Is it possible I have VHL?

Hi I am a 20 year old male and I was just recently diagnosed as having the VHL gene through genetic testing. Many of my family members on my mothers side have the disease and have had symptoms, including a sister and two cousins around my age. For the past few years I have had many health problems the worst being a debilitating fatigue that never passes. I have constant low blood pressure and get very dizzy upon standing. Every morning I wake up feeling like I have an awful hangover......headache etc, which does get somewhat better but I still have awful brain fog through out the entire day. I have also had a very weak immune system for as long as i can remember and was constantly getting sick often, and also have had the worst case of mono I have ever heard of. Also since puberty I have had cysts all over my testicles a couple have gotten pretty large at this point(doctor said this is normal and has nothing to do with VHL). I read on the website that it is common for males to get these with VHL but my doctor knows nothing about it.

I recently just got back from mayo and they have done a lot of testing that could rule out VHL but I'm not sure if it was adequate. I had an MRI of my entire spine and brain as well as a CT of my liver and other organs. Both of which were done with and without fluid I believe. They also gave me some sort of urine test to check on some levels..... I believe I read on vhl.org that it was supposed to be a 24 hour urine test. I also had my eyes looked at to rule out that. All of these tests came back normal. The only thing they found on these tests through the MRI was a bad case of chronic sinusitis. Would it be possible that all my symptoms are from this(I do have many of the symptoms...sensitive teeth,ear pain)?
Is it necessary for me to receive further testing for VHL if so what should I do?
And also should I be concerned with the cysts being somehow VHL related (they are only on the outside)?

By Kristel
Posted October 10, 2008 at 7:09 am
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Sounds like you have been lucky as far as VHL tumors go. The thing about VHL is that you can have a scan one year and it shows nothing but a year later there can be something there. You will need to continue screening for your whole life.

If I were you I would definatly have the 24 hour urine test to check for Pheo's. These show up on your adrenal glands but can show up other places as well. That is the only thing off the top of my head that sounds like it could be related to your blood pressure problems.

If you know you have the gene you have to get screening. Pay special attention to your kidneys. My mom let hers go and she is looking at losing the one remaining kidney she has in two years.

I was young like you when I was diagnosed. Just make sure to stay up on all the tests and you will be fine.

good Luck

Kristel

By donnab
Posted October 10, 2008 at 8:59 pm
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I am so sorry to hear what you've been going through and dealing with all this time. Sounds like you had full screening for VHL manifestations with the exception of ELST.

It seems to me we may have had someone else on here at one time that was initially diagnosed with sinitus and it ended up being an ELST. I don't know that any of your symptoms could be attributed to an ELST, but with ear pain it might not hurt just to rule that out.

Have the doctors tried to figure out what is causing your low BP? I wonder if the headaches and fuzzy feeling in your head could be related to that?

When I was really sick with my first pheo I suffered from terrible fatigue, horrible headaches and brain fog, but a pheo usually presents with high BP, not low BP.

By sunda1
Posted October 11, 2008 at 3:45 pm
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Hi there footballer

Some advise from a Kerry man and loyal GAA fan not sure how you will take it! I have posted a few responses recently about testing and my own diagnosis. All I can say is based on what I have read and been told; if you have the gene the chances are you will develop some VHL related problem sooner or later, hopefully a lot later. Having said that I met a woman just a few weeks ago whose father passed on the gene to her yet he lived to his seventies, drank and smoked with no symptoms, or at least none that bothered him enough to warrant a trip to the hospital, it is a strange disease.

I myself was diagnosed a spontaneous case (not passed on from parents very rare) at forty as a result of my ever worsening migraines. My wife, a nurse couldn’t take the hypochondria anymore and arranged for an MRI which showed two ping pong sized tumours in the back of my head. Six months later with genetic confirmation of VHL I had to have both of my kidneys removed in Beaumont. I got two opinions before taking this step and both surgeons agreed that there was no way of shelling or treating the kidneys just get a line put in and prepare for dialysis.

I would suggest that you find an urologist and that knows about VHL and keep doing the tests at least every 12 months. The last thing you need is to let the tumours associated with VHL cause you to loose any part of you that can be potentially saved with frequent monitoring. There is a doctor in Cork CUH who deals with several family’s in the Munster area I will try to get her name for you, maybe she can recommend a doctor closer to you.

All the best

By footballer
Posted October 11, 2008 at 6:26 pm
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no the doctors have not really done much to find the cause of the low blood pressure nor has anyone really taken any interest in my case....i have seen probably ten or so doctors at this point.

By footballer
Posted October 11, 2008 at 6:29 pm
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sunda1 it would be awesome if I could get that name so I could find someone in the US preferably my area that I could see someone

By sunda1
Posted October 12, 2008 at 6:44 am
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Dr. Tuthel is her name she is out on maternity leave for a few more weeks her secratary is Ann The telephone number from the US is 011 353 21 4922333. The testical cysts are they on the testical or are they higher. either way they are not a major problem but can bring on (epididimus) scrotal support is a must if you start to get aching pain.

All the best

By joyceg98
Posted October 13, 2008 at 11:41 am
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Mayo clinic is a great place to go for VHL. Be sure to contact the VHL Clinical Care Center there, as they will be sure to put you in touch with the doctors who are most familiar with VHL. Yes, even at the Mayo clinic not all the doctors know much about VHL.

Epididymal cystadenomas are definitely part of the VHL package. In fact having them on both sides is considered enough by itself to diagnose VHL. As you say, they are annoying but usually not really a problem. Read the section in the Handbook.

You can download the Handbook, or we are happy to send you one for yourself and another for your doctor who told you that they are not associated with VHL. That's what it's for -- to help you and your local doctor do this right on the first try.

As for the symptoms you are describing, I would suggest that you pursue two possibilities, and do so soon.

1. Pheo - you need a test called "plasma free metanephrines" which is done at Mayo. Other places will draw bloods and send it usually to Mayo for analysis. This test is more "specific" for pheo and more accurate than the 24-hour urine, though both are used and can be important in seeing the whole picture of your blood chemistry.

2. ELST - what you describe might also be due to an endolymphatic sac tumor. Read the Handbook, and search on our website for "Lonser and ELST" for the latest article for your doctor as well. The best test is an MRI of the Internal Auditory Canal (IAC). A regular MRI of the head will not show it, as they need to focus on this very small structure and use a very small "slice depth" in order to see it.

All best wishes,
Joyce

By ireland22
Posted March 10, 2009 at 2:14 pm
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hi my name is lisa i have vhl , just wondering did you get in contact with doc tuthel in cork as she is my doctor . as i go in every year for 3 days for all my test's for 24 hour urine test ,blood test mri, and few more.

By cmdoyle
Posted March 11, 2009 at 1:00 pm
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Footballer,

The others are right. It's crucial for a VHL patient to continue being scanned, even when they're not presenting symptoms. For a VHL patient, early detection is the key - find the problems when they are small and just beginning. They are almost always easier to treat that way!

About your low blood pressure, I can definitely relate. I have very low blood pressure too. Have you always had low blood pressure, or did the problem start at some point? Do you notice it being lower on certain days rather than others? Are there any medications you take for it?

My blood pressure is always low, but sometimes it gets especially low. When that happens, I will often get a headache as well and I have trouble concentrating, as if my mind is in a fog. Is that the feeling that you described? I'm wondering if that feeling, like mine, happens because of the low blood pressure, rather than in addition to it.

I notice that there are things that help or worsen my low blood pressure:

1. A hot, humid day is absolute murder! A cool, dry day is when I feel the best. For this reason, I know that I could never live on the East Coast. Right now I live in San Diego, and I'm contemplating moving up to Oregon/Washington area after grad school because it's so much cooler.

2. Caffeine to raise it when it's low. If I have an afternoon of low blood pressure, I'll drink a coffee to get it up. Also, I drink coffee every morning to give myself and initial boost, and I find that this makes a phenomenal difference in how the rest of the day goes.

3. I don't take hot hot showers anymore. Heat tends to lower the blood pressure, so I avoid putting myself in a hot environment. That means when I go in the Jacuzzi, I stay up on the top step or so and don't submerge myself. Little things like that make a big difference. I do find that, for the shower, a shower in the morning makes a HUGE difference in how my day goes. I think the act of getting my scalp wet and letting it cool down as my hair is drying makes the difference.

4. Believe it or not, certain foods can raise or lower blood pressure too. Salt will raise blood pressure, so I try to increase my salt intake on days when it's really low. The most important thing I find is to stay away from foods that lower blood pressure: orange juice, dark chocolate, and pomegranates. There may be others that lower it as well, but those are the three that I know. I avoid eating those and that makes a difference.

5. Right after you eat, you body devotes most of it's energy to processing the food and there's little energy left to maintain your nervous system. What this means, is that when you've got a lot of food to digest, your body isn't able to regulate your blood pressure that way it would if you had less food in your stomach. For this reason, i avoid putting my body in the position when I have a ton of food in my stomach. You know the feeling after a big meal when you are kinda sleepy and sedated? That's your body refocusing it's energy to digest food. That's the situation I avoid, because it's those times when my blood pressure plummets.

I hope all this information helped! I learned most of these things from a blood pressure specialist I saw in San Diego, CA. His name is Michael Ziegler and he's with UCSD Medical Center. I know he's not near you, but if you're interested in seeing him, let me know and I'd be happy to send you his information.

Christina

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