By DAVID A. SHAYWITZ, M.D.

I met Tom seven days before he died. He was transferred to our hospital with the slim hope that he could receive a combined heart-liver transplant.

Donor organs never became available. He died during a desperate resuscitation attempt in our intensive care unit, his unnaturally bronzed 55-year-old body barely visible beneath a tangled mass of tubes, lines and wires. But ultimately, Tom did not die because of the technical limitations of medical hardware. Rather, he died because two decades ago, when his first symptoms appeared, no one thought to search for their underlying cause.

Tom was in his early 30's when he lost interest in sex and was bothered by achy joints. He saw his doctor, who found Tom's testosterone level to be extremely low. Tom was started on testosterone treatment, as well as over-the-counter anti-inflammatory medication for the arthritis. Tom's libido returned, and his joints improved; the medications seemed to work.

Gradually, Tom's skin became darker. He attributed this to a tan, though he spent little time in the sun. A year ago, he noticed difficulty exercising. His abdomen began to swell, and when he could take only a few steps before becoming short of breath, he came to the hospital.

Tom's condition was diagnosed as hemochromatosis, a surprisingly common genetic disorder in which iron builds up in various tissues. When the accumulation is in the pituitary gland, the testosterone level can be affected; accumulation in the joints leads to arthritis; accumulation in the skin darkens the complexion. Iron can also poison the heart and the liver, gravely compromising their function.

This was what happened to Tom. His heart was no longer able to pump blood effectively; his liver was no longer able to detoxify the blood properly or make the factors necessary for blood clotting. The surgeon who opened Tom's chest during the resuscitation effort said simply, "He was bleeding from everywhere."

One of every 300 Americans is estimated to have hemochromatosis, although many do not have any apparent symptoms.

Hemochromatosis was first described by Dr. Armand Trousseau, a Parisian physician, in 1865. The gene responsible for hereditary hemochromatosis was identified in 1996, but scientists are still not sure how mutations in the gene, designated HFE, cause the symptoms.

While scientists struggle to understand the molecular subtleties of hemochromatosis, the clinical treatment of the disorder remains remarkably primitive: serial phlebotomy. That is, weekly bloodletting. It turns out that removing about a pint of blood a week can prevent excess iron from accumulating, and if started early enough, can often reverse disease symptoms.

If Tom's disease had been diagnosed and phlebotomy begun two decades ago, he might have required testosterone therapy, but he could have avoided the progression of the disease to his liver and his heart.

In other words, if someone had thought to ask why a young, healthy man should suddenly have low testosterone levels and arthritis, Tom might have been saved.

Unfortunately, Tom's story will probably become more and more common. As doctors are compelled to see more patients in less time and are encouraged to order minimal testing, there is a pressure to treat patients rather than understand them. Low potassium level? Give potassium supplements. Belly hurt? Here's an antacid. Depressed? Try Prozac.

Thanks

Copyright 2003 New York Times Company