Weird Medicine

‘Milky’ White Blood Spotted In Three Siblings With Rare Condition

Doctors continue to save the lives of three siblings born with an ultrarare genetic medical disorder that swamps blood with more than enough fatty lipids to kill a person, and turns the color of blood into the color of milk.

The disorder has afflicted the lives of these three siblings who are now in their 50s. The trio has been able to fend off death because their deadly condition is a tribute to their will to live and the almost miraculous powers of medical science.

This incredibly rare disorder called "familial chylomicronemia syndrome" ( FCS ), which is also called "lipoprotein lipase deficiency," affects one in every one million persons. This means there are likely fewer than 400 persons with this disorder in the United States. And three of them are found in this one family. Two of the three are fraternal twins.

This genetic disorder means a person has a defective gene for lipoprotein lipase. This defect leads to very high triglycerides, which are a type of fat — or lipid — found in human blood. When a person eats, his body converts calories it doesn't need to use right away into triglycerides. These triglycerides are stored in fat cells. Hormones later release triglycerides for energy.

The very high triglyceride count in persons with FCS causes stomach pain and deposits of fat under the skin. It can lead to problems with the pancreas and liver, which in turn can lead to diabetes. These are exactly the problems that plagued these three siblings.

FCS causes the accumulation of more than 1,000 milligrams of triglycerides per deciliter (mg/dL) of blood. For comparison, normal blood levels of the fat should fall below 150 mg/dL. A level of 500 mg/dL will be considered "very high" in a healthy person, according to the National Institutes of Health (NIH).

Doctors said people with FCS have blood fat levels so high, the normally crimson fluid turns to the color of milk.

The three siblings struggled for decades to keep their triglyceride levels under control. In the process, they suffered frequent inflammation of the pancreas (a condition known as pancreatitis). Pancreatitis is a serious condition that can cause abdominal pain, fever and vomiting.

blood This genetic mutation causes symptoms that could have been mistaken for vampire behavior. Photo Courtesy of Pixabay

The male twin's triglyceride levels sometimes reached as high as 5,000 mg/dL; the other brother's levels peaked at around 6,000 mg/dL. The female twin's triglyceride levels was the highest of all, reaching 7,200 mg/dL at maximum.

To save the lives of the three siblings, doctors placed them on a fat-restricted diet. This move successfully stabilized their triglyceride levels and quelled their bouts of pancreatitis.

Sometimes, when triglyceride levels spiked, doctors manually replaced the fat-filled blood of their patients with healthy blood from donors. Thankfully, the siblings' condition was contained with diet alone.

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