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Cocktail of care and curiosity

In 2011, the Coroner for west Galway returned a verdict on the death of a 76-year-old man that made global health headlines.

For the first time in his quarter of century investigating deaths, Coroner Dr Ciaran McLoughlin decided ‘spontaneous human combustion’ was a cause of death.

The elderly victim was found by emergency services near a fireplace in his home — burnt to death. However, investigators concluded his house fire was not the cause of the blaze.

“No trace of an accelerant was found at the scene and there was no sign that anyone else had entered or left” the victim’s home, the Irish Independent reported from the inquest.

“This fire was thoroughly investigated and I’m left with the conclusion that this fits into the category of spontaneous human combustion, for which there is no adequate explanation,” concluded Dr McLoughlin.

This mysterious conclusion to a mysterious case inspired much debate, reflecting the lack of medical consensus on the phenomena of so-called ‘spontaneous human combustion’.

However, the inquest does indicate how medical mysteries sometimes remain a contemporary rather than a mere historical occurrence. Undiagnosed and obscure diseases continue to baffle and challenge medicine. This may be one of the reasons why historical medical mysteries remain of huge interest to both doctors and the general public — they often give hope that one day in the future, current clinical conundrums will be solved.

So, looking back into the past, what is the general lesson modern medicine can learn from historical riddles?

Dr Clifton K Meador is Professor of Medicine Emeritus at Vanderbilt University in the US and has published extensively in medical literature. This includes his 2013 book Fascinomas — Fascinating Medical Mysteries.

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“The take-away lesson is to listen, listen, listen,” Prof Meador tells the Medical Independent (MI).

“Remember, there is not a definable medical disease behind every symptom but there is a definable cause behind every symptom, if the doctor and the patient look and listen carefully,” he says.

“Sometimes this requires a daily diary of the symptoms.”

Prof Meador also feels the application of labels can often make the ‘mystery’ all the more difficult to solve.

“Be careful with labels of disease. A label can slow down or prevent a search for the real cause of the symptoms.

“There are several favourite false labels going around. These labels often obscure and hide the underlying causes for the symptoms.”

Also in the US, Dr Philip Mackowiak is Professor Emeritus and Vice-Chairman of the Department of Medicine of the University of Maryland School of Medicine.

He is an expert in medical mysteries surrounding famous historical figures (patients such as Beethoven) and his recent books include Post Mortem: Solving History’s Great medical Mysteries and its sequel, Diagnosing Giants.

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“The common thread uniting all of these mysteries has to do with the challenge of compiling and editing the medical information for each of the patients — a task even more difficult than coming up with diagnoses capable of explaining the illnesses themselves,” says Dr Mackowiak, who is also Chief of the Medical Care Clinical Centre of the VA Maryland Health Care System.

“In most instances, the information is scattered among disparate sources of varying reliability, is difficult to interpret because of problems related to translation and changes in the meaning of key terms over time, and also because of the lack of some critical piece of data needed for definitive diagnosis,” he says.

How the great meet their end

Mystery lingers over the deaths of many of history’s most famous faces.

It is from this cast of characters that Ms Mary Harrsch, who runs the detailed History’s Medical Mysteries blog (historymedmysteries.blogspot.ie/), finds her personal favourite.

“As someone who focuses most of my study on the ancient world, I am most fascinated by cases examining famous individuals from that era,” she says.

“Often, these are the most challenging, however, because of a lack of extant remains and fragmentary source material. “

So it is one of the greatest figures from the ancient period, and his mysterious death, that interests her the most.

“Alexander the Great is particularly interesting to me because of his staggering intellect and ultimate desire to create an empire where subjects of many different cultures and faiths could live in harmony,” she tells MI.

“Unfortunately, his untimely death ended this visionary legacy. I’ve recently updated the article [on her blog] I included about his death because as recently as last January, someone has proposed yet another possibility.

“There were certainly plenty of political machinations at work in his court so yet another suggestion of poison is understandable. But I think such suggestions overlook the towering legend of the man that existed, even in his own lifetime.

“I don’t think someone would resort to poison if they were not assured of gaining his power. That’s why I find the pathological study indicating death by typhoid more credible.”

Retrospective picture

But time, research and constant medical advances mean that Dr Mackowiak can often provide a more total, retrospective picture.

“I spent several decades compiling the case summaries included in these two books, assisted in each by some of today’s most knowledgeable authorities on these 25 famous patients. Almost certainly, there are details I overlooked in the process.

“However, though in virtually all of them I would like to have had more information, I believe the clinical summaries presented in Post Mortem and Diagnosing Giants are as complete and as accurate as the historical record allows. Moreover, I believe they each contain enough clinical information to diagnose the mysterious disorders of these 25 famous patients with reasonable certainty.”

Remember, there is not a definable medica disease behind every symptom but there is a definable cause behind every symptom

Dr Robert A Norman, who is the author of Discover Magazine’s Vital Signs: True Tales of Medical Mysteries, Obscure Diseases and Life-Saving Diagnoses, says that his own investigations have led him to understand the importance of medical communication.

“The differential diagnosis is the pursuit of an often slippery truth and each patient has many variables that must be considered,” he says.

“I think the funneling-down from myriad facts to try and capture a diagnosis provides great feedback, over and over, for further recognition of similar symptoms and diagnosis the next time.

“The major purpose of medical communication is to share these pursuits in constructive ways to benefit our patients.”

When asked to locate a common theme from the mysteries that he has written about in his book, Dr Norman sees a cocktail of care and curiosity to the fore.

“The curiosity to pursue the unknown and the desire to help the patient,” says Dr Norman.

“A fruitful relationship between doctor and patient demands clear communication, trust, dedication and compassion. Those same qualities are important in any meaningful life relationship, but rarely is their value so starkly laid out as in these stories.”

Mystery on-line

For more information on the authors and the books mentioned in this feature, log on to:

www.cliftonkmeador.com

www.amazon.com/Philip-A.-Mackowiak/e/B001HCX0XO

www.historymedmysteries.blogspot.ie/

www.sandrahempel.co.uk/

www.amazon.com/Robert-A.-Norman/e/B0033Z4HTY

Insatiable interest

Doctors (and much of the general public) seem to have an insatiable interest in medical mysteries, both historic and contemporary.

Ms Mary Harrsch maintains the very interesting History’s Medical Mysteries blog (historymedmysteries.blogspot.ie/).

She believes peering into the past can often calm our collective nerves about the present.

“Nowadays, our media is always promoting stories of catastrophic pandemics. So I feel it is important to have an understanding of historical deaths so we can temper fear, often exacerbated by the media, with knowledge of likely causes and, hopefully, preventions,” says Ms Harrsch.

“From a historian’s perspective, I also like to know if a famous leader actually succumbed to natural causes or the machinations of political enemies, so we can evaluate the credibility of our rather scant ancient sources.”

The dpctprs here are heroic in their intent…they are human beings – smart, dedicated, empathetic

The enthusiasm for his research into historic medical mysteries is clear when Dr Mackowiak is asked to name his favourite one.

“I love them all, because of their unique personalities and the critical roles they played in our history,” he says.

However he does have a particular interest in one case from the ancient Egyptian world and a famous subject from classical music.

“If I could meet just one of these famous patients, I’d choose Akhenaten, primarily because I would then know for certain whether the images he commissioned of himself were symbolic or real,” he says.

“Moreover, he lived at the very dawn of medical history and I’d most like to hear from him what it was like then and how it all began.”

Akhenaten was a Egyptian pharaoh whose strange depiction in Egyptian sculpture (which show him apparently with both male and female characteristics) of the time have led to plenty of speculation over medical conditions he may have suffered from.

“If I could subject just one of these patients to modern diagnostic testing, I’d choose Beethoven.

“Although clinically his illness could only have been progressive syphilis, it’s still hard to accept it as his diagnosis without laboratory confirmation.”

But it is not mere idle interest that is satisfied with these medical delves into the past. Dr Mackowiak is convinced that this historical exercise in his books can be of benefit to contemporary medicine.

“Doctors and medicine in general might profit from these kinds of exercises in a number of ways,” says Dr Mackowiak.

“They represent a unique approach to history in which the medical disorders of important historical figures are dealt with as something more than footnotes to their lives — illnesses which, in many instances, profoundly affected not only the lives of these famous patients, but also their legacies.

“For those who love history, they’ll find an approach to the subject different from any they’ve encountered previously; for those who are fascinated by medical science, a new perspective on the evolution of some of its most important concepts; for those who like biographies of famous people, over two dozen unique biographical sketches of some of history’s most important figures.”

Dr Norman looks towards Eastern Europe and the Southern Hemisphere for examples of the stories that he has found most intriguing in his investigations.

“Many of my favourite medical mystery stories involve historical examples of those who have looked outside the box and made observations that have changed our world,” says Dr Norman.

“The Hungarian physician Ignaz Semmelweis is now known as an early pioneer of antiseptic procedures but suffered great rejection during his career.

“A more recent example is Barry Marshall, a Professor of Clinical Microbiology at the University of Western Australia, who along with Robin Warren showed that the bacterium Helicobacter pylori is the cause of most peptic ulcers, reversing decades of medical doctrine.”

Tellingly, Dr Norman locates a thread of bravery among the doctors featured in his stories he has written — a courage linked to facing truth.

“The authors (doctors) in the featured stories bravely expose their inner thought processes,” he says.

“They write candidly about missed clues, communication problems, administrative obstacles, overlapping interpretations of symptoms and the difficulties of processing information that may be incomplete or downright misleading.

“The doctors here are heroic in their intent, but they are not heroes in the classical sense. They are human beings — smart, dedicated, empathetic, but human all the same — doing their best to apply the lessons of 2,000 years of medical knowledge.”

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A mystery solved by a single pump and a brilliant mind

In the early 1830s, a deadly disease swept across Asia and into Europe.

It brought death on a terrifying scale, killing millions. The medical profession was seemingly powerless to prevent this cholera outbreak from creating an ever-greater body count.

By the time it hit London, the centre of the industrial world, the impact it had on Victorian Britain was devastating.

The medical orthodoxy held fast to the theory of miasmatism (which proposed that diseases such as cholera were caused and transmitted by a noxious form of ‘bad air’), and there seemed little chance of that consensus being broken. The disease spread. The nature of the transmission a mystery.

However, “one man — alone and unrecognised — uncovered the truth behind the pandemic and laid the foundations for the modern, scientific investigation of today’s fatal plagues,” according to the book The Medical Detective: John Snow, Cholera and the Mystery of the Broad Street Pump.

“The lesson from the John Snow story is the importance of being able to stand back, re-examine the science and question existing beliefs,” author Ms Sandra Hempel tells MI.

“Miasmatism was only a theory, not proven fact. Yet the medical profession went to some extraordinary lengths in refusing to consider that it might be wrong, twisting the new evidence as it emerged in order to try to make it fit.”

John Snow was reclusive, but had the “genius” to look beyond the conventional wisdom of the mid 19th Century medical mindset. His work linked the outbreak to a single London water pump and proved that cholera was spread through drinking water, thus solving a medical mystery and changing history.

Many experts now consider John Snow to be one of the great pioneers of the field of epidemiology.

Ms Hempel’s study retelling this incredible story won the British Medical Association’s book prize for the public understanding of science.

“I love the Broad Street story itself. While the suffering and deaths were dreadful, the picture of the social conditions that emerges is so vivid,” says Ms Hempel.

“I also like John Snow’s door-to-door enquiries, his ‘gate-crashing’ the vestry meeting and his drawing-up of that iconic disease map, showing the houses where the deaths occurred with the pump right at the centre.

“And of course there is the wonderful tale that helped to prove his theory — how Snow was puzzled that none of the workers at the Lion Brewery fell sick, before discovering that they were allowed free beer and never touched water.

“There are several aspects that I think readers will find fascinating, including the huge variety of cholera treatments (all useless) that were prescribed and the British government’s scientific inquiry into cholera.

“However, if I had to narrow it down, I think readers might be interested in reading about how epidemiology first developed as a science.

“Today, as new infectious diseases continue to emerge and, with international travel, have the potential to go global, epidemiology is absolutely key to understanding what is going on and trying to contain the spread. Ebola is a terrible case in point.”

The six categories of symptoms with an unknown origin

Most of today’s ‘mystery’ illnesses will one day become fodder for retrospective history that will explain all.

A mystery illness is often a long-standing medical condition that eludes diagnosis by a doctor, until a major breakthrough is made.

In 2008, the US Undiagnosed Diseases Programme (UDP) was established “to hunt for the answer to mysterious diseases that have defied all other medical experts,” according to New Scientist magazine.

Despite not having the term ‘mystery’ in the title, the programme focuses on undiagnosed cases whose cause remains unclear — for now.

These are cases defined as a “long-standing medical condition that eludes diagnosis by a referring physician [that] can be considered undiagnosed and may be of interest to this clinical research programme,” according to the UDP website.

“Of the total number of cases that are referred to this programme, a very limited number will be invited to proceed in the study following careful application review by the programme’s medical team.

“In general, it takes eight-to-12 weeks for the UDP to evaluate an application, and the waiting list for admission is two-to-six months.”

Dr Clifton K Meador is also the author of Symptoms of Unknown Origin (Vanderbilt University Press, 2005)and Puzzling Symptoms (Cable Publishing, 2008). He tells MI that arising from his own studies, patients who show with ‘mysterious’ symptoms or ‘symptoms of unknown origin’ fall into a number of categories.

“Patients present with symptoms in the body. From my study of a series of patients with symptoms of unknown origin, there are at least six categories of such patients,” he says.

“One, they do have an obscure or rare, definable medical disease.

“Two, they are in contact (breathing, ingesting, or on the skin) with some toxic substance that is out of their conscious awareness.

“Three, they are in some toxic relationship, producing stress and illness (boss, spouse, child, parents, in-laws, etc). Four, they are self-inflicting the illness or injury (Munchhausen Syndrome, Munchausen by proxy, malingering for money or drugs and just for attention).

“Five, they are caught in a set of symptoms as a way of life (hypochondriasis) and six, they are in complete denial and have what I call ‘the silent disease’ — chronic alcoholism or drug addiction.”

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