Marfan Syndrome

[debmidge]

Possibility that he has, in addition to Celiac, Marfan. Anyone else with this syndrome?

[ianm]

Abraham Lincoln had it but that is all I know about it.

[eleep]

It may be the reason my cousin has been having some significant heart valve issues when she's only in her thirties and in really good shape, otherwise. That's really about all I know as well.

[tiredofdoctors]

Okay, it's not much, but here's what I know about it:

Marfan's syndrome is a genetic (anomaly?) which produces many different signs and symptoms, and doesn't affect each person the same way. The typical "Marfan" patient is very tall, usually referred to as "lanky", and the hallmark "look" is that their arms are proportionately longer than their body and often their legs.

The syndrome itself produces hypermobility throughout the body -- sometimes not in the MUSCLES as much as in the connective tissue -- ligaments, vessels, things of that nature. They are almost always hypermobile, some can take their hands, clasp them in front, and without releasing them, put them behind their back. With regard to the vessels, they do tend to have more vericosities (this includes hemorrhoids, which are vericosities in the rectum -- okay I said it, rectum), have more heart valve issues, including the tricuspid valve (a little more uncommon than the Mitral valve -- which is pretty common) and most importantly, the Abdominal Aortic valve/vessel - - that has a tendency in some Marfan's patients, to develop an aneurysm. If they suspect Marfan's, usually they will do a trans-esophageal (echocardiogram, I think), to rule out any hint of aneurysm. If caught early, it is very "fixable", and is not of great concern.

Okay . . . that's it. Correct me if I'm wrong . . . everyone else does

[Fiddle-Faddle]

Lynn, I don't see anything to correct! I might add, though, that I read that learning disabilities seem to occur with very high frequency in men with Marfan's.

My oldest was checked for Marfan's (they do a blood test--it shows up as a genetic mutation) as he is extremely tall and lanky, and has cardiac and other issues. They didn't come up with anything, thoguh.

Niccolo Paganini (famous Italian violinist and composer)in the 19th century who was so fantastic, ladies apparently swooned in great numbers at his performances) probably had Marfan's as well. Every picture of him shows him with fingers about twice as long as mine (no wonder he played so well!).

[Invisistill]

I have it. Abraham Lincoln has recently been proven to NOT have it (BTW there are several other similar disorders and misdiagnosis is common) Paganini yes, and also Rachmaninoff.

Physical characteristics are kind of like what you were saying, your arm span CAN be greater than your height but its more like everything on a normal person was stretched longer. This is also why you may have convex or concave chest. Hyper mobility is in joints mostly, a lot of us are double jointed and/or super flexible. One big sign is if you can make a fist over your thumb and your thumb sticks out the other side significantly. Also a high palate is looked for. Keep in mind however that you can have all the symptoms or none. Also the genetic testing, which I assume you were referring to by the "blood test" doesn't mean anything if they find nothing. They have found the mutated gene in me however it's not the same for everyone, and is not a conclusive test.

Bottom line is that it weakens the connective tissues, which are everywhere. I'm 26 now and have had open heart surgery, rods to correct scoliosis in my back, eye surgeries, and many other things. One thing though is if you do have the heart issues (murmur, enlarged valve, leaky valve, whatever) there is a risk of aortic dissection or aneurysm, and are at risk to, as my doctor put it so nicely... "drop dead" suddenly. I don't mean to scare people, but it is a life-threatening, serious genetic disorder and most people with it eventually have a heart problem, and I don't like it when people describe it as "fixable" as far as I'm concerned nothing has been "fixed" I'm happy, but I definitely don't feel like a normal healthy person with my Oxycontin prescription if you know what I mean, it's certainly an experience and doctors kind of treat you like a freak show if you have certain symptoms.

I suggest looking it up on one of the official Marfan sites.

If it helps, I wouldn't change what I've gone through, I'm happy being me and happy with my life.

Feel free to ask me anything you want

[singingmaya]

Okay, it's not much, but here's what I know about it:

Marfan's syndrome is a genetic (anomaly?) which produces many different signs and symptoms, and doesn't affect each person the same way. The typical "Marfan" patient is very tall, usually referred to as "lanky", and the hallmark "look" is that their arms are proportionately longer than their body and often their legs.

The syndrome itself produces hypermobility throughout the body -- sometimes not in the MUSCLES as much as in the connective tissue -- ligaments, vessels, things of that nature. They are almost always hypermobile, some can take their hands, clasp them in front, and without releasing them, put them behind their back. With regard to the vessels, they do tend to have more vericosities (this includes hemorrhoids, which are vericosities in the rectum -- okay I said it, rectum), have more heart valve issues, including the tricuspid valve (a little more uncommon than the Mitral valve -- which is pretty common) and most importantly, the Abdominal Aortic valve/vessel - - that has a tendency in some Marfan's patients, to develop an aneurysm. If they suspect Marfan's, usually they will do a trans-esophageal (echocardiogram, I think), to rule out any hint of aneurysm. If caught early, it is very "fixable", and is not of great concern.

Okay . . . that's it. Correct me if I'm wrong . . . everyone else does

You wrote:

"If they suspect Marfan's, usually they will do a trans-esophageal (echocardiogram, I think), to rule out any hint of aneurysm. If caught early, it is very "fixable", and is not of great concern."

Studies show that marfans have a lifespan of 70-72 years old, mainly because of the heart valve issue, the default is at the attachment and with time it enlarges. So surgery and medication are the best way to monitor and prevent. But I just want to comment on the way to go about testing for heart valve defect, it's now done with a heart ultrasound with is a lot less invasive than the trans-esophageal (whatever that is - sorry, just adding my two cents here)

Hi, I was diagnosed with Marfan at 42 years old (two years ago) and advised not to run, swim, or do all straining exercises to conserve the joints. I am glad I didn't know I had marfan when I was a kid, because I did all kind of competitive athletics and won medals and travelled a lot. My body and health were never an issue (maybe migraines.)

Also in reply to the first post in here, which is why I registered in the first place, finding this with google, celiac misdiagnose is incredibly, sadly, common. I was "diagnosed" instead with IBS all my life (false neg. blood tests), in fact several dr. kept telling me that all women stress and carry it in their belly and that's why I have so much cramping. In their defense they didn't have genetic testing and both celiac and marfan are newly discovered diseases. They keep figuring out new variations and severity for both from individual to individuals, this is why a good rheumatologist is key (I had incredibly painful joint pain when I turned 40 years old, he said "celiac" I said "no way it's ibs" he said "no it's celiac, you'll see!")

They have just approved new testing new meds for the marfan's heart valve defect. I feel like I have underperformed my capabilities in life because I was misdiagnosed and in pain very often, tired, bloated ect.. I also suffered from severe migraines, again dr. told me it was genetic, but I was stubborn enough to research it for many years, and found an articles on the new England Journal of Medecine called "H Pilorii linked to migraine" that CHANGED my life. My newly found Russian rheumi in San Diego took a look at me and said he suspected I was a marfan, he took a look in my mouth, checked my palate, and said "it's deeper than regular people" (what?? LOL) and looked at my very thin wrists and with hands xrays measurements a week later and a blood test for the genetic test confirmed marfan. Heart is ok luckily but an aunt in France has a severe heart valve hole and I told her about marfan running in the family.

I lost weight initially two years ago when I cut the gluten out but MAN what beautiful continuous energy and clear mind all of a sudden, it's like a whole new life. I put weight back on with the dam potatos and self indulgent attitude that gluten free diet keeps me thin - hu.. no. I still have to work at it.

I hope this was helpful. sometimes severe loss weight is due to parasites. This in the mail diagnostic co. online, great mountains (??) is famous for very accurate stool tests for parasites. You can google it, it's the number one in the U.S. Otherwise there are beautiful new genetic test packages for $250 or so with multiple dna testing approved very recently by the fda that are sold in local longreens.

Sorry for rambling.

Best of luck, and take good care.