Honest Abe - is one of our most revered U.S. presidents ever. He overcame humble beginnings in Kentucky, was mostly self-educated, and despite a lot of early adversity, he still helped abolish slavery and lead our country through a Civil War. You may ask what is his connection with medicine -- specifically a rare connective tissue disorder? President Lincoln left behind a pretty distinct legacy during his time in public office, but this man was also known quite well for this physical strength and stature. At 6'4" he still holds the title of "tallest president". Height wasn’t Lincoln’s only distinguishing physical characteristic. While he was in office, a journalist described the president’s “long pendulous arms” and “hands of extraordinary dimensions…far exceeded in proportion by his feet,” According to a book around his DNA. These unique descriptors have led doctors to wonder if Lincoln perhaps had Marfan syndrome, a relatively rare genetic condition that was first identified decades after the politician’s death.
Marfan Syndrome in a nutshell: is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body.
Its pathogenesis is centered around a chromosomal defect/mutation on Chromosome 15
It's harder to diagnose in children - as symptoms don't become readily apparent until puberty.
Chronic problems with the musculoskeletal + cardiovascular system are common as well as lung (spontaneous collapse) and vision related issues.
Surgical corrections of the above problems are also deployed in many patients (specifically for scoliosis and vision (nearsightedness) problems
The syndrome has no negative effect on intelligence.
Marfan syndrome is one of those unusual conditions that is seldom diagnosed until there is a crisis, like --an aortic dissection. (This is illustrated in the image above - courtesy of Priyanga Singh). According to the National Marfan Foundation, misdiagnosis of the dissection is a too frequent cause of Marfan syndrome patient fatalities. Recognition of symptoms and awareness of this condition at all stages of medical care are key to reducing fatalities.
While other conditions (hypertension, pregnancy, coarctation of the aorta, bicuspid aortic valve, rare connective tissue conditions) have been associated with aortic dissection, nearly all Marfan syndrome patients are at high risk for aortic dissection at some point in their lives if they do not receive medical treatment and change their lifestyle. An estimated 200,000 people (one in 5,000) in the U.S. have Marfan syndrome. There are 5,000-10,000 dissections a year.
A patient with an aortic dissection may not appear to be a “typical” chest pain patient – he or she may be younger, tall/thin, and have no known risk factors for heart disease. It is likely that emergency first responders will encounter this condition. 50% of patients with undiagnosed aortic dissection die within 48 hours, a death rate of approximately 1% per hour. Dissections of the aortic root and ascending aorta require immediate surgical intervention. As a result, it is extremely important that emergency first responders are prepared to evaluate symptoms that could be related to a dissection and expedite emergency treatment.
Some additional findings that EMS may encounter:
The 5 Ps - Pain Pallor Pulselessness Paresthesia Paralysis -or-
• Weakness in one or both legs or arms • Fever • Radiation of pain to back or stomach • Bloody diarrhea or coughing up blood • Stroke-like symptoms due to occlusion of carotid artery • Neurologic signs, similar to those of a transient ischemic attack or stroke • Hoarseness or a sensation of having a lump in the throat, wheezing, dyspnea, or cough.
Source: teachmesurgery.com
Aortic dissections from the initial intimal tear can progress distally, proximally, or in both directions from the point of origin. Anterograde dissections propagate towards the iliac arteries and retrograde dissections propagate towards the aortic valve (at the root of the aorta)
As EMS providers we must always attempt to cast a wide net around the differential diagnosis and remember that chest pain can certainly be caused by things other than acute myocardial infarction. Advocate for these patients and consider transport to a specialty center if the patient's clinical condition allows for it.
November 13, 2023
Author: Joshua Ishmael, MBA, MLS(ASCP)CM, NRP
Pass with PASS, LLC.