Thursday, December 6, 2018

ET? Tell your kids and siblings


Image result for genetic chart
Inherting a predisposition to ET doesn't
work in a predictable way, like
the yellow/gray genes in cats. At this time
there is no way to predict whether close
relatives have inherited a predisposition
to ET. And inheriting the predisposition
does not mean someone will develop
ET.
  
Rare Disease Report covered a study in August of this year that showed immediate relatives of ET patients have a 7 percent higher chance of getting an MPN than the general population. Those with a parent who was diagnosed with an MPN at a young age might be at a higher risk.

I wrote about the "diet coke and mentos" theory of ET genetics a couple of years ago, so the study shows more statistical evidence for that theory.

If you spend much time in MPN support groups, you will learn that many patients report they had a grandparent, parent, or sibling with an MPN.  Not all family members had the same MPN; remember that the mutations that cause ET can also cause myelofibrosis or polycythemia vera.

A family predisposition does NOT mean that you are passing a gene for ET to your children in the same way that someone passes on genes for brown or blue eyes. It simply means that your children (or brothers and sisters) might be more likely to develop the mutation that causes ET under circumstances researchers still don't really understand.

As many readers know, my dad was diagnosed with ET later in life. He had probably had it for some years, since his platelets were close to a million when he went to the doctor to have a blood clot in his leg treated. None of his five half-siblings had an MPN. Neither does my brother.

What seems prudent for ET patients to do at this point is to tell their children and siblings to let their doctors know that they may have an elevated risk for developing an MPN. This may mean that their doctors would do annual blood counts just to keep an eye on platelet and other blood levels. Catching the disease early means that patients have a better chance of avoiding clots and other complications.

Be well!

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ET is a serious disease that requires specialist care. Discuss anything you read here with your doctor. No comments promoting "alternative" or "natural" cures (yes, this includes Rick Simpson's Oil) will be published.