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The Most Horrific Disease Ever

Phil Zeltzman, DVM, Dipl. ACVS

The “hook” on the cover sounded very exciting: “Cannibals, Killer Viruses, and Other Journeys to the Edge of Science.” But I wasn’t prepared for self-cannibalism…

Richard Preston, author of “Panic in Level 4” (Random House, 2008), tells a few riveting stories for anyone interested in science.

There’s the story of a government biohazard lab where scientists study incredibly virulent pathogens. Clearly, they would be devastating in the hands of terrorists.

There’s the story of two Russian immigrant mathematicians, the Chudnovsky brothers, who built a gigantic computer in their tiny New York apartment in order to compete with other teams to calculate the value of Pi.

There’s the story of the Unicorn Tapestries, rescued from neglect in France by John D. Rockefeller for a mere $1 million, and who donated them to the Metropolitan Museum of Art.

And then there’s the story of self-cannibals, and that was the most gut-wrenching to me.

Lesch-Nyhan syndrome is a rare, inherited genetic disease (about one baby in 380,000 births). It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphor-ribosyl-transferase. The syndrome is an X-linked recessive disease, which means that the gene is carried by the mother and passed on to her sons. Lack of this enzyme causes an accumulation of uric acid in all bodily fluids, which leads to gout, kidney disease, poor muscle control and moderate mental disabilities. This appears in the first year of life. But that’s just the beginning.

The second year of life starts the most striking feature of the syndrome: self-mutilation. Affected people compulsively eat their own flesh. It mostly involves lip, tongue and finger biting. It can also lead to head banging. Some hurt other body parts, such as their eyes. Self-injury may be triggered by stress.

There are also compulsive behaviors such as aggressiveness, vomiting, spitting and coprolalia. Coprolalia has nothing to do with eating strange odorous matter. It involves involuntary swearing.

Here is one excerpt from the book. Before you read it, please be warned, THIS IS NOT FOR THE FAINT OF HEART.

You have been warned. Read on at your own risk. Here we go.

“Over time, his fingers had gotten into his mouth and nose, and had broken out and removed the bones of his upper palate and parts of his sinuses, leaving a cavern in his face. He had also bitten off several fingers. J.J. seemed happy most of the time, except when he was injuring himself.”

Now you understand what I meant by gut-wrenching.

One horrible feature of the disease is that patients are aware that they will be in pain if they hurt themselves. Yelling, reasoning or punishment will not help. The compulsion is just too strong, and nothing short of physical restraint seems to help. In fact, affected boys and men prefer being restrained, because they know that they cannot hurt themselves anymore.

The author was discussing the disease with a neurologist, who made him think about other “self-injurious behaviors” many of us have. We bite our fingernails. We chew our lips. We chew the inside of our cheeks. Some people bite their cuticles. Others bite their cuticles until they bleed. And then you have Lesch-Nyhan.  

“Where, in this spectrum of behaviors, is free will?” asks the neurologist.

Ironically, many of us may have a touch of Lesch-Nyhan…


Dr. Phil Zeltzman is a mobile, board-certified surgeon in Allentown, PA. His website is www.DrPhilZeltzman.com. He is the co-author of “Walk a Hound, Lose a Pound: How You and Your Dog Can Lose Weight, Stay Fit, and Have Fun Together (Purdue University Press).”

* Random House 2008

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