Rare Genetic Disorder Caused Three Siblings’ Blood to Turn ‘Milky’ White


  • Three siblings were found to have been afflicted with a rare, serious condition that causes their blood to turn ‘milky white’ in color.
  • The genetic condition known as familial chylomicronemia syndrome” (FCS) occurs in people with defective lipoprotein lipase genes.
  • This defect causes people with FCS experience very high triglyceride levels, leading to complications in the liver and pancreas.

The will to live and the powers of medical science are continuing to help three siblings battle a rare genetic disorder that turns the red color of their blood into the color of milk.

Called “familial chylomicronemia syndrome” ( FCS ), also known as “lipoprotein lipase deficiency, this deadly condition is estimated to occur in one in every one million persons, meaning less than 400 persons in the U.S. are afflicted with this disorder. Passed down from parent, the trio was found to have the condition, two of whom are fraternal twins.

Lipoprotein lipase is a digestive enzyme that breaks down chylomicrons, which transport triglycerides, a type of fat, to regions in the body that need energy. A person with familial chylomicronemia syndrome (FCS) has a defective gene for lipoprotein lipase. This defect leads to a buildup of chylomicrons which causes triglycerides levels to increase.

People with FCS with extremely high triglyceride count experience stomach pain with fat deposits stored under the skin. This can lead to pancreas and liver problems resulting to diabetes. Such conditions are exactly what the three siblings, who are now in their 50s, are suffering from.

Normal triglyceride levels typically fall below 150 mg/dL. But for people with FCS, triglyceride levels can be more than 1,000 mg/dL. According to the National Institutes of Health (NIH), a 500 mg/dL blood level of the fat in a healthy person is regarded as ‘very high’.

But for the siblings’ case, the male twin’s triglyceride levels reached as high as 5,000 mg/dL while the other brother’s levels reached 6,000 mg/dL. But it was the female twin’s levels that reached the highest, peaking at a maximum of 7,200 mg/dL.

Furthermore, due to the high blood levels of fat among people with FCS, the normally red color of blood appear milky.

As the siblings fought to keep their triglyceride counts under control, they also suffered frequent bouts of pancreatitis, or the inflammation of the pancreas which causes abdominal pain, fever and vomiting.

To save their lives, doctors strictly reduced the levels of fat in their diet, a move that successfully managed their triglyceride levels and mitigated their recurrent pancreatitis. Doctors also discovered that they can manually replace the fat-filled blood of the trio with healthy blood from donors. However with the siblings, their condition was controlled with diet alone.


Source: Medical Daily

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