Marfan, Do You Have It?
April 3, 2009 | Family
Today we have a guest blogger, Bruce Klein, President Northern Illinois Marfan Chapter. I hope you all read what Bruce has to say. It is life saving.
This is the year of Abraham Lincoln’s 200th birthday, which brings on my question;
What do Marfan Patients and Abraham Lincoln Have in Common?
Abe Lincoln was thought to have Marfan syndrome. What is this dreaded disease?
Marfan syndrome is a connective tissue disorder discovered by Dr. Antoine Marfan in 1896 in France when he treated several children with this disorder.
This sometimes inherited condition effects approximately 1 in every 5000 people in the U.S. While only sometimes inherited, it’s been proven that 75% of the cases diagnosed are inherited and the other 25% of the cases are a new spontaneous mutation at birth.
Researchers today have learned that this condition is caused by a mutation of certain chromosomes that effect a protein called fibrillin. Fibrillin is the glue that holds our bodies or connective tissue together and is found throughout us from head to toe. Like in most syndromes and diseases there are varying degrees of Marfan syndrome from mild cases to severe and life threatening. Diagnosis of Marfan syndrome is often missed by doctors who do not have experience in treating patients with this disorder. We have 5 established clinics in the Chicagoland area which will be posted in this blog Monday, April 6.
Some symptoms of Marfan syndrome are:
Taller than Average Long Thin Face
Hyper-mobility of All Joints
A Disproportionment of Body, Arm & Leg Length
Long Fingers and Toes
Flat Feet
Eye, Lens Dislocation
Curvature of the Spine
Hernias
Stretch Marks
Chest Deformity (Pectus Excavatum or Carinatum)
Spontaneous Pneumothorax
Heart Murmur & Aortic Artery Dilation (Aneurysms) which can be fatal
If you know someone with 3 or more of these symptoms please tell them about Marfan syndrome and help us save a life.
For more information go to the website for the National Marfan Foundation, www.marfan.org. You can also email or call us at our chapter voice mail number listed above in our letterhead.
How do I know so much about Marfan syndrome? I have it and I am.
Bruce C. Klein, President
Northern Illinois Marfan Chapter
The Northern Illinois NMF Chapter
1328 Court “O”
Hanover Park, IL 60133
630-415-0044 or 1-800-8-MARFAN
email: bklein01@sbcglobal.net
Thank you all for your time. Please return on Monday when Bruce will have more on this life threatening disorder.
Sloane Taylor
dThis is very interesting and I’m glad Sloane is taking time out to talk about this. A couple of questions that you’ll answer Monday:
On April 3rd, 2009 at 12:07 pm1.You listed what to look for, are there any mental symptoms you should look for?
2. How does this effect learning and what health issues are there?
3. Can Marfan cut a life short?
4. Are there any tests that can be performed before birth to detect this?
Thanks,
Yasmine
Hi Yasmine,
Thanks for asking. There is a test but it does not always show a positive conclusion.
Mental symptoms can happen to anyone but there are many children with ADD effects that are diagnosed with Marfan.
If someone has Marfan and it is not monitored correctly by a physician with Marfan knowledge an aneurysm can grow and rupture causing death.
Hope this helps,
On April 3rd, 2009 at 3:56 pmBruce
Hi I’m an active boy of 19 years old and I recently learnt about Marfan’s Syndrome. I noticed a couple of the symptoms in myself and began to worry a bit. My parents think Im worrying about nothing and I probably am but what do you think?
The main symptom I noticed was pigeons chest (one side stuck out) which I developed at about 12 but its barely noticible now as I do weights at the gym very often.
I am tall at 6″5 but my arm span is the same from what I’ve measured. My family is also tallish with dad at 6 foot and brother at 6″1 and a cousin on dads side taller than me. I used to be a bit lanky but I have filled out with muscle a bit now and I am 200lb and can bench about 170lb so am fairly strong.
I have no hypermobility but my joints to click a lot if this is the same? but this has never given me any pain. My hands and feet are large but proportional to my height.
Eyesight fine, heart feels fine but havent checked it (havnt needed to) and no flat feet.
My family has no history of Marfan or premature death due to heart problems but I know this doesnt rule it out completely.
I dont feel weak in the heart or any pain anywhere but just a bit worried. I do a lot of sport and working out and so am worried about the implications of Marfans. Do you reccomend in your experience that I get checked or am I just worrying about nothing (if so sorry for wasting your time)?
Thanks a lot
On April 15th, 2009 at 9:46 amHi Will,
Bruce is sending you an email tonight in answer to your questions. Please let me know if you don’t receive it.
Good Luck!
On April 15th, 2009 at 3:22 pmSloane
Absolutely, Andrew. I’ll send you his email addy off this loop.
On July 21st, 2009 at 12:40 pmBruce,
I have been trying to take my mind off whether or not I have marfans. I am 6’1.5″ but my mother is 5’8″ and my father was 6’0″. My brother is 5’11”. I have have passed s slit lamp and anthroprometric measurements. Only on measurement upper to lower segement (86%) was even close. I do have an arched palate and subtle/mild pectus excavatum. A genetic specialist has told me I do not meet the ghent criteria (gold standard of diagnosis).
On January 3rd, 2010 at 10:35 amHowever, I did have an echo that showed my root was at 38 mm. The upper extreme of normal indexed to my height and weight (210 lbs) I am fairly built with average muscle and definition.
I am concerned that I have a mild case that will continue to progress.
I am 33 now, and had all my tests between the ages of 30 and 32.
I have been told that my issue is mental and not physical.
My main question is this… at what age can my aorta be measured to yield relative assurance that progressive dialation does not occur. (i.e. now that I am done growing, should I feel reasured that I will not reach a point where aortic repair is necessary?) Thank you for your response and consideration.
Vine, I’ve sent you Bruce’s addy. It’s best you contact him direct with what you’ve written here. Bruce is sure to know the best way to help you.
I wish you well.
On January 5th, 2010 at 8:30 amHi Sloane! This is a very interesting and in-depth blog. One of the few, which are presented so clearly. In fact, some of the information on here has actually made me think twice about my “marfanoid” features. Do you happen to still be in touch with Bruce? If so, could you please send me his link or email?
Much appreciated,
John.
On February 19th, 2013 at 9:38 amHi John,
I sent you Bruce’s email address. Please keep me informed.:)
On February 19th, 2013 at 11:34 am