Dr. Cliff's Disease of the Week!

On this page I'll take a disease at a time, not really once a week since I actually work and stuff like that, and write a little blurb about what it is, who gets it, how it may affect them, how often it occurs, and so forth.  This could serve several potential purposes.  You could:

  • Feed your hypochondria by convincing yourself you are afflicted.
  • Learn the symptoms and convince your doctor you are afflicted.
  • Convince someone you don't like that they are afflicted.
  • Ponder the depth and breadth of medical knowledge available to us today.
  • Thank your stars you are not afflicted.

Or, any combination of the above.  I'm getting this info from MMWR, WHO, and my training.

Disease of the Week Table of Contents

The first problem I want to talk about is cancer- specifically, cancers of the head & neck area.  These add up to more than 40,000 new cancer cases per year, in the US alone. Typically there is an association with smoking, and drinking as well.  The World Health Report 1997 tells us that about one in seven cancer deaths are directly attributable to tobacco- that means a million people die every year because they smoke(d).  On a lighter note, non-smokers die too, and, well, like cancer patients tend to say, you gotta die from something.
Head & neck cancers carry a very poor prognosis, and 5-year survival estimates range from 5% to 50% depending on who you ask.  There are several contributors to the low survival-
  • There's no spare parts in your neck.  Everything there, is there for a reason.  A tumor in this area will affect structures critical to survival, e.g. major nerves & vessels, breathing/eating apparatus, etc.
  • Surgery is either difficult or impossible, depending on tumor size, type, & location.  The head & neck is the most anatomically complex area of the body.  Patients are also very reluctant to have something important removed, like their larynx or their mandible.  Many would rather die slowly than live a little longer without being able to speak, or see, or eat solid food.
  • Heavy smokers/drinkers tend to be more cavalier with their health.  Patients often present with a lump that has been bothering them for a couple of years, and by that time the prospects may be pretty grim.
  • Lifestyles are also hard to change overnight.  We've all heard tales of cancer patients and emphysemics who smoke on their deathbed.  I've seen patients in that category and it is depressing and frustrating.
So, what can someone expect who has just been told they have a tumor in their head or neck?  I write in a very direct style, so this may seem brutal.  They probably just found out what they will die from.  Each case is unique, but some pundits feel that 5-year survival is not greatly improved by any current therapy.  The best predictor of survival may be the patient's outlook, as is the case with many other life-threatening conditions.  'Keeping your chin up' can help keep you alive.
At the NIH, patients are given the best options and receive state-of-the-art treatment. This usually involves a combination of the 'big three'- surgery, radiation, and chemotherapy.  A delicate combination of these unpleasantries, ideally, would destroy the tumor(s) but not the patient.  It doesn't always happen that way.  A healthy 25-year-old would be gravely challenged by treatment this invasive, and most head & neck patients are neither healthy nor 25.
One thing to expect, is that the hospital dentist may want to remove several or all of your teeth.  During and after therapy your body can't tolerate routine dental care very well.  If you have a cavity or a broken tooth, that tooth has to come out before therapy begins.  Otherwise, later, you could die from a tooth extraction (because of compromised wound-healing) after surviving a tumor.  The irony would be lost to you.
Even the lucky survivors have serious changes in the quality of their life.  Surgery may have taken something they now miss dearly- their teeth, their voice, an eye.  Maybe the patient has a tracheostomy tube now, talking and/or feeding through a hole in their neck.
Radiation therapy leaves tissue with a very poor blood supply, which delays wound healing.  Little pieces of dead bone (sequestrae) may break off and begin to migrate, slowly, painfully, out into the patient's mouth.  Salivary glands in the radiation field don't work any more.  This chronic dryness leads to markedly increased oral infection and tooth decay problems.  It is also difficult to wear a denture because the supporting tissue is so fragile, and injury from an ill-fitting denture could lead to life-threatening problems.  So patients may be on a soft-food diet for the rest of their lives.  This can be a major contributor to the depression which often overwhelms these patients.
A lot of current patients learned to smoke when we were all a little less aware of the dangers, and my heart truly goes out to them.  Younger people have no such excuses, and in twenty years, I will be hard-pressed to grieve for someone who has deliberately destroyed him/herself.  I think that tobacco may be the most powerful threat to human health ever encountered, and the suffering and death created are totally preventable!  Please don't smoke (or chew, or dip). 

Table of Contents

Tooth Decay.
Is tooth decay really a disease?  Yes, it is.  It is an infectious disease, caused by specific bacteria.  These bacteria are present in everyone's mouth, and will thrive and multiply anytime they get the chance.  When these bacteria metabolize sugar (specifically sucrose, or table sugar), they produce acids that leach minerals from the teeth.  This softens and discolors the tooth, resulting in what we all know as a cavity.  Left untreated, the decay will spread into the tooth's pulp chamber, which is filled with nerves and blood vessels.  At this point, the only hope for saving the tooth is a root canal, where the pulp chamber is cleaned of all living tissue and sealed.  If the root canal fails, the tooth has to come out.
So, if this problem is so simple to understand, why do we still get cavities?  Why hasn't some Jonas Salk or Albert Schweitzer cured tooth decay?  Hey, we're working on it.  In the meantime, patients need to learn the best ways to take care of their teeth.  Prevention is still the best course of action.  Patients say things like "I got my dad's bad teeth", when really they probably got their parents' bad habits.  Teeth are teeth, with few exceptions.
Fluoride toothpastes and dental floss are the big weapons against tooth decay, and used regularly, they're very effective.   So brush twice a day, floss once a day, and get to your dentist for a check-up.  Most of the horror stories associated with dental care can be avoided by proper oral hygiene.
Table of Contents

Proteus Syndrome
is an extremely rare disorder, first reported in 1979. Only a few dozen patients have been diagnosed since. It was named after the Greek god Proteus, who could change his shape at will to avoid capture. The clinical manifestations are extensive, including  abnormal outgrowths of cranial bones, progressive asymmetry and disfigurement of the skull, hemihypertrophy (one side of the body is larger than the other), 'lumpy', irregularly pigmented skin, due to several types of benign tumors, partial gigantism of the hands or feet, scoliosis, and marked asymmetry of the limbs.
The result is that these patients often resemble fun-house mirror reflections, or mythical 'shape-changing' creatures caught in the act (hence the name). Severity is highly variable; some Proteus patients survive to independent adulthood and some expire shortly after birth. Mental function is usually normal, although psychosocial development is probably influenced by the patients' level of overt disfigurement. It is morbidly fascinating to see a human body in this chaotic state, and it is tragic that these patients are fully cognizant and of normal intelligence. Imagine being regular Joe, but looking like half of your body started melting and stretching, like a crayon in the sun.
Even mildly affected Proteus patients typically require some amount of corrective/amputational surgery, and should be kept under supervision for management of the various benign tumors which will occur. 
It is currently thought that Proteus arises from a sponteneous mutation in a single gene, resulting in the defective delivery of a single growth factor. All these bizarre effects from a single gene defect; it awes me to ponder how complicated we really are. The higly-publicized human genome project? The most ambitious endeavor in the history of biomedical science? It's about as useful for understanding Proteus, as the wheel was useful to Einstien. We've got a long way to go.
Table of Contents

Lesch-Nyhan syndrome (LNS)

is yet another complex problem brought on by a single genetic defect. One defective enzyme, out of the thousands working in the human body, can lead to problems of staggering complexity.

LNS children do not process one particular metabolic waste chemical properly, resulting in a buildup of uric acid in the body. This is the same 'uric acid buildup' commonly associated with gout, and in fact the same treatment, allopurinol, can save LNS patients from gout symptoms. But there is something more; something terrifying yet fascinating.

LNS children develop 'itches' or 'funny feelings', typically in their lips and fingers, but sometines also in their ears, nose, or toes. These areas will be compulsively chewed or clawed apart by the patient, even though the patient still feels pain like you or me. Children with LNS will often 'eat' their own lips and fingers if not physically prevented from doing so. Although LNS children are often behind the average in mental & social development, the social stigma of being a 'lip-eater' is still unfathomable to you or me.

Even more bizarre, LNS patients often develop 'fetish' areas which must be mutilated at all costs, while other, similar body parts are of no real interest.

A colleague who is faculty at UCLA Medical School relates a chilling anecdote on the mystery of LNS:

As an intern, I worked in a ward full of 'challenged' children- Tourette's, Athetoid CP, everything. Especially disturbing was an 8-year-old boy with LNS. He was utterly helpless to stop his self-mutiliation, despite being mentally 'normal'. He would sit at his desk and play happily, with his right forearm (the 'fetish') bandaged and taped to the desk. He knew he couldn't get to his right hand to chew on it, so he was OK. Every few hours, a nurse would come to change the dressing on his right arm. As soon as the nurse began to unfasten the boy's arm from the desk, he would become hysterical. He would cry and beg the nurse not to uncover his arm. As soon as the right hand was uncovered, the boy became summarily obsessed with putting the hand in his mouth and chewing on it, even though it was clear he felt pain and was terrified of this outcome. The nurses would fight the boy long enough to dress his wounds and tape his arm back down to the desk, and the boy would almost immediately go back to being a 'normal', conversant, active little boy. He was left-handed, and would no sooner chew a finger off his left hand than I would. But a different boy emerged when his right hand was in sight, and the boy knew enough to be horrified by this.

Bear in mind, again, this complex and disturbing behavior is caused by a problem in a single enzyme. For these reasons, it strikes me as unforgivable hubris to declare that the 'Human Genome Project' will result in the cure or prevention of even one single disease. There's a little more to human behavior than single genes making single proteins which do single jobs. The human genetic sequence is of absolutely no use without a better understanding of its meaning, much as a phone book means nothing to a man with no phone.

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