Sunday January 29, 2012
Diseases and their names
By TAN SHIOW CHIN
Many people have lent their names to well-known medical conditions.
THERE is a certain thrill to discovering something new that no one else has ever seen or heard or quite put together before.
This is especially so for those who are explorers by heart, whether physically – like Portuguese sea captain Ferdinand Magellan, astronaut Neil Armstrong or undersea explorer Robert Ballard – or through research, like many scientists, famous or not, around the world.
Aside from the excitement and pleasure of coming across something previously unknown, explorers also have the chance to name that thing, whether it be an island, animal or disease.
Hence, the Philippines was named after the then-Spanish crown prince Philip, a subspecies of marsh rabbit (Sylvilagus palustris hefneri) is named after Playboy founder Hugh Hefner for his donations to support the bunny’s conservation, and Lyme disease is named after the American town in which researchers first identified it.
While most diseases tend to be given descriptive names – for example, polycystic renal disease, which is an illness affecting the kidneys (renal, from the Latin word for kidney, renes) caused by the growth of multiple (poly, a Greek combining form meaning “much, many”) cysts – some have been named after the doctor, or doctors, who first described them.
Although there has been some controversy over whether this naming convention should be maintained – oftentimes there are doubts over whether the named doctor is indeed the original discoverer of the disease, and unlike descriptive names, eponyms really say nothing at all about the disease – there are still quite a few diseases that are known by someone’s name.
This chronic degenerative brain disease was first presented at a lecture in 1905 by German psychiatrist and neuropathologist Dr Alois Alzheimer.
While working at the Frankfurt Asylum, the doctor became very interested in the symptoms shown by one of his patients, 51-year-old Auguste Deter.
Deter exhibited short-term memory loss, aphasia, hallucinations, disorientation and the inability to take care of herself – common signs of the disease.
After her death at the age of 55, Dr Alzheimer conducted a microscopic examination of her brain, noting down organic changes like amyloid plaques and neurofibrillary tangles, which are the hallmark signs of the disease that bears his name.
His findings were included in a textbook Psychiatrie by his colleague Dr Emil Kraepelin, who called the condition Alzheimer’s disease in the book.
In 1981, English psychiatrist Dr Lorna Wing first introduced the name Asperger’s syndrome in association with the particular set of behavioural patterns shown by patients with this form of high-functioning autism.
Dr Hans Asperger was an Austrian paediatrician, who was particularly interested in what he called “autistic psychopathy”.
Although he published some 359 articles, mainly on this topic, during his lifetime, it was mostly in German.
As his works were mostly untranslated, his research on the syndrome that bears his name went little noticed until Dr Wing, one of the co-founders of the National Autistic Society in the United Kingdom, included it in her paper published in Psychological Medicine.
No, this form of the inherited blood disorder haemophilia is not named after the festive holiday. And unlike the first two conditions, it is not named after the doctor who discovered it either.
Although it is more commonly referred to as haemophilia B, Christmas disease is so called after the patient in whom this condition was first observed in detail – a boy named Stephen Christmas.
Coincidentally, the British Medical Journal edition that contained the paper describing this disease was published on Dec 27, 1952 – just two days after Christmas day.
Sometimes, having a surname that comes early in the alphabet pays off.
In 1932, three New York physicians, Drs Burrill Bernard Crohn, Leon Ginzburg and Gordon Oppenheimer, jointly published a paper describing a newly identified form of inflammatory bowel disease in the Mount Sinai Journal of Medicine.
Originally called terminal ileitis by the three doctors, the disease came to be popularly called Crohn’s disease after the first author as listed alphabetically.
Cushing’s syndrome and Cushing’s disease are actually two slightly different conditions that are both named after American neurosurgeon Dr Harvey Cushing.
In 1912, Dr Cushing described a condition caused by the body’s constant exposure to too much of the hormone cortisol due to excessive production by the pituitary gland.
This illness, described in his book The Pituitary Body and its Disorders, is now known as Cushing’s disease.
Cushing’s syndrome refers to the same condition of constant exposure to excessive cortisol, but not necessarily caused by the pituitary gland.
The syndrome encompasses various causes including iatrogenic ones – usually due to side effects of medications for other conditions, adrenal tumours and adrenocorticotropic hormone-producing tumours.
This well-known chromosomal disorder is named after Dr John Langdon Down, the English physician who first described the features of the syndrome in detail in his 1866 paper published in the London Hospital Reports.
His observations mainly centred on the distinctive facial characteristics of Down syndrome patients, which he described as being similar to that of the Mongoloid race.
(This description was based on German physician and anthropologist Johann Friedrich Blumenbach’s 1779 racial classification system, which considered all East Asians and some Central Asians, as part of the Mongoloid, or yellow, race.)
Initially, the condition was known as mongolism, but as the term evolved to gather negative connotations in the 1960s, the medical community soon began referring to it as Down’s syndrome, with the possessive eventually being dropped as well.
The condition is also called Trisomy 21, after its chromosomal cause was discovered by French geneticist Dr Jerome Lejeune in 1958.
In an example of a disease not being named after its original “discoverer”, this cancer of the white blood cells called lymphocytes is actually named after British pathologist Dr Thomas Hodgkin.
In his 1832 paper published in Medico-Chirurgical Transactions, Dr Hodgkin had described the condition that now bears his name. He also noted that the earliest reference to this condition had been made by Italian doctor Marcello Malphigi in 1666.
However, Dr Hodgkin’s paper went largely unnoticed, and in 1856, his successor at Guy’s Hospital, London, Dr Samuel Wilks, published a paper describing the same condition, unaware of Dr Hodgkin’s previous work on the disease.
Their mutual colleague Dr Richard Bright informed Dr Wilks of Dr Hodgkins’ prior paper, and in 1865, Dr Wilks proposed the name Hodgkin’s disease in another paper detailing further information about the disease.
The condition was also called Hodgkin’s lymphoma, and in 2001, the World Health Organization’s International Classification of Diseases used the latter in preference to the former.
As there are two main types of lymphomas, by default, the other type of lymphoma is called non-Hodgkin’s lymphoma.
This inherited progressive neurodegenerative disorder is another example of a disease that is rather arbitrarily named after only one of many medical practitioners who have described it in one form or the other over the past few centuries.
The most likely reason that American physician Dr George Huntington has his name attached to this disease is because he was the first doctor to thoroughly describe the disease in a presentation, and subsequent published paper, in 1872.
This paper even impressed renowned American physician Sir William Osler, one of the four founding professors of the Johns Hopkins University School of Medicine, in its detail.
It was originally called Huntington’s chorea (from the Greek word choreia, which means dance), after the characteristic jerky, random and uncontrollable physical movements of the condition.
However, the name was eventually changed to Huntington’s disease as chorea is not always seen in patients with the illness.
Lou Gehrig’s disease
This is another disease named after a patient, in this case, a well-known patient, rather than the first one found to have the disease.
Lou Gehrig was a famous and well-loved American baseball player, who played for the New York Yankees from 1923 to 1939.
He had to quit his successful career, which included several major league baseball records, after developing this fatal progressive neurodegenerative disease.
Due to his fame, this condition, also called amyotrophic lateral sclerosis, is primarily known as Lou Gehrig’s disease in North America.
In the United Kingdom, this illness is usually referred to as motor neurone disease.
One of the most common nervous disorders in the elderly, Parkinson’s disease is named after English doctor James Parkinson.
Even though there has been mention of this disease ever since the 10th century BCE, it was not until Dr Parkinson’s 1817 paper entitled An Essay on the Shaking Palsy, that the condition was clearly described.
At that time, the disease was known as paralysis agitans (Latin for shaking palsy).
It was French neurologist Dr Jean-Martin Charcot, who not only produced groundbreaking research on the disease between 1868 and 1881, but also promoted the renaming of the disease to honour Dr Parkinson.
This infectious foodborne illness can actually be considered as being named after a person by secondhand.
Salmonellosis is named after the bacteria that causes it, Salmonella sp. The Salmonella bacteria however, is named after American veterinary pathologist Dr Daniel Elmer Salmon.
Although the bacteria was actually discovered by Dr Salmon’s research assistant Dr Theobald Smith, the two had been working together to isolate the bacteria from pigs with hog cholera, and Dr Smith decided to name the new bacteria after his boss.
The genus name Salmonella was officially adopted in 1900 by Dr J. Lignières.
This condition, which causes repeated quick movements or sounds called tics that are uncontrollable, was first described as a clinical entity by French neurologist Dr Georges Albert Édouard Brutus Gilles de la Tourette.
He had been assigned to study patients with repetitive behaviours at the Salpêtrière Hospital by his mentor Dr Charcot (the same one mentioned under Parkinson’s disease), with the idea of establishing a condition separate from hysteria and chorea.
Dr Tourette subsequently published a paper entitled Study of a Nervous Affliction in 1885 reporting on nine patients with the syndrome, and concluding that a new clinical category should be defined.
It was Dr Charcot who named the disease Tourette syndrome in honour of Dr Tourette.