Is Lincoln Earliest Recorded Case of Rare Disease?
Monday, November 26, 2007
Abraham Lincoln was the rarest of men, and John G. Sotos believes that extended all the way to his chromosome 10.
A physician, connoisseur of rare ailments and amateur historian, Sotos believes Lincoln had a genetic syndrome called MEN 2B. He thinks the diagnosis not only accounts for Lincoln's great height, which has been the subject of most medical speculation over the years, but also for many of the president's other reported ailments and behaviors.
He also suspects Lincoln was dying of cancer at the time he was assassinated, and was unlikely to have survived a year. He thinks cancer -- an inevitable element of MEN 2B -- killed at least one of Lincoln's four sons, three of whom died before reaching age 20.
Sotos's theory assigns one of medicine's rarest conditions to one of the nation's best-known figures. It is likely to be controversial. But unlike many historical diagnoses, it can be easily proved or rejected with a DNA test for the single mutation in the gene called RET on chromosome 10 that causes MEN 2B.
Samples of the martyred president's DNA presumably exist in bloodstained fabrics scattered around the country and in eight skull fragments from Lincoln's autopsy in the possession of the federal government. Whether anyone will be willing to sacrifice part of a relic to answer this question is another issue.
Sotos, 50, is publishing his idea in a Web-based book, "The Physical Lincoln," which is expected to be available next month. He will present his findings at Johns Hopkins Hospital in Baltimore on Wednesday.
"No physician ever removes doubt from his or her mind. I am prepared to be wrong, but I don't expect to be wrong," he said last week.
Sotos is a cardiologist who heads a medical device company in Palo Alto, Calif. Several years ago, he published research asserting that William Howard Taft had obstructive sleep apnea, which went away when he lost a large amount of weight after leaving the White House.
Sotos is supporting his new hypothesis with a 350-page companion Web volume that assembles virtually every known description of Lincoln's health and physical features, as well as those of his relatives.
MEN 2B is short for "multiple endocrine neoplasia type 2B." It is a subtype of a genetic disease whose sufferers invariably develop cancer in a hormone-producing organ. Some are born with tumors. Nearly every victim gets cancer of the thyroid gland, and about half also get cancer of the adrenal gland. In about half the cases, patients inherit the disease from a parent. (Sotos thinks there is some chance that Lincoln's mother, who died at age 34, may have had it.) In the remainder of cases, the mutation appears spontaneously in the sufferer, who can then pass it on to children.
MEN 2B is the "rarest of the rare hereditary cancer syndromes," said Jeffrey F. Moley, a surgeon and an expert in the disease at Washington University School of Medicine in St. Louis.
Moley's department has 82 patients with MEN 2B in its database. He suspects there are about 500 in all in the United States. If Abraham Lincoln had MEN 2B, he would be the earliest recorded case.