Meet the medical pioneers who had conditions named after them

Here Majella O’Sullivan takes a look at some of the most common conditions named after those who discovered them and the people whose names they bear.

This year marks the bicentenary of when a British doctor first described an illness we now recognise as Parkinson’s.

James Parkinson published his research back in 1817 in his ‘An Essay of the Shaking Palsy’ and his work was awarded by the honour of an eponym and the illness he described was given his name.

The names of celebrated doctors may be familiar to us through their links with well-known diseases, syndromes or conditions, though we may be less familiar with the symptoms themselves.

Being awarded an eponym is considered the standard in Western medicine and an honour bestowed on the doctors, scientists and researchers, who may have devoted a lifetime to the discovery, identification and treatment of ailments and conditions that affect the population.

Typically, the doctors honoured by the eponym were the first to publish an article about it in a recognised medical journal.

Sometimes, though not as common, medical conditions are named after a patient who suffered from it, like Lou Gehrig’s disease is the US name for what we know as motor neurone disease. It was called after the American baseball player and member of the New York Yankees who died of the disease at the age of 37.

Alzheimer’s, Hodgkin’s lymphoma, Down syndrome, and Chrohn’s disease are examples of eponyms that are well known — but just how much do we know about the people behind them who have been immortalised in their names?

There are hundreds of eponyms for various conditions, diseases, illnesses and syndromes and women are severely under-represented.

Study identified brain anomalies for diagnosis

Alzheimer’s disease: Dr Aloysius Alzheimer

The condition:

Alzheimer’s is a progressive disease, where the symptoms of dementia gradually worsen over a number or years, causing a decline in mental functions that affects memory, thinking, language and behaviour.

It is the most common form of dementia and is thought to account for up to 80% of cases.

Around 40,000 people in Ireland are living with Alzheimer’s disease but this figure is expected to grow as the population ages.

It is most common in people over the age of 65, although it can affect younger people.

Dr Aloysius Alzheimer pioneered studied that showed how symptoms of dementia can cause decline in mental functions.
Dr Aloysius Alzheimer pioneered studied that showed how symptoms of dementia can cause decline in mental functions.

The doctor:

The German doctor who lends his name to the condition was born in Bavaria in 1864 and died of heart failure in Breslau, Prussia — modern day Wroclaw in Poland — in 1915, at the tender age of 51.

Aloysius or Alois Alzheimer studied medicine at university in Berlin and Wurzburg before taking up work in the city mental asylum in Frankfurt am Main before moving to Munich.

However, it was while in Frankfurt he met Augusta Deter, a 51-year-old patient, whose medical records and brain formed the basis of his study that would ultimately identify amyloid plaques and neurofibrillary tangles, the brain anomalies that would later become the identifiers for diagnosing Alzheimer’s disease.

The disease didn’t come to be known by the eponym until 1910 and one year later, Alzheimer’s findings were being used to diagnose patients, only four years before his death.

Asperger research went unrecognised

Asperger’s syndrome: Dr Hans Asperger

The condition:

Asperger’s syndrome or disorder is one of the autism spectrum disorders (ASD) but is considered to be at the high-functioning end of the spectrum and less severe than other instances.

People with Asperger’s have normal intelligence but may have difficulty with social interaction of non-verbal communication. Signs usually begin within the first two years.

Irish Autism Action estimates that several thousand people in Ireland have the syndrome, with about nine times as many men as women affected.

Dr Hans Asperger: The Viennese paediatrician first described what we now know as Asperger’s syndrome in 1944.
Dr Hans Asperger: The Viennese paediatrician first described what we now know as Asperger’s syndrome in 1944.

The doctor:

The Viennese pediatrician first described what we now know as Asperger’s syndrome in 1944 after observing a group of children who suffered from what he described as “autistic psychopathy”.

However, because his research was all written in German, his contributions in literature went unrecognised for decades.

Even the eponym “Asperger’s syndrome” only came into widespread usage in 1981.

He never lived to see this, as in died in October 1980, age 74.

Asperger’s syndrome was only recognised in the Diagnostic and Statistical Manual of Mental Disorders in 1994 but was removed again in 2013 and included in autism spectrum disorders.

Hodgkin was a pioneer in medicine

Hodgkin’s lymphoma: Dr Thomas Hodgkin

The condition:

Hodgkin’s lymphoma (HL) is a cancer of the lymphatic system that generally develops in the lymph glands or nodes, causing them to get bigger and swell. Most commonly, the cancer develops in the neck, armpit or chest though it can develop in any part of body.

On average, over 100 people are diagnosed with the disease in Ireland each year.

Non-Hodgkin lymphoma (NHL) is also a cancer of the lymphatic system and more common than HL. However, NHL is not a single disease but rather a group of several closely related cancers.

Non-Hodgkin can be either low grade or high grade in nature.

Low grade means the cells grow very slowly and may need little or no treatment for months or years, while high-grade NHLs grow more quickly and require immediate attention.

NHL also affects both men and women and over 500 people in Ireland are diagnosed with the condition each year.

Dr Thomas Hodgkin was a pioneer in preventative medicine.
Dr Thomas Hodgkin was a pioneer in preventative medicine.

The doctor:

British pathologist Thomas Hodgkin was born in 1798 and considered a pioneer in preventative medicine though he is best known for his account of what we now know as Hodgkin’s lymphoma, which was first published in 1832.

Born into a Quaker family in Middlesex, Dr Hodgkin died in Palestine 67 years later after contracting dysentery. He was buried in Jaffa.

A geologist, surgeon, and political activist

Parkinson’s disease: Dr James Parkinson

The condition:

Parkinson’s disease is a progressive neurological disorder caused by a shortage of dopamine, a chemical that helps instructions from the brain cross from one nerve cell to another.

More than 9,000 are living with the condition in Ireland and there is no known cure.

However, Parkinson’s is variable in its progression and progresses slower in some people.

The symptoms include tremors and shakings, muscle stiffness, limited movement, and difficulties with balance, but can be controlled effectively for years with medication.

Dr James Parkinson: A strong advocate for the underprivileged, he died in London in 1824, at the age of 69, of a stroke.
Dr James Parkinson: A strong advocate for the underprivileged, he died in London in 1824, at the age of 69, of a stroke.

The doctor:

Although Dr James Parkinson is most famous for his 1817 work, ‘An Essay on the Shaking Palsy’, he was also an English surgeon, chemist, geologist, palaeontologist. and political activist.

Born in London in April 1755, Dr Parkinson was the son of a doctor and chemist, who practised in Hoxton Square, London, and later succeeded his father in the practice.

Apart from his scientific pursuits, he was also a strong advocate for the underprivileged and an outspoken critic of the government, writing under his own name and the pseudonym “Old Hubert”.

He died in London in 1824, at the age of 69, of a stroke.

Syndrome outlined before genetic findings

Down syndrome Dr John Langdon Down

The condition:

Also known as trisomy 21, Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is associated with delays to physical growth, characteristic facial features and mild to moderate intellectual disability.

The extra chromosome occurs by chance but the possibility of it occurring increases from less than 0.1% in 20-year-old mothers to 3% in those over the age of 45.

It occurs in about one per 1,000 babies born.

It can be identified in pregnancy through prenatal screening.

Dr John Langdon Down: Facility he founded now houses the headquarters of the Down Syndrome Association.
Dr John Langdon Down: Facility he founded now houses the headquarters of the Down Syndrome Association.

The doctor:

British doctor John Langdon Down first described the syndrome in 1866 but it wasn’t until 1957 that the genetic cause of the condition, an extra copy of chromosome 21, was discovered.

Down was born in Cornwall in 1828 but his father was originally from Derry and his great-great grandfather was the Catholic bishop of Derry.

In 1866 in a paper entitled ‘Observations of an Ethic Classification of Idiots’ he put forward his theory that different conditions could be classified by ethnic characteristics.

These included what he classified as a Mongolian type, which led to people with Down syndrome also being known by the offensive term “Mongoloids”.

Two years later he set up a private home for the “mentally subnormal” at Normansfield in England. Today this is known as the Langdon Down Centre and also houses the headquarters of the Down Syndrome Association.

Crohn collaborated on disease research

Crohn’s disease: Dr Burrill Bernard Crohn

The condition:

Crohn’s disease is an inflammatory bowel disease that affects parts of the digestive system that gets swollen and has deep scars called ulcers. It is usually found in the small or large intestine but it can develop anywhere along the digestive tract, including the mouth and the anus.

Symptoms include stomach cramps and diarrhea often causing weight loss.

It is not known what causes the disease but it is more prevalent among certain ethic groups and can run in families.

According to the Irish Society for Colitis and Crohn’s Disease, around 40,000 are affected with the illness here.

Dr Burrill Bernard Crohn collaborated with Dr Leon Ginzburg and Dr Gordon Oppenheimer on the research that led to categorisation of Crohn’s disease.
Dr Burrill Bernard Crohn collaborated with Dr Leon Ginzburg and Dr Gordon Oppenheimer on the research that led to categorisation of Crohn’s disease.

The doctor:

Although Dr Burrill Bernard Crohn is honoured by the eponym, the good doctor collaborated on the research with two others, Dr Leon Ginzburg and Dr Gordon Oppenheimer.

It is thought the condition was named after him because their names appeared in alphabetical order on the paper they published in 1932 describing the features of the then unknown condition.

Dr Crohn, a Jewish American, himself enjoyed excellent health, almost living to the age of 100.

Born in New York in June 1884, Dr Crohn died in Connecticut in July 1983.

Educated at the City College of New York, Dr Crohn received a medical degree from Columbia University in 1907, the same year he became an intern at Mount Sinai Hospital, where he was later promoted to head of gastroenterology.

Apart from being a renowned gastroenterologist, who consulted on high-profile patients, including president Dwight Eisenhower, Dr Crohn was also an accomplished painter.

Disorder affects 1 in 3,000 to 6,000 births

Edwards’ Syndrome: Dr John Hilton Edwards

The condition:

A serious genetic disorder, also known as trisomy 18, caused by an additional copy of chromosome 18 in some or all cells in the body.

In many cases where it occurs, it causes miscarriage or stillbirth.

Of babies who survive to birth, half die within two weeks and only one in every five will survive to three months, though around one in every 12 survives beyond the first year.

It affects around one in 3,000 to 6,000 live births and the risk increases with the mother’s age.

John Hilton Edwards found extra chromosome caused trisomy 18.
John Hilton Edwards found extra chromosome caused trisomy 18.

The doctor:

Of all the featured doctors whose names have become eponyms, Dr John Hilton Edwards in the most contemporary, having only passed away in 2007.

Born in London in 1928, Edwards was the first to report a description of multiple congenital malformations associated with the presence of an extra chromosome.

He was elected to fellowship of the Royal Society in 1979 and was a Fellow of Keble College, Oxford, and Professor of Genetics at Oxford from 1979 to 1995.

He died in Oxford in 2007.

Rare condition disrupts fetal development

Patau’s Syndrome: Dr Klaus Patau

The condition:

Also known as trisomy 13, Patau’s syndrome is a rare and serious genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells.

Patau’s severely disrupts development in the womb and in many cases results in miscarriage, stillbirth, or death shortly after birth. About 90% of babies born with the syndrome die in the first year.

It affects about one in every 5,000 births though the risk increases with the mother’s age.

It can be detected through prenatal screening.

Dr Klaus Patau detected disorder that can cause miscarriage, stillbirth, or death shortly after birth.
Dr Klaus Patau detected disorder that can cause miscarriage, stillbirth, or death shortly after birth.

The doctor:

Geneticist Klaus Patau was born in Germany in 1908 and graduated from the University of Berlin with a PhD in 1936, followed by a two-year stint in London before the war.

He returned to Germany and worked at the Kaiser Wilhelm Institute of Biology until he emigrated to the USA in 1948.

He first reported the extra chromosome in trisomy 13 in 1960.

He died in 1975.


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