Tuesday, November 19, 2019

Mutation causing Milky White Blood

Three siblings were discovered to have milky white blood due to a genetic disorder. The blood was full of fat that caused the coloration. The siblings, two of which were a set of twins, were born to a first cousin couple that are part of a Pennsylvania Dutch family. As teens the siblings experienced abdominal pain and when they sought medical help they were diagnosed with hypertriglyceridemia. This disorder causes an increase of triglycerides in the blood. However, further testing recently done in their fifties showed that they actually have an ultra rare condition known as familial chylomicronemia syndrome causing very high levels of triglycerides causing the color of the blood to turn milky white. 
Figure above shows the molecular form of a triglyceride
The siblings have long attempted to control their triglyceride levels to alleviate the symptoms of abdominal pain, fever and vomiting.  There was only one gene found to cause the condition when normally there are multiple. The gene usually breaks down triglycerides in the blood. Each sibling was found to have two copies of the mutated gene which must have been passed down from each parent. The Particular gene mutation found in the children has never been seen before. Their condition can be helped by a low fat diet.
I was intrigued by the title of this article “A Rare Genetic Disorder Turned These Siblings' Blood 'Milky' White” because I had no idea that this could occur. I found it interesting that these patients blood had so much fat in it that it became a white color. I was surprised that this condition could be alleviated by a controlled diet.

1 comment:

  1. I would like to know what this "milky white" blood actually looks like, it would be interesting to scrape your knee as a child. Also, it's pretty crazy that all three children happened to receive both mutated/ recessive alleles from their parents.