House: Finding A Diagnosis
House's team put two parents through the ringer for our viewing pleasure this week. Here's the diagnostic recap: "Your kid has pancreatitis. No wait...she has gallstones and needs surgery. No wait, she didn't really need the surgery, but she has this weird rash. It's allergies. No wait, it's Reye's Syndrome. Actually, it's flesh eating bacteria and we need to amputate her arm."
Finally, the real diagnosis, hard fought, was found: erythropoietic protoporphyria (EPP). The kid was basically so sensitive to visible light it causes a skin reaction.
EPP is a rare genetic disorder where an enzyme called ferrochelatase (FECH) is impaired and leads to the buildup of protoporphyrin in your body, causing your skin to be irritated by sunlight and even artificial light in some cases. The build up also causes problems with the liver and can cause gallstones, again, just like the little girl House didn't diagnosis, actually. Chase did. Score one for the sycophant.
The blistering and rash on the girl's body was characteristic of the disease and surgical lights can indeed cause that blistering, according to Louise Chang, MD -- one of our medical reviewers and a smart cookie. She said even sunlight streaming through a window can be a problem.
But folks with EPP can live fairly normal lives provided they take a few precautions, Dr. Chang said.
"The degree of light sensitivity varies. Activities and lifestyle need to be adjusted accordingly to avoid light exposure. This might mean picking a job indoors or night work, keeping skin safely covered to avoid exposure, window coverings. EPP isn't the only condition that causes sun sensitivity. There are support groups and a camp for children and families available year-round."
So what did House think the child had? Necrotizing fasciitis, or more widely known as "flesh eating" bacteria, for which there is no known cure. He was mighty quick to ask the child's parents if he could cut off the affected limbs. Why was he willing to be so rash? Dr. Chang said speed is of the essence.
"It is an aggressive infection, with about 30% of those infected dying from the disease. People at risk include those with weakened immune systems, other chronic or serious medical conditions, skin wounds - such as a cut or scrape, sores from a rash or chickenpox--taking certain medications or receiving treatments which may weaken the body's immune system.
Early treatment is crucial. This can consist of antibiotics and surgical removal of infected fluid and tissue. In severe cases limb amputation may be necessary to avoid death from overwhelming infection. These patients are very sick, so complications such as shock must be anticipated and treatment made accordingly."
Yep. Parenting ain't easy. Neither is being sick with House on call whether his diagnosis is right or wrong.
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