include:

• Dietary modifications, such as a low-fat diet
• Medications like fibrates or omega-3 fatty acids
• In some cases, plasmapheresis may be used to rapidly lower triglyceride levels

Prognosis

With appropriate management, individuals with ApoC-II deficiency can lead relatively normal lives. However, without treatment, the risk of pancreatitis and other complications remains high.

Research

Ongoing research is focused on better understanding the genetic basis of ApoC-II deficiency and developing more effective treatments. Gene therapy and novel pharmacological approaches are areas of active investigation.

See Also

• Lipoprotein lipase deficiency
• Hyperlipidemia
• Genetic disorders

External Links

• National Organization for Rare Disorders
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on Apolipoprotein C-II deficiency

Apolipoprotein C-II deficiency is a rare disease.