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Related Conditions

Familial Chylomicronaemia Syndrome

Advances in the understanding of our genetic make-up have led to the identification of a number of genes which can cause the lack of ability to digest fat (and it is anticipated that more will be found in the future).

Grouped together these different genetic routes to the same clinical symptoms are known as Familial Chylomicronaemia Syndrome reflecting the metabolic process whereby the triglycerides clump together to form chylomicrons which then stay in the blood stream of the affected individual.

Some of the genes that are known to cause Famial Chylomicronaemia Syndrome include those for familial lipoprotein lipase (LPL) deficiency, apolipoprotein C-II (APO C-II) deficiency or mutations that affect APOA5, GP1HBP1 and LMF1 genes.(1)(2)

The lipoprotein lipase gene is the most prevalent, present in around 80% of people with FCS.