familial chylomicronemia syndrome

A rare autosomal recessive disorder, Familial chylomicronemia syndrome (FCS), affects 1 in 1 to 2 million people that prevents the body from breaking down fats. Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder characterized by extremely high levels of triglycerides in the blood due to the impaired breakdown of chylomicrons, a type of lipoprotein. It is primarily caused by mutations in genes involved in lipid metabolism, most commonly the LPL gene, which encodes lipoprotein lipase—an enzyme critical for breaking down triglycerides in chylomicrons.

The rarity of the disorder makes it challenging to manage, diagnose, and understand the disease clinically. The Familial chylomicronemia syndrome market lacks any approved therapy, and at present, the dietary restriction is the mainstay of the treatment.

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