It's a very interesting case. Don't forget that any one case will not by "typical" -- every person with VHL has a somewhat unique experience. We are delighted to see greater visibility of the diagnostic challenges that go with a complex condition like VHL, and the respectful handling of an individual's health.

Rare does not mean non-existent! One person in ten is dealing with some rare disease. Everyone deserves a diagnosis, which is the first step to getting their health back. We applaud the writers, producers, and actors of House!

Guide to the TV Show with a capsule summary

The episode will be on Fox On Demand by the end of October 2007. It is expected to be re-broadcast on USA channel about October 14.

Buy the download from Amazon for $1.99

Notes to fill in the blanks

Case study. Whenever we study the experience of one person, there are unique aspects of the case. This script raises some unusual aspects of VHL.

synesthesia ("hearing through my eyes") - The pilot's original complaint was synesthesia, which is a confusion or overlapping of the senses. Evidently an overabundance of adrenaline (from the pheochromocytoma that caused her heart attack) can cause synesthesia.

liver - Hemangiomas can occasionally occur in the liver. They rarely cause problems in the liver. Rule out mets from kidney or pancreas (unlikely if tumors are under 3 cm.) They check the liver, but it's clear.

lung - We occasionally see lung cysts (or hemangiomas) on scans among people with VHL. As in the liver, these are generally not a problem, though they always raise concern. Rule out mets from kidney or pancreas (unlikely if tumors are under 3 cm). NIH will soon publish new data on lung cysts, but they generally occur in fewer than 1% of people with VHL.

pheochromocytoma - a tumor of the adrenal gland or anywhere along the sympathetic nervous system, that runs from neck to groin on both sides of the body. The "flutter" of her heart was caused by an overproduction of hormones. She has a high heart rate and a panic attack or "psychotic attack." They check the thyroid, but it is functioning normally. In the operating room scene, Case theorizes from the balcony that one of those lung cysts is a pheochromocytoma. We do not hear the detailed lab report, but the assumption is that he is correct. They remove the lung cysts and the pheo laparoscopically through the ports inserted under the openings made to do the "boob job". One of the candidate doctors says "the trocar is in place." A trocar is an instrument used to begin an endoscopic procedure, and we see the video image of the lung cysts from the endoscopic camera.

Some related references and blogs and such

VHL Handbook

http://vhl.clinicahealth.com

http://forums.fox.com/foxhouse/start

http://www.philipdowney.com/weblog/

http://www.housemd-guide.com/spoilers.php

Do you have other questions? Please send them in and we'll get answers for you.

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