Three siblings of a first-cousin couple have two copies of a mutated gene, which causes their blood to run white with fat. These mutated genes result in an ultimately rare genetic disorder called familial chylomicronemia syndrome (FCS) also known as “lipoprotein lipase deficiency”. This syndrome affects about 1 out of 1 million people. This genetic disorder causes a person to have a defective gene that codes for lipoprotein lipase (LPL) which is known to break down fats in the blood. With the mutated gene that codes for the protein, there were not enough LPL in the siblings’ blood and their blood plasma ran white with excess triglycerides. This leads to a high level of triglycerides, a type of fat, in human blood. Calories that are not used right away are converted into triglycerides. These triglycerides are then stored in fat cells. These triglycerides are later released for energy by hormones. The normal amount of triglycerides in the blood is below 150 mg/dL. People with FCS may see levels of triglycerides above 1000 mg/dL. In this case, the three siblings had triglyceride levels as high as 7,200 mg/dL.
I found this article to be very interesting because the idea of having milky white blood is wild to me. I find it surprising that all three of these siblings have the mutations and 2 of which are twins when this is considered a very rare genetic disorder that affects 1 in 1 million people! It is wild how they are children of first-cousins too, meaning that both of the parents passed down the mutated genes to the three siblings. It also surprises me how these three siblings have lived so long despite having a disorder like this. The advancement of medical practices and technology never ceases to amaze me.