Could I have VHL after all?

• By sunda1
• Posted August 31, 2008 at 5:20 am

I was confirmed to have VHL post brain surgery (bilateral cerebella haemangioblastomas) and about the time both my kidneys were removed. Apparently this is all pretty normal with late life diagnosis. The reason my diagnosis was so late in life (40) is that I have a spontaneous case meaning not past on from a parent, so no reason for early testing. It happened invetro on or about day two or three according to genetic counsellors I spoke to after the fact. Only a percentage of my cells are affected and therefore did not develop symptoms in my teens as most sufferers do where the gene is passed on from a parent. My first test was carried out in a UK lab as facilities are not available here in Ireland. It took about three months for the lab to detect a defect in a mosaic form. c.430delC (p.Gln 73 ArgfsX86) mutation in exon 1 of VHL.

I wanted to get my children tested immediately after my surgery but was discouraged to do so for reasons I cant get into. I decided to travel abroad to get the testing done in a private clinic unaffected by the BS of our health care system. The lab required a sample of my blood as well as my kids to proceed. After about six weeks the councillor called to ask if I had been actually diagnosed as they could not initially find a defect. I told them that I would forward my results which I did. They confirmed the original test shortly thereafter. Based on this event I believe that it is possible to get a false negative especially if not all of your cells are affected.

Note: I am not a geneticist and the information above is my interpretation and understanding of what I’ve been told over the past two years.

Good luck

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• By JennyBlue
• Posted August 31, 2008 at 8:07 am

There are a few families out here who's mutation is untraceable, and yet without a doubt from the number of those affected, and the number of incidents of VHL characteristic symptoms, we are remain clinically diagnosed, but not genetically confirmed. At my recent annual meeting with my geneticist, she said it happens in only about 1% of the VHL population. Unfortunately, it means that confirmation of the diagnosis is post-symptom/incidence, and no amount of present genetic testing can tell if one child is "in the clear" or not. I have had three genetic tests. One with three generations of samples taken, and two post-op on the affected tissues only. My father has been tested four times, my uncle three. None of these tests (most recently conducted by NIH) could confirm or deny our clinical diagnosis.

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• By gale
• Posted August 31, 2008 at 12:03 pm

Yes, you could have VHL even if the test is negative. Before DNA testing was even available, they determined if someone had VHL by having 2 VHL manifestations.

Make sure everyone is aware of a possible pheo before any possible surgery.

I can't seem to get to the VHL.org web site at the moment, but try going to the vhl.org and look for Clinical Care Centers. Look for one near you and the doctors should be familar with any possible VHL manifestations you may have.

Let us know if there is anything we can do.

Gale
us-fl@vhl.org

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• By Dig62
• Posted August 31, 2008 at 5:31 pm

Thank you all so much for your valuable insights.

I wanted to add some additional info if only for my own documentation purposes. Please don't feel obligated to read it all. It just really helps to keep track of these things online because it provides a written record. Thanks in advance for allowing me to blather on about myself.

1. When I visited the cancer genetics folks in Pittsburgh last year they felt that my case was highly suspect for VHL, but there simply wasn't enough clinical evidence at the time. I'm wondering now if the addition of a cyst on my left kidney provides that.

2. When speaking of a clinical diagnosis based on two or more characteristic tumors, would both kidneys and an adrenal gland count as three, two, or one single manifestation?

3. I would like to be checked out for an ELST. I've been experiencing terrible bouts of vertigo for several years now, dizziness, persistent headaches, and loud tinnitus (hissing) in my left ear. My ear feels 'full' all the time and I can't hear well out of it, despite there being no outward evidence of infection.

4. I've had recurrent hydroceles since my twenties and have been operated on twice. They always come right back after surgery and I've had persistent pain down there for 15 years. I gotta tell you it's not real fun having constant pain in your nether-regions. I was told it's 'just one of those things' and that I should just 'deal with it'.

5. This large cyst on my cerebellum was written off as an arachnoid cyst and my neurologist told me it couldn't possibly be causing my headache, despite the fact that my headache originates from that exact spot. It is my understanding that these cysts can form around hemangioblastomas, but my neurologist will not explore that.

6. Chronic maxillary sinus infection noted on all MRI's since 2003. No drugs have been able to touch it and even sinus surgery didn't fix it. Don't know if this has anything to do with VHL but thought I'd mention it anyway.

7. I have hypertrophic cardiomyopathy of the heart which is quite serious and is supposed to be genetic, although nobody else in my family has been diagnosed with it and I come from a family of seven. I am now wondering if this could be VHL-related.

8. All of the above are well-documented in my medical record.

9. To be perfectly honest, ever since I had the kidney cancer I have felt like my body is constantly fighting 'something'. I'm just plain exhausted all the time and feel like I have the flu 24/7. This just can't be normal.

10. In summary, it just seems unlikely to me that all of these myriad separate events are unrelated. Nobody can be this 'unlucky'. If not VHL, there has to be 'some' underlying cause to all these tumors, cysts, and whatnot.

Thanks for listening,

Jim

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• By Louise45
• Posted August 31, 2008 at 9:08 pm

Sorry but it could be VHL.I have kidneys surgurys.And now my daughter 24 years old has a tumor on her kidney.He has to go for surgury as soon as possible.

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• By Kristel
• Posted August 31, 2008 at 11:00 pm

You have to trust your instincts. You should at least find a doctor that will screen you for all VHL manifestations. I would get a new neurologist ASAP if they won't even look into what you suggested or explain why that is not it. One thing about having a serious medical condition is you have to be your own advocate. One of the centers like Gail suggested might be a really good idea for you.

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• By Kristel
• Posted August 31, 2008 at 11:15 pm

I also wanted to mention that you should try to eat healthy. If you are feeling tired all the time, part of it can be lifestyle. It is especially important when your body is having to fight a disease to nourish it very well. You are already at a disadvantage so it's not good to eat badly on top of it.

Stress and depression can cause you to feel tired all the time as well. I don't know if any of this applies to you. I just wanted to throw it out there just in case it might help.

Good luck in your search for an answer.

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• By donnab
• Posted September 1, 2008 at 1:33 am

I have to agree with the advice given to you. If there is not a clinical care center for VHL near you, email Joyce, director@vhl.org and she can check with a chapter person in your state to see if there is a neuro that is familiar with VHL near you.

If it were me, I'd have that cerebellum tumor followed up on to make sure it's not VHL related especially with the kidney cancer in your past.

I'd probably think about re-testing for Pheo again and make sure the tests are done properly. I beleive the testing proceedures can be found in the VHL handbook at the vhl.org website along with the diet restrictions before and during testing.

If you are checked for ELST make sure the neuro knows what MRI standards to order. Those tumors are so small that they can be easily missed if not done correctly.

Kristel is 100% correct about eating right. Whether it's VHL or not your body is using it's energy to deal with the other symtoms and issues going on with it, you have to fuel your body to your best ability so it can help itself as much as possible.

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• By Dig62
• Posted September 1, 2008 at 5:52 am

Hi and thanks again.

You've all provided such great advice.

I don't wish to overload you with information but I also wanted to mention that my sister was diagnosed with Parkinson's ten years ago. The interesting thing is that several of her doctors still disagree with that diagnosis because she is missing several key symptoms of Parkinson's. She doesn't have the tremors. They made the diagnosis because of her motor problems and the fact that they couldn't find anything else to explain her symptoms.

Now recently she was found to have multiple cysts/tumors in her uterus and had to undergo a hysterectomy. I don't know if her problems are related to mine but I'm hoping that if we find out what's wrong with me it will benefit her as well.

Jim

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• By gale
• Posted September 2, 2008 at 8:38 am

This was written in another post "Yes, there is a possibility that these symptoms could be VHL. A hydrocele is a possible misdiagnosis of an epididymal cystadenoma of VHL. If it's VHL, the hepatic hemangioma is usually not a major issue, so that would be a good reason to wish it's VHL."

There are two CCC's in PA. Here is the info. Call ASAP
Pennsylvania:

Hospital of the University of Pennsylvania, Philadelphia, PA. Barbara Bernhardt, Genetic Counselor, Tel: +1 (215) 662-4740; Fax: +1 (215) 614-2098. Their website is http://www.uphs.upenn.edu/penngen/

University of Pittsburgh, Pittsburgh, PA. Darcy Thull, MS, Genetic Counselor, Tel: (800) 454-8156 or (412) 641-1466; Fax: (412) 641-1132; E-mail: dthull@mail.magee.edu

Be well,
Gale

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• By joyceg98
• Posted September 3, 2008 at 4:45 am

The neurosurgery department at the University of Pittsburgh is very familiar wit VHL. See www.neurosurgery.pitt.edu.

Much good input above. Yes, it is possible to have a clinical diagnosis of VHL but not be able to obtain DNA confirmation. It is not common, but it does exist as you have heard above.

The symptoms you describe for your ears do sound like they could be an ELST. The diagnosis you have been given for the brain structure is not the classic description of a VHL hemangioblastoma, but it could be a difference in the interpretation of the pathologist.

I would suggest since you are near Pittsburgh that you make contact with Dr. Lunsford and colleagues in the neurosurgery department and ask them the questions you pose above -- could this be VHL? Is it possible that the recurring cerebellar cyst is an undiagnosed VHL tumor generating that cyst? And ask them also to evaluate the Internal Auditory Canal for a possible ELST.

Did your sister have a spinal MRI with contrast? It is possible that here motor problems might be due to a VHL tumor of the spinal cord or brain.

The next time either of you has tissue removed (hydrocele, uterine cyst;tumor, etc.) ask them to analyze the tissue for a VHL mutation.

There is another phenomenon which could be at work, and that is "methylation" of the VHL gene -- another way that genes can be turned off without an actual alteration in the sequencing of the gene.

But the first step is as you say to get a handle on whether there seems to be a clear clinical diagnosis of VHL, and the only way to get that is through evaluation by a team that is more familiar with VHL than the physicians you have been dealing with up to this point. You will find such a team at U Pitt, going through the VHL clinical care center there, or through neurosurgery (not neurology).

Best wishes,
Joyce

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• By Dig62
• Posted September 6, 2008 at 7:37 pm

Hi Joyce, and everyone.

Thanks so much for all the great advice.

I'm kinda stuck between a rock and a hard place because there is simply no way I will get a referral to a neurosurgeon. Just not gonna happen. The best I can hope for right now is an oncologist. My primary care physician does want me to see one because oddly enough I never have, even when I had kidney cancer. My nephrologist handled all of that.

I'm going to try and seek out an oncologist who is knowledgable of VHL, and he/she can possibly order the necessary brain scans and consult with a neurosurgeon that way. Seeing an oncologist for these new tumors is a good idea anyway, and maybe I can get what I need in a roundabout way.

Jim

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• By FranMott
• Posted September 7, 2008 at 3:39 am

-just wanted to chime in on the diagnosis of hypertrophic cardiomyopathy that you listed with the other issues you wrote about.

Assuming that this has been correctly diagnosed, it can indeed be hereditary but it is not related to VHL. Any of us can have VHL and still have other unrelated disorders also. I have VHL and hypertrophic cardiomyopathy myself, along with a few other syndromes and disorders. That does not mean that my family members had it or that my children have or will have it. It means that they are at-risk and should be watched and monitored for this heart problem yearly, as with their VHL issues. You have gotten a lot of good advice in the e-mails, particluarly about seeking good medical care from a well respected medical center. You need a team of good physicians caring for you - specialists in the different organ systems that VHL can affect, who are very familiar with VHL. You'll need to add Cardiology to that list of specialties if you have not already. I see a Cardiologist who actually specializes in hypertrophic cardiomyopathy along with all my VHL doctors. That doctor needs to be part of the team too.

Try not to get too discouraged. Most people have something wrong and many in the general population have numerous serious problems. Often they simply may not know it yet. Try to think of it as having an advantage. We've found out what we have, so we have a better chance than they do to manage those things that could negatively affect the quality of our lives. I'm aware that probably seems like a real understatement because of how serious this heart problem can be. But you are still here, I am still here, and so are other people with this same problem. Educate yourself. Keep in touch with your doctor. Get regular cardiac monitoring. Be heart-health conscious, and be especially careful to follow ALL of your doctor's instructions and advice. Always check with your heart doctor before starting any new physical activity, exercise program or before deciding to try ANYTHING new...and that includes medicines, herbs, supplements and such.

I've only been on this earth for 58 years, but I intend to be around a long time fighting my VHL because I have a lot of other things to do yet in my life. I'm sure you do too. My coordinating physician, when reading my hypertrophic cardiomyopathy diagnosis when it was first confirmed said, "My goodness. Do you have anything left that's problem free?" Realizing he hadn't put a lot of thought into vocalizing that comment, I pulled off my sock and shoe, stuck my foot up in the air in front of him and said, "-Big toe's been pretty good so far." I think he's still laughing.
Hang in there.

Best Wishes,
Fran
Michigan

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