What's in a name?

MEDICAL MATTERS: There is a long tradition of naming diseases after the doctor or researcher who discovered them. The use of eponymous titles is a somewhat hallowed tradition in medicine, serving as a shorthand way of referring to complex syndromes. Quite often, the name associated with the disease is not that of the first person involved in its description, yet for pragmatic reasons the original eponym continues to be used.

Eponyms sometimes lapse from regular use over time as a result of advances in medical knowledge; more recent discoveries tend to acquire names reflecting this knowledge, such as AIDS (acquired immunodeficiency syndrome) or names may reflect popular usage, such as bird flu (H5N1 Influenza).

Some eponyms have a great ring to them. Who would not want to boast of having an Argyll Robertson pupil, at least until they discovered it resulted from a syphilitic infection of the nervous system? (Dr Argyll Robertson, an Edinburgh physician first described the small irregular and unequal pupils that do not react to light in 1869).

Ireland is not to be found wanting as the source of medical eponyms. Many are described in Davis Coakley's excellent book, Irish Masters of Medicine. Abraham Colles, the outstanding surgeon of the 19th century gave his name to the Colles fracture when he was the first to describe the classic fracture of the wrist in 1814.

Robert Graves wrote the classic description of Graves disease in his 1835 paper: Newly observed affections of the thyroid gland in females. He described the most common cause of hyperthyroidism, in which the diffusely enlarged thyroid gland in the neck secretes excess thyroid hormone into the blood stream.

Stokes-Adams Syndrome was the first Irish cardiac eponym. Blackouts associated with a slow pulse were first described by Robert Adams in 1827 and the condition was further expanded on by William Stokes some twenty years later.

Sometimes there is a more specific reason why eponyms fall out of favour. A recent article in the Lancet questioned whether the name Wegener's should be detached from the inflammatory condition (Granulomatosis) first described by Frederick Wegener in the 1930s.

Frederick Wegener was a German pathologist who recognised the common findings in a series of cases of the relatively rare condition. He published a report into the disease in 1939, based on his autopsy findings and the eponym Wegener's Granulomatosis entered the medical lexicon.

It has now emerged that Wegener had been detained as a suspected war criminal by the Allies in 1945. But he was released without facing trial. However, there is now evidence to suggest that Wegener, who died in 1990, was involved in the selection of Jews in the Lodz ghetto for genocide and also that he probably carried out post mortems on the victims. But there is no evidence that he was involved in experimentation on humans.

The revelations have prompted the Lancet authors to ask for a balanced discussion within the scientific community as to whether the continued use of the eponym, Wegener's Granulomatosis, is appropriate.

So what of the disease itself? Granulomatosis produces inflammation of blood vessels (vasculitis) and an unusual type of inflammatory tissue called a granuloma, so called because its texture resembles small grains.

It is a rare condition, resulting in some five to 10 new cases per million of the population per year. In Ireland, this means that each year, some 30 to 60 new cases may be diagnosed. The inflammation can affect any part of the body. The upper respiratory tract, including the nose, sinuses, ears and windpipe is typically affected first. Blood vessels in the lungs and kidneys then become inflamed. Vasculitis may affect arteries in the heart and the disease may cause sores and even ulcers to appear on the skin.

The immunology department at St James's Hospital has a particular interest in Wegener's granulomatosis. Prof Con Feighery and his colleagues have written an excellent, patient-friendly booklet on the condition, which is available on the hospital website (Go to www.sjh.ie and select immunology department).

Many more patients are now diagnosed with the disease following the introduction of a blood test for C-ANCA antibodies.

"With the use of this highly specific test, we are diagnosing patients with atypical presentation at an earlier stage than was commonly the case some 10 years ago," Prof Feighrey says. As a result, patients are being treated earlier, and so have a better prognosis. But whether the disease retains its eponymous moniker remains to be seen and will probably revolve around consideration of how inhumane Wegener's actions in the Nazi era were.