Two papers published in the journal Diagnosis in July 2019 and May 2020 seek to shed light on the harm done by misdiagnosis of known diseases. These open-access papers are available online, as listed below (1) (2). The authors identify three major categories and five diseases in each of them that are estimated to account for about 50% of serious injury and/or death: vascular events, infections, cancers.
A Bicuspid Aortic Valve Perspective
Of the three categories, both the vascular and infection disease categories are of particular importance to those with BAV. Clinical significance of the bicuspid aortic valve , published in 2000, states that BAV may be responsible for more death and morbidity than all other congenital heart defects combined. Perhaps it is not surprising then, that the diseases listed include several vascular and infectious diseases known to cause injury or death in some who were born with BAV.
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| Diseased aorta in the chest |
- Aortic aneurysm and dissection
- Arterial thromboembolism
- Venous thromboembolism
- Stroke
- Myocardial infarction (heart attack)
In the infection category the 5 diseases are:
- Sepsis
- Meningitis and Encephalitis
- Spinal abscess
- Pneumonia
- Endocarditis
From the authors' conclusion: "We estimate that roughly one in 10 patients* with a dangerous 'Big Three' disease is misdiagnosed, and roughly half of those misdiagnosed die or are permanently disabled as a result." (1) They go on to note that there is no indication that the error and harm rates are declining. They also mention there has been improvement in those diseases that have received actual sustained emphasis over several decades.
BAV and These Diseases
Reading these papers I reflected on my late BAV husband's experience with 5 of the 10 diseases above at different points in his life, and the challenges we faced with diagnosis and treatment. He survived these serious threats to his life until intractable bacterial endocarditis ended it. His doctors marveled at how much he was able to overcome, which is the case with so many other "BAVers" I know.
ER, perhaps both. Once there, even at the very first indication of an issue, will the disease be found in time to prevent disability or death?
What Can We Do? Be Informed, Be Proactive!
What can we do when we need help? We can be aware of these too often-missed diseases - the possible presence of an aortic aneurysm, the pain of an aortic dissection crisis, the potentially deadly infections - sepsis, endocarditis, or even pneumonia.
With that awareness and realizing that these diseases may be missed, we can ask questions and whenever possible get additional opinions from the best expertise available.
We can pursue answers,
without embarrassment when discounted and misunderstood,
realizing the consequences to our future
if potentially deadly conditions are not found in time.
Perspective from Sir William Osler in 1907 - Diagnosing Aneurysm of the Aorta
These diseases have long plagued humanity, and the challenges in finding them are not new either. The following words were written long ago by the renowned physician, William Osler, regarding diagnosis and aneurysm of the aorta (3),
"The well-known dictum of Jenner may be taken as text: 'More mistakes are made by not looking than not knowing.' A majority of aneurism of the thoracic aorta present suggestive features to the eye, but the inspection must be made with care."
Writing of having missed aortic diagnoses, Osler mentions an example of someone named McKinley. He continues with the often quoted:
"There is no disease more conducive to clinical humility than aneurism of the aorta."
Continuing, his words at the close of the page are compelling, where he quotes Pirogoff:
"Mistakes occur with the most careful and most skilful. Sometimes the diagnosis is beyond our art; more often it is not made because of the carelessness that so easily besets us in our work. The confession of the great Pirogoff always seems to me most touching: 'There are in everyone's practice moments in which his vision is holden, so that even an experienced man cannot see what is nevertheless perfectly clear, at least I have noticed this in my own case. An over weaning self-confidence and pre-conceived opinion, rarely a weariness, are the causes of these astonishing mistakes.'"
It is over 100 years since Osler wrote about diagnosing diseases of the aorta and aneurysms, citing Jenner and Pirogoff (4). The tools of modern technology have not solved the diagnosis challenges. The authors of these recent papers, several from Johns Hopkins where Osler came as one of the founders in 1888, are bringing much needed focus to the harms done when certain diseases are not found or not found quickly enough. May the transparency and humility of Osler, Jenner, and Pirogoff, coupled with courage in the face of deadly diseases, be inspirations today to overcome limitations and find mechanisms to reduce misdiagnosis.
The Challenge in 2021
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| Doug Grieshop's Diagnosis, BAV with Aortic Dissection/Rupture, Came too Late, During an Autopsy |
May the new light these papers are shining
be a springboard to improve diagnosis,
significantly reducing injury and death.
~Arlys Velebir, Bicuspid Aortic Foundation
(1) Newman-Toker, David E., Schaffer, Adam C., Yu-Moe, C. Winnie, Nassery, Najlla, Saber Tehrani, Ali S., Clemens, Gwendolyn D., Wang, Zheyu, Zhu, Yuxin, Fanai, Mehdi and Siegal, Dana. "Serious misdiagnosis-related harms in malpractice claims: The “Big Three” – vascular events, infections, and cancers" Diagnosis, vol. 6, no. 3, 2019, pp. 227-240. https://doi.org/10.1515/dx-2019-0019
(2) Newman-Toker, David E., Schaffer, Adam C., Yu-Moe, C. Winnie, Nassery, Najlla, Saber Tehrani, Ali S., Clemens, Gwendolyn D., Wang, Zheyu, Zhu, Yuxin, Fanai, Mehdi and Siegal, Dana. "Serious misdiagnosis-related harms in malpractice claims: The “Big Three” – vascular events, infections, and cancers" Diagnosis, vol. 6, no. 3, 2019, pp. 227-240. https://doi.org/10.1515/dx-2019-0019
(4) The Life and Work of Nikolai Ivanovich Pirogov (1810-1881): An Outstanding Anatomist and Surgeon
*Bolding added to quotations through out.
