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Pheos

Editor's note: This story was originally published in the My Blood Pressure Newsletter. If you are interested in having your blood pressure story told, please email Kellie or Steve at support@my-blood-pressure.com.

My Story - Alison E

Kellie's note: Alison's husband and two children have all battled a rare tumor called Pheochromocytoma (Pheos) which can elevate blood pressure levels and heart rate.

According to www.endocrineweb.com website, Pheochromocytomas are tumours of the adrenal gland which produce excess adrenaline. Adrenal glands produce adrenaline which helps to maintain blood pressure and to cope with stress. Pheos cause an overproduction of adrenaline which can severely elevate blood pressure.

She has shared her story and knowledge with us in an interview in the hope that it may help to increase awareness of pheos and maybe save a life.

Thank you to Alison for your time in sharing your family's story.

Kellie: Hi Alison, can you give me a quick rundown of what pheochromocytomas is?

Alison: "Pheo" is a rare endocrine tumor which produces excessive stress hormones. Because of excessive adrenaline, pheos may precipitate life-theatening hypertension, cardiac complications or a stroke. These tumors are usually located within the adrenal glands which sit on top of the kidneys. In the past it has often been called the "10% tumor" because:

• 10% are malignant (90% are benign)
• 10% are bilateral (found in both adrenal glands: 90% arise in just one of the adrenal glands)
• 10% are extra-adrenal (found within nervous tissue outside of the adrenal glands)
• 10% are in children (90% are in adults; commonly 40-60 years old)
• 10% are familial (10% will have a family member with the same type of tumor)
• 10% recur (10% or slightly less, will come back 5 to 10 years later)

An article in the New England Journal of Medicine by Dr. Hartmut Neumann and colleagues has dashed the rule of 10. In his study of a large group of patients with sporadic pheochromocytoma and no family history of pheos, approximately 25 percent had germline mutations of one of the four susceptibility genes for pheo. Now that we have tools to examine the gene itself, we get a very different picture than we had from clinical diagnosis alone.

Kellie: How did you discover that your daughter, Chloe had pediatric pheochromocytomas?

Alison: My husband has a rare genetic disease called von Hippel Lindau and he had two pheos when he was a teenager. This gene was passed on to both of our children. Luckily, we chose to have DNA testing on our kids when they were very young, so we knew to be on the lookout for these tumors as well as other types of tumors associated with this syndrome.

Chloe was six when her adrenaline levels started rising. Her primary symptom was sweating, especially when she was sleeping. She also looked very tired most of the time. She has headaches as well, but didn't complain about them too much.

I remember visiting her second grade class and thinking that she just looked so tired and pale compared to all the other kids. That was kind of an eye-opening experience because I had gotten so used to seeing her look that way. During this time period, there was a new blood test that was developed by Dr. Graeme Eisenhofer at the NIH called the "Plasma Free Metanephrine Test" - this simple blood test is 97% accurate in detecting a pheo.

Kellie: What was the impact on her?

Alison: Prior to taking the "Plasma Free Metanephrine Test", we were told by the chief of pediatric endocrinology at a major hospital that there was "no way" that she had a pheo despite urine test results, because she did not have sustained hypertension. He said that children with pheos always have sustained hypertension. While it is true some kids will have sustained high blood pressure, there are still children that will not.

Once diagnosed, Chloe's surgeon was able to remove her three centimeter pheo laproscopically, and she recovered fully. Our excellent anesthesiologist, Dr. Nancy Glass, had to give her a generous amount of anesthesia because of the excessive adrenaline circulating in her system. The doctors could not believe that she was still wide awake and alert after all of the drugs they administered. They all clamored around her not believing what they were seeing. Chloe finally went to sleep, but only after a lot of anesthesia.

Thankfully she came through very well. She is thirteen now and very active in competitive cheerleading and theater. Currently, she has three eye tumors that are being watched closely.

Kellie: - Your son Caleb was also diagnosed with the tumors, what affect did it have on him?

Alison: - Caleb was only 4 when his biochemical testing came back elevated, 2 years after Chleo's surgery. Instead of the usual adrenal location, he had three of them located on his aorta. He is one of the youngest known cases world-wide. His blood pressure was high normal at that time. Since he was so young, we didn't notice a lot of symptoms. When he was only two, he complained of headaches. Caleb also had some night sweats, but that was pretty much it.

An MRI revealed two pheos and surgery was scheduled. An "open" surgery was deemed best because of the location of his pheos. While they were in surgery, our surgeon found another pheo close to the other two that did not show up on any of the previous imaging. Needless to say, his surgery was a delicate one, and ended up taking eight hours.

All was well until the day after surgery; he had a code-blue because of a problem with his epidural line. The epidural was threaded high up to ease the pain of his rather large abdominal incision and there was some excess epidural anesthesia in the line that affected his respiratory rate. Caleb turned completely blue as his oxygen saturation dropped to 9% (normal being 95 to 100%.) So far I had handled everything else fine until this happened. I still have nightmares about it. It's something I don't think I will ever get over.

Kellie: - How does pheos affect blood pressure?

Alison: - Pheos symptons are as a result of excess adrenaline production and include; headaches, sweating, racing heart (tachycardia and palpitations) and elevated blood pressure. I want to remind everyone that pheochromocytomas are very rare, reportedly occurring in 0.05-0.2% of hypertensive patients.

Kellie: - You said monitoring your children's blood pressure helps you to monitor the tumors activity, in what way?

Alison: - It's always good to have a baseline, so that you know if you start seeing variations, an increase or decrease in BP, as well as nocturnal hypertension, that something might be going on. Currently, Caleb's BP increases at night - which usually BP decreases when you sleep by 10-15 points. It only happens in about 15% of the population, which doesn't necessarily point to a pheo, but could be another piece of the puzzle. He has another very small pheo on his aorta right now that is being watched. By monitoring his blood pressure, this is one way we know if the tumor might be acting up.

Kellie: - If there is anything else you would like to share?

Alison: - Missing this diagnosis could have catastrophic consequences. If you are having severe headaches, excessive sweating or intense anxiety or you are having a very difficult time controlling hypertension, you may be at risk for this tumor. Both an experienced anesthesiologist and an experienced surgeon are crucial to the success of the surgery. I have two beautiful children that lead perfectly normal lives because of a timely diagnosis.

Kellie: - Thank you for sharing your time and knowledge.

Kellie's note: For further information on pheos visit: http://www.mayoclinic.com/health/pheochromocytoma/DS00569/ or www.phechromocytoma.org. To read Alison's full story on how Pheos has impacted her family visit http://vhl.org/newsletter/vhl2005/05dbpheo.htm