Lipoprotein Lipase Deficiency (LPLD)

What is lipoprotein lipase deficiency (LPLD)?

Lipoprotein lipase deficiency is a rare disorder characterized by a deficiency of the enzyme lipoprotein lipase, which prevents affected individuals from properly digesting certain fats. This generally results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and an increase of the plasma concentration of fatty substances called triglycerides.

What are the symptoms of LPLD?

Generally, the severity of LPLD varies depending on the severity of the chylomicronemia, which fluctuates depending on the amount fat in an individual’s diet. The main symptoms are:

Abdominal pain (may appear as colic in infancy)
Pancreatitis
Xanthomas
Hepatosplenomegaly
Loss of appetite
Nausea
Pain in the muscles and bones (musculoskeletal pain)
Vomiting

What causes LPLD?

LPLD is caused by mutation of the LPL gene, inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.

How is LPLD diagnosed?

LPLD is often diagnosed after clinical evaluation, detailed patient history, and identification of characteristic symptoms. A diagnosis may be confirmed through:

Blood test
Imaging test
Molecular genetic testing

What treatments are available for LPLD?

A very low-fat diet is the most common way to control the symptoms and blood triglyceride levels of LPLD. In 2012, the European Commission approved the marketing authorization of alipogene tiparvovec gene therapy (Glybera®) to become the first approved gene therapy treatment for individuals with LPLD. Gene therapy involves replacing mutated genes with healthy copies or inactivating the mutated genes. Glybera therapy involves inserting healthy copies of the LPL gene into affected individuals.