Housewatch, episode 4.2
Last night on House, M.D., the young Air Force pilot was finally diagnosed with Von Hippel-Lindau disease, a rare genetic disorder that causes abnormal growths throughout the body. The process, called angiomatosis, leaves the patient with cysts or tumors scattered throughout the body. The pilot happened to have hers in the liver and brain, although the blood vessels, kidney, pancreas and retina of the eye are common locations too. It occurs worldwide, in about 1 in 32,000 people.
The gene that causes the disease is located on chromosome 3. It is a tumor suppressor gene, which, when lost, lets cellular division go out of control. This can lead to the overgrown blood vessels, which turn into cysts and in the worst cases, cancer. It is an autosomal dominant disorder, which means only one copy is needed for the disease to occur.
Chase showed up to posit that the pilot's panic attacks were caused by a pheochromocytoma, a known early sign of Von Hippel-Lindau. (One researcher has suggested pheochromocytomas aggravated the Hatfield-McCoy feud. ) A pheochromocytoma is a small tumor in the adrenal glands on top of the kidneys that secretes too many stimulating hormones, like adrenaline, into the bloodstream. This is logical, considering VHL can often cause abnormal growths in the kidneys.
The pilot's original complaint was synesthesia, which is a confusion or overlapping of the senses. The most common form is associating sounds with colors. For instance, a flute would be associated with bright red. I searched PubMed for "synesthesia and von" and "synesthesia and hippel". Both came up with zero results, so I wonder if the writers just made that up.
Addendum: Given that Cameron was only onscreen for 60 seconds, she still managed to be quite annoying. House was right, she did look like a cheap hooker. Dark hair and blue eyes is a much better combination.
The gene that causes the disease is located on chromosome 3. It is a tumor suppressor gene, which, when lost, lets cellular division go out of control. This can lead to the overgrown blood vessels, which turn into cysts and in the worst cases, cancer. It is an autosomal dominant disorder, which means only one copy is needed for the disease to occur.
Chase showed up to posit that the pilot's panic attacks were caused by a pheochromocytoma, a known early sign of Von Hippel-Lindau. (One researcher has suggested pheochromocytomas aggravated the Hatfield-McCoy feud. ) A pheochromocytoma is a small tumor in the adrenal glands on top of the kidneys that secretes too many stimulating hormones, like adrenaline, into the bloodstream. This is logical, considering VHL can often cause abnormal growths in the kidneys.
The pilot's original complaint was synesthesia, which is a confusion or overlapping of the senses. The most common form is associating sounds with colors. For instance, a flute would be associated with bright red. I searched PubMed for "synesthesia and von" and "synesthesia and hippel". Both came up with zero results, so I wonder if the writers just made that up.
Addendum: Given that Cameron was only onscreen for 60 seconds, she still managed to be quite annoying. House was right, she did look like a cheap hooker. Dark hair and blue eyes is a much better combination.
Labels: biology, HouseMD, medicine, television
posted by philip at
9:33 AM
2 Comments:
In VHL, hemangiomas of the lung and liver are rare; hemangiomas of the retina, brain, spinal cord, kidney, pancreas, and adrenals are the most common. Not everyone gets all of the above, usually just two or three locations.
Pheochromocytoma (the tumor on the adrenal gland) occurs in 17% of people with VHL, and it also occurs in the general population and in people with any of four other genetic flaws. Pheos can send your cardiovascular system into overdrive, which can cause a number of other consequences including high blood pressure, heart disease, and stroke.
As for the synesthesia, depending where the brain tumor was located this might have been a symptom of the brain tumor. I'll go watch again more closely.
If you would like more information about VHL and/or pheochromocytoma, please see http://www.vhl.org
Best wishes,
Joyce Graff
Director, VHL Family Alliance
vhl.org
Evidently synesthesia can be caused by an overload of adrenaline (from the pheo).
Remember that any "case study" (like this one) has its own uniqueness. There is no such thing as a "typical" case of VHL --with six possible tumor types, much depends on which one comes up first.
We are posting other notes from our medical advisers as they come in.
Regards,
Joyce Graff
http://www.vhl.org
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