von Hippel-Lindau Chuvash Polycythemia

Our guest this week is Shannon Wyatt.  Shannon has an extremely rare condition called von Hippel-Lindau Chuvash Polycythemia (we will abbreviate to VHL).  Her only symptom that led to finding VHL was that she was diagnosed with kidney cancer at 34 years old, that didn’t even have any noticeable symptoms, it was just an incidental finding on an MRI, but when they took it out, they found it was malignant. A few years later, it was pulmonary embolisms in both lungs after a routine gallbladder removal that pointed to Chuvash Polycythemia after many previous labs had raised suspicion of it.

Common signs and symptoms for VHL include:

Tumors and hemangiomas of the kidneys, pancreas, adrenal glands, liver, eyes, brain and spinal cord

Chuvash Polycythemia is typical know for causing:

Noticeable symptoms are fatigue, headaches, a reddish complexion, and itching. Dangerous underlying issues are blood clots and high pulmonary blood pressure with low systemic blood pressure.

Chuvash polycythemia is a rare, inherited disorder that is endemic to the Chuvash Republic of Russia, though it does occur in other parts of the world. NIH studies rare diseases not only to help the people who have them, but also to gain insight into gene functions that may benefit people with more common conditions.  Complications of Chuvash polycythemia include blood clots and cerebral hemorrhage. The condition results from a genetic mutation that makes people unable to break down hypoxia inducible factor 2α (HIF2α), a protein that helps stimulate red blood cell production. The inability to degrade HIF2α leads to higher red cell production, even under high-oxygen conditions.