Hi,
I have VHL and my little niece in North Carolina is having a terrible time right now. She is losing weight rapidly, can barely eat, and when she does it has to be a baked potato or something very mild. They think she has Crohn's disease, yet because that doesn't run in our family, I asked them to check her and get her tested for VHL. They have done this. Does anyone know if there are symptoms of something with VHL (pancreas tumor, adrenal gland, etc) that could mimic Crohn's? I just want to be able to leave them alone, maybe they are right. I just can't get it off my mind and feel so concerned about her. For some reason, none of my family in the south will take this illness seriously and will not get tested. I feel at a loss. Thanks for all your help!
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child with crohn's symptoms- could it be VHL?
- By kimbre
- Posted July 28, 2009 at 6:23 pm · 4 replies
- In Getting a diagnosis
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Explore topics in this discussion:
Surgery Crohn's disease Diarrhea Kidney stones Bloody stools
4 replies
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- By kimbre
- Posted July 29, 2009 at 10:46 am
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oops- i saw above that i said they did test her. they have NOT.
- By joyceg98
- Posted July 29, 2009 at 3:32 pm
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The pancreatic tumors might create symptoms such as you describe.
Have you had DNA testing yourself? If so, the easiest way to start might be to ask if they would do the DNA test simply to "rule out VHL". If they have your DNA results to go by, it would be a "direct test" which does not take as long and is less expensive. Having those results would give us a better idea what would need to be investigated.
The other thing would be to get a CT of the abdomen, looking especially at the pancreas, kidneys, and adrenal glands. Pancreatic cysts and tumors can cause significant gastric upset. If they balk at a CT, see if they will do an ultrasound. While ultrasound is generally not a good screening tool (it misses a lot), in this case the tumors or cysts might be big enough that they would be hard to miss.
You might want to put in a call to Dr. Libutti in New York and ask him if he would be willing to talk with this girl's local pediatrician about what needs to be examined. The pediatrician would need to call him, but his advice would be great to have here.
Dr. Libutti's office in New York is 718-920-4800
- By klenahan
- Posted July 30, 2009 at 9:44 am
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Hi Kimbre, I have had Crohn's disease for over 30 years. It is very, very different from VHL which I also have. As a matter of fact, I am at home now recuperating from yet another difficult Crohn's surgery. I understand your concern for your family but if they are doing all the standard testing for Crohn's they will be able to make a definitive diagnosis. It is a very challenging disease particularly for a small child. However, much more is known about it now than 30 years ago. My VHL diagnosis came as a result of kidney stones caused by the Crohn's.That's how we found the cancerous tumor in my left kidney-another surgery. I also have VHL involvement in my eyes. I had the DNA testing done at Hopkins but they couldn't find the mutation, therefore the mosaic explanation. There are some pretty effective drugs now that treat Crohn's but everything comes with a side effect. Crohn's drugs usually suppress the immune system which is the last thing you want to do if you have VHL. I'm a "unique" case, between a rock and a hard place. Bottom line--they should be able to tell Crohn's from VHL. Feel free to contact me anytime and let me know how you and you're niece are doing. Hang in there!!!! Karen
- By TinaDiane
- Posted August 1, 2009 at 8:46 pm
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Hi,
Does your niece have bloody stools or just an upset stomach with diarrhea and wt loss? Is her blood pressure normal? She could have pheochromocytomas on her adrenals but blood in the stool would point more towards Crohns.
Tina
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