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Briefly: What is it?
A single gene mutation causing defective production of fibrillin in the extracellular matrices of body systems.
Case Study!
A 38 y.o. man comes to the ED two hours after eating in a restaurant with his wife. He c/o severe abdominal pain, nausea, and just had a loose BM. He had a couple of cocktails at dinner. He has a hx of HTN but can’t remember the name of his medication. On further questioning he states that the pain started in his chest but now has moved to his mid-abdomen. His BP is 160/110, HR is 90, RR is 18. His abdomen is tender on deep palpation.
Lets Start!
What causes it?A single gene mutation of the FBN1 gene on chromosome 15, which encodes a glycoprotein called fibrillin-1.
Hereditary~No one race or gender
seems to be affected more~Estimates of 60,000-200,000 (1:1500-5000) people in the US alone have Marfan Syndrome~One of the most common hereditary disorders~The most common single gene mutation disorder~ Increasing age of father shown to increase likelihood of Marfan Syndrome
The odds of getting it?
Dominant inheritance gene
Or
New mutation (1:4)
Fun Fact! The average person has 8 genetic mutations!
Important!
Don’t count on seeing all or even some signs of Marfan Syndrome.
There are many different levels of affectedness.
With that said, here’s what to look for!
Skeletal Features (Picture time)
~Tall and thin (dolichostenomelia)
Longer limbs Shorter thorax, Arm span greater than height Increased metabolism (thin)
Skeletal Features (other) Flat Feet Joint hyper mobility Malocclusions (misaligned teeth) Stooped Shoulders High Palate Can’t straighten at elbows (deep set sockets) Hernias (from underdeveloped musculature) Unexplained stretch marks (sometimes your only clue) Dural Ectasia
Look for speech disorders caused by misaligned teeth, high palates, and small jaws.
Pulmonary
Spontaneous pneumothorax!
As a paramedic, keep an eye out for sudden chest, back, and arm pain, shortness of breath, and cyanosis
Breath sounds?
Cardiology Aortic enlargement Aortic aneurysm Aortic valve regurgitation Mitral valve prolapse Murmurs
As paramedics, this is what you’ll need to worry about!
(that’s why they wanted me to talk about this)
Aortic Enlargement and Aneurysm
Aorta and major arteries have the highest concentration of elastic connective “stretch” tissues in the body.
Diagnosed with many forms of X-Ray/Contrast Scans AAA most common type of aortic aneurysm because amount
of protein fibers reduce the farther away from the heart the aorta is.
S/S? Pulses?
Pulsating above umbilicus
Aortic bruits
Pain in abdomen, back or flank.
Hypertension (compensation)Pain/hypertension/mass
triadAcute, s
evere, c
onstant
pain.
Tearing/ stabbing pain
“Never felt this before”
Feeling of doom
Migrating
Aortic Dissection/Rupture
Free flowing accumulation of blood in abdomen
85% survivalwhen diagnosed andtreated.
Misdiagnosis
Huge opportunity for misdiagnosis
Chest pain- MI, Pulmonary Embolism, Pleurisy…
Abdominal – Flu, food poisoning, Ulcers… Back- Kidney stones, back/spinal injury…
50% of untreated dissections won’t last 48 hours. 1% survival rate drop per hour.
Mitral valve Prolapse
http://www.youtube.com/watch?v=IBBCu3x_TKo
Complications of infection and sepsis Complicates aortic repair surgeries
Why Marfans Syndrome?
250 times
more likely to experience aortic
dissection!Average life expectancy of person with Marfans is 35 – 45 years
Treatment?
Stabilize patient
ABC’s, give Oxygen
Get to a certified emergency department that can handle a trauma surgery.
Blood pressure?
Drugs? Beta Blockers
Woman with Marfans syndrome can now become
pregnant thanks to beta blockers. Previously, pregnancy
put to much stress on the aorta.
Famous People? Abe Lincoln? Nope! “multiple endocrine neoplasia Type 2B” Flo Hyman – Professional volleyball player, died during a match against
Japan of aortic dissection. Arsenio Hall - Comedian Johnny Appleseed (speculative) Joey Ramone of “The Ramones”
died of lymphoma Osama Bin Laden (speculative) Johnathon Larson – Composer of Rent
Wrap-Up!
Suspect Aortic Dissection for chest, back, or abdomen pain (of any sort)
Recognize connective tissue disorders in people
Communicate your suspicion Get it DIAGNOSED!