Lipoprotein lipase deficiency, familial

Lipoprotein Lipase Deficiency, Familial

Lipoprotein lipase deficiency, familial, also known as familial chylomicronemia syndrome, is a rare genetic disorder characterized by the body's inability to break down fat molecules called triglycerides. This condition leads to the accumulation of chylomicrons in the blood, resulting in severe hypertriglyceridemia.

Pathophysiology

Lipoprotein lipase (LPL) is an enzyme crucial for the hydrolysis of triglycerides in chylomicrons and very low-density lipoproteins (VLDL) into free fatty acids and glycerol. In individuals with familial lipoprotein lipase deficiency, mutations in the LPL gene lead to a deficiency or dysfunction of the LPL enzyme. This results in the impaired clearance of triglyceride-rich lipoproteins from the bloodstream.

Genetics

Familial lipoprotein lipase deficiency is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disease. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Symptoms

The symptoms of familial lipoprotein lipase deficiency can vary but often include:

• Recurrent episodes of abdominal pain
• Pancreatitis
• Hepatosplenomegaly
• Eruptive xanthomas
• Lipemia retinalis

Diagnosis

Diagnosis is typically based on clinical presentation, family history, and laboratory tests showing elevated triglyceride levels. Genetic testing can confirm mutations in the LPL gene.

Treatment

Management of familial lipoprotein lipase deficiency focuses on dietary modifications to reduce triglyceride intake. A very low-fat diet is recommended, often supplemented with medium-chain triglycerides (MCTs) that do not require LPL for metabolism. In some cases, medications such as fibrates or omega-3 fatty acids may be used to help manage triglyceride levels.

Prognosis

With appropriate dietary management, individuals with familial lipoprotein lipase deficiency can lead relatively normal lives. However, they remain at risk for complications such as pancreatitis, which can be life-threatening if not managed properly.

Research

Ongoing research is focused on gene therapy and other novel treatments to address the underlying genetic cause of the disorder. Clinical trials are exploring the efficacy of these approaches in reducing triglyceride levels and preventing complications.

See Also

• Hyperlipidemia
• Genetic disorders
• Metabolic diseases

External Links

• Genetic Home Reference: Familial Lipoprotein Lipase Deficiency
• NIH Rare Diseases: Familial Lipoprotein Lipase Deficiency

NIH genetic and rare disease info

• NIH info on Lipoprotein lipase deficiency, familial

Lipoprotein lipase deficiency, familial is a rare disease.