Von Hippel Lindau Syndrome

[myarabella]

Hi APS friends- 2 years ago I underwent a partial nephrectomy to remove a large (2 inch in diameter) tumor in my kidney. Pathology showed that I have/had clear cell renal cell carcinoma (ccRCC). Throughout my life small tumors have been found in different places in my body, but all benign. I was doing some research and came across Von Hippel Lindau(VHL) Syndrome when I searched under tumors and ccRCC. The medical papers stated that 70% of people with VHL get ccRCC and most people with VHL die from ccRCC because it goes undetected, metastisizes and spreads. I saw my Oncologist for my 1-year post op and I asked him about VHL, thinking that I have had too many of the symptoms to ignore this. He told me that the hospital still had my tumor and he requested a genetic test on the sample. Sure enough, I tested positive for VHL. I am one of the lucky ones that accidentally for the kidney tumors during a CT scan for something unrelated. Most people find out they have this rare genetic disorder in early adulthood and typicaally do not live past 60 years. I am in my late 50's. So, my question for those who have read this far, is have any of you had kidney cancer or Von Hippel Lindau? I am so curious if a correlation has been found between APS and VHL?

[KellyInTexas Administrator]

thanks for sharing this knowledge- and I’m so glad yours was caught early. ( I remember this was a very difficult time you went through.

What a great thing self advocacy is!

It will be interesting to see what responses you hear back.

I assume you are now being screened annually throughout your body for carcinomas to stay ahead of this? What kind of scans? Any blood markers as well?

[myarabella in reply to KellyInTexas]

Hi! I have to now determine if the genetic situation is germline or acquired. The results will dictate how we move forward with screening. Scary stuff!

[MaryF Administrator]

Hi, I am not aware that there is a connection, and really glad yours has been caught at the right time. I have not heard of anybody with both conditions. I hope the tests are detailed. MaryF

[myarabella in reply to MaryF]

Thx Mary.