Monday, September 17, 2012

The Strange Tale of Pheo and Poly

I was in the middle of a reading lesson with Daniel when Christopher, who had been going through medical testing for nine months, called my cell phone.

"Hey, they figured out what I've got," Christopher said. "Bet you've never heard of this one."

I set down Daniel's reader and motioned him to take a break. "Doubtful."

"Polycythemia vera."

"Whoa, that's awesome, especially since I write vampire stories. I not only know what it is, I know how they treat it."

Christopher was only mildly surprised. "How?"

"Good old-fashioned remedy straight out of the Middle Ages. They bleed you."

Since 2010, my oldest son has required biweekly to monthly (more in hot weather) phlebotomies to remove several pints of blood to keep his red blood cell count under control. If he goes too long between treatments, his veins literally become as engorged as Count Dracula himself after a fun night out on the town.

These treatments will probably be lifelong, and he's only thirty. At the time of diagnosis, Christopher's hematologist told him he'd already experienced several minor heart attacks.

And here we thought inactivity caused his adolescent hypertension!

I had previously studied polycythemia vera years ago years ago while researching possible cause of my chronic hives. These had come at the same time I had the pheochromocytoma (a rare, benign, often fatal tumor of usually--but not always--the adrenal gland), although I'll save the story of how I found the tumor (Yes, me) for another post.

After I had the pheochromocytoma and had developed the thyroid nodule, I then began researching family medical history (Three of my grandparents had died relatively young of vague, abdominal tumors) and the multiple endocrine neoplasias. I have six children, so the genetic component, for their sakes, fascinated me.

It now looks like I may have found a connection. This is so cool! In 2009, seven years after my tumor, research showed that an is association between with paraganglioma (pheochromocytoma outside the adrenal gland) and polycythemia due to a inherited mutation in the gene PHD2.

Now for the really fun part. Two patients with both conditions that did not seem to have the mutations have something really interesting going on. Check this out:


http://drpheo.blogspot.com/2012/09/the-story-of-para-and-poly-are-they.html
 

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