VHL Tests

• By DebWestbrook
• Posted January 15, 2008 at 9:00 am

In 1982 my father went to the hospital and was diagnosed with kidney stones. He later passed away from kidney cancer at the age of 40. This year I had a problem with my eye and the doctor suggested that I get tested for VHL, I am 33 years old. I never heard of this before so I went thinking it would come back negative. I tested postive for VHL, the first in my family. This was very scary for me at first, but now knowing that I am taking charge of my own health, and that with early detection and regular screening my outlook for the future can be much brighter than my fathers.

Good Luck!!

Deb

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• By joyceg98
• Posted January 15, 2008 at 11:11 am

Yes, this could certainly be VHL, especially since the pathologist suggested checking for VHL. That is not a common referral, and I'm sure is based on a careful look at the facts in her case.

She may be seeing such a diagnosis as a kind of "sentence." Or simply more than she can deal with right now.

Perhaps you can help her to look at it as an "early warning system."

She had the good fortune to catch this 10 cm tumor while it was still contained within the kidney. Most people who find a kidney cancer tumor that large are already facing metastatic disease. Somebody up there is looking out for her. She can either take that as good news, get the diagnosis of VHL confirmed (or not), and use this information to help her manage her health.

Or she can ignore this bit of luck, continue through life with her blinders on, and possibly get blind-sided with another nasty surprise in future. If indeed she has VHL, there are strategies for managing the condition, but they depend on your being proactive and staying on top of things.

At the minimum, she needs to be very watchful for the next five years, as there is still a possibility that a kidney cancer tumor of that size might already have sent seedlings out into her body. There are drugs that can help to stop metastatic kidney cancer, but the earlier they are applied, the better. If she does have a diagnosis of VHL, it might be wise for her to enroll in the Sutent trial at M.D.Anderson, to kill off any seedlings that might have already escaped.

And whatever she decides, remember that she's a grown-up and she is going to make her own decision. She is in the early stages of a grieving process right now. (Grieving her vision of herself as healthy and invulnerable). Hopefully she will come to accept that she has a condition that should not be ignored, but she might not, or at least she might need some time to absorb it all. You can help provide information, but don't get too bummed out if she ignores your good advice. If she rejects it, step back and wait awhile, then perhaps try again.

Best wishes,
Joyce

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• By elainef66
• Posted January 15, 2008 at 12:14 pm

On the facts you presented here. I'd consider it a very high priority to test for VHL (or rule it out, since she's quite sure that's not it) . That's one suspicious set of coincidences.
I am heartened to see that the lab was informed and proactive enough to forward the information to her doctor, and her doctor to her; too many times the chain of information looses a link - this could have been be her lucky day, although I don't doubt it feels far from lucky from her perspective.
It is no fun dealing with screenings, and the looming "what if"s of VHL, but it sure beats being blind-sided with emergency surgeries and severe complications that can arise from stuffing one's head in the sand.... Forwarned is forarmed. Among other things, if it is VHL, her remaining kidney could develop tumors as well, and they'll need to be treated early to ensure she can keep the remaing kidney healthy.
I'd try to get her to do the testing, even if she just does it to prove you wrong, or put your mind at ease.
You may have more luck just gently bring up the idea every so often, planting the seed and letting it grow, rather than a head on approach - it sounds like she has a lot on her plate to cope with. Use your intuition, and be ready to seize any opportunity.

Best of luck!

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• By Bandit00
• Posted January 15, 2008 at 9:48 pm

Actually I think it was the lab that informed her and not the doctor. As far as I know she has not heard from her doctor which is concerning to me.

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• By elainef66
• Posted January 16, 2008 at 9:05 am

Then kudos to the lab for being unusually proactive. In my experience it is not unusual for the doctor's offices to be very slow to follow up - or expect the patient to persist and persue... Which makes it much too easy for reluctant patients to slip through the cracks. Also, specialists tend to not want to step outside their niche - this is where an involved GP is so helpful (but unfortunately rare).
Stay on your friends case to follow up on this heads-up from the lab.

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• By Bandit00
• Posted January 16, 2008 at 9:24 am

She said she would mention it to her doctor on her next appointment (if she thinks of it but otherwise she is not worried about it) so I guess I better leave it alone for a little while don't you think?

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• By elainef66
• Posted January 17, 2008 at 1:09 pm

Let it go until just before the appointment - whenever tht is, and try to "remind" her just before. HOPEFULLY, if the lab bothered to contact her, they contacted the doctor too, and the doctor will remember...

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• By Bandit00
• Posted January 17, 2008 at 7:58 pm

I will. How likely is it that someone with these circumstances has VHL? Or is that even a fair question? Thanks for all the help.

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• By eramsteven
• Posted January 19, 2008 at 9:24 am

VHL is rare (about 1 in 35,000, give or take). But exhibiting 3 of the common symptoms of the disease-kidney cancer, pancreatic cysts & spinal lesions at the same time is pointing to a diagnosis of VHL.

Before genetic testing for VHL, (correct me if I'm wrong) the diagnosis would be based on these symptoms alone.

Having VHL is not a death sentence. There are many of us that lead normal lives until we need surgery, etc.

Good Luck.
Emily Stevens

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• By joyceg98
• Posted January 19, 2008 at 10:26 am

Emily is right. That's true. The clinical diagnostic criteria are that someone have tumors in two or more of the organ systems usually affected by VHL, or tumors in one organ plus a first-degree relative with VHL.

Now that DNA testing is available, it is usually considered the final arbiter of this question. However even DNA testing is not infallible, The clinical diagnostic criteria are still important. She is lucky that the pathologist recognized the signs. Now she needs to follow up.

Some people -- including doctors -- think that "rare" means they will never see it. But the probability of "rare" is still greater than zero. Winning the lottery is "rare" but it does happen, and having VHL is much more common than winning the lottery.

For someone in the general population to be the first in their family ever to have VHL is pretty close to the odds of having triplets the old-fashioned way. It is even more common for someone to be the first person diagnosed in their family, but there has in fact been undiagnosed VHL for generations before that. The folks in this list can tell you stories . . .

Best wishes,
Joyce

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• By Bandit00
• Posted January 19, 2008 at 2:39 pm

I may just be looking for things but she seems to be more easily angered and her mood swings are much greater than they used to be. She attribues it to menapause. Does this go with the territory or am I just being paranoid???

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• By Bandit00
• Posted January 19, 2008 at 3:04 pm

She has also been diagnosed with Diverticulitis which I attributed to the stress she has endured from all the stress of dealing with cancer.

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• By Bandit00
• Posted January 27, 2008 at 7:00 pm

Could someone please tell me if Diverticulitis is a common sympton with VHL or is it likely just a coincidence? I think I have my friend agreeable to have a test for VHL when she goes back to the doctor in April but she is 100% convinced it is a waste of time. I guess that is ok until she gets an answer one way or the other. Sounds to me like it is impossible to look at her symptons and get a good idea of whether she does or does not have it. ???????

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• By elainef66
• Posted January 29, 2008 at 9:01 am

Don't know about diverticulitis, but having VHL certainly doesn't exempt a person from having any/many other more or less common health "issues" - especially stress related ones... This may soud weird, but in my mind the fact that her kidney tumor was so big, but apparently had't spread is kind of typical of VHL in that in VHL the kidney cancer is generally slow developing and slow to spread (relatively).
As far as the spots on the spine and cyst on the pancreas: if you picked "healthy" folks off the street and scanned tham you'd find all sots of spots and cysts and things - usually never found until they're looking at something else, or a problem arises (my uncle has a grapefruit-sized kidney cyst: nothing to do with anything, apparently - it's just "there"). If doctors surgically removed one of the spine "spots" they could determine the structure and confirm, or disprove VHL, or a spine spot developped a cyst, or if an ophtamologist found an eye tumor, combined with the kindey tumor, that would be pretty definitive. This is where the genetic test can be so useful. A negative might still leave a shadow of a doubt since some mutations can be very hard to locate. A positive though, at this point, is pretty much a sure thing. This is the best way to rule out VHL for her.
I'd blame the grumpy/ moodiness on menopause and/or anxiety and stress, myself. Even if she's denying the likelihood of VHL to you, I'd not be surprised if it is lurking, repressed, in a dark corner of her mind.
She is lucky to have a steadfast friend llike you to support and look out for her.

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• By Debby3
• Posted January 29, 2008 at 10:21 am

I am so sorry to hear about your friend. It is true that dealing with VHL is very stressful. My husband went into the emergency room back in 1987 for dizziness and vertigo. Needless to say 3 hours later he had a tumor removed from his brain. A few days later they said that there was a slight chance that it could be VHL. Six weeks later he had a kidney and a half removed due to cancer in his kidneys. They told us at that time that he had VHL. We searched and could not find anyone with a similar path in his family. We were in denial until at age of 13 my daughter showed symptons of a brain tumor whicht was also removed and found to be VHL. They did DNA testing and confirmed that both of them had VHL. No one else in his family has VHL. He is the first to have the disease - very rare but very possible.

I want to encourage you to gently talk about the disease with her and the fact that it can effect many people in her family if she truly has VHL - her siblings as well as any children that she may have now or in the future. The earlier the diagnosis and tests the earlier the treatment.

It took my husband's brother 15 years after my husband's diagnosis to get tested because he was so afraid of the outcome. Fortunately for him he tested negative.

Kudos to you for being such a wonderful friend and gathering all the information that you can for her.

Bless you.

Debby

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• By Bandit00
• Posted January 29, 2008 at 11:14 am

I guess I wish she would go earlier and get the test done rather than wait until April but she won't even consider the possibility she has VHL and I'm certainly not going to say anything to get her down. So, I guess she'll wait until then. My concern is that if the doctor doesn't push the issue she won't get tested then and it's her decision so we'll have to wait and see.

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• By joyceg98
• Posted January 29, 2008 at 9:58 pm

A snappish temper and mood swings can be symptoms of many things, beginning with stress.

What would you say is her most urgent medical problem? That is probably what should be addressed first.

If she has VHL and doesn't know it, there is a possibility that conditions can be misdiagnosed and not connected to the whole, and that the "sneaky" aspects of VHL might be entirely missed because no one thought to look there.

If you work one medical problem at a time, and conjecture that if she had VHL one ought to do one more test to check for what one might see in a person with VHL, then one organ at a time you can try to watch out for VHL.

That might be a better approach for her at this time, as it is less threatening. Talking with her about risk to her children and other relatives will only overwhelm her, and we don't know enough to begin talking about that yet. The first thing to do is to take care of her problems at hand, and in the doing, try to nail down a diagnosis of VHL (or rule it out). If and when there is a diagnosis of VHL, then she can talk with a genetic counselor about the possible risk to other family members.

One step at a time.

Best wishes,
Joyce

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• By Bandit00
• Posted January 29, 2008 at 11:29 pm

Well, actually she doesn't feel there are any pressing medical problems. The spots on her spine were diagnosed as benign as were the cysts on her pancreas. So she feels she is home free now so hopefully they will be proactive at her April appointment. Maybe she is right. Isn't it possible to have this combination and not have VHL or are these that unusual?

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• By elainef66
• Posted January 30, 2008 at 12:54 pm

Benign implies not cancerous: however these cysts and spots/tumors can cause inconvenient "mass effect" problems. i.e. the pancreatic cyst if in the right (or technically "wrong") spot can pinch of the duct, cutting of the flow of enzymes and disruption digestion. Similarily there is no "extra" room in the spine or brain cavity, so growing tumors, or cysts developing off the tumors can affect the nervous system very significantly (headaches, pain, loss of feeling/mobility). Then again they may just sit there.
The premise of annual screening in VHL is to watch these things, and only intervene if they show signs of becoming a problem: "a stitch in time". It also helps narrow down possible causes when trying to diagnose a "strange new problem". Incidentally, even if she does test negative for VHL knowing about these little "bugs" may be very useful down the road.

As to how unusual is it to have this combination and not have VHL? Hard to say since very few folks would ever know such things were there unless they were causing trouble - and then they'd have a diagnosis. For al the maybe's and probably's you can think of, the test is going to be the answer. It would be very interesting to us all here to hear the outcome, epecially if she tests negative...

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• By joyceg98
• Posted January 30, 2008 at 8:04 pm

There's a wonderful show about this playing this week at powerful Patient -- an interview with Deb Hogan, who "hid out" from VHL for years. She has now learned how to manage her fear, and helps others do the same.



It includes some wonderful music from her CD.



Please go to PowerfulPatient.org and listen...



<A HREF="powerfulpatient.org">powerfulpatient.org</a clinicahealth.com>



Best wishes,
Joyce

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