Potential Cure Discovered for Marfan Syndrome

WPVI ( Philadelphia) ^ | 7/10/2006 | Anita Brikman

[wjersey]

Hundreds of people with Marfan syndrome came from around the country to the University of Pennsylvania over the weekend to hear good news.

Years of genetic research may have yielded a "cure" for the most dangerous complications of this disorder.

13-year-old Westin Corbin from Arkansas has many of the hallmark signs of Marfan Syndrome - a disorder affecting the body's connective tissues.

He is tall with unusually long arms, thin legs and flat feet, and a chest wall that seems to cave in.

His joints are loose and hyper-flexible, but the real danger of Marfan's lies inside because it also affects the aorta.

Dr. Reed Pyeritz of the Hospital of the University of Pennsylvania said, "The most important aspect is the enlargement of the aorta, the major blood vessel in the body. That leads to weakness in the wall, possibly a tear or dissection."

Ten years ago, the Tony-Award winning playwright of the musical "Rent" died of this kind of aortic dissection.

Jonathan Larson was sent home from two New York City emergency rooms with the wrong diagnosis.

Only after his death was Marfan picked up.

Now there's hope of preventing this dangerous heart artery weakening before it ever starts.

"Its actually providing the first chance to cure some features of Marfan syndrome," said Dr. Hal Dietz of Johns Hopkins University.

In his work with mice that carry the Marfan gene mutation, the drug losartan kept the aorta normal by blocking a growth factor called T-G-F Beta. This fall, a study begins with hundreds of Marfan families to see if the same thing happens in people.

The good news is that losartan is an F-D-A approved blood pressure drug already sold as Cozaar.

[HonestConservative]

Those evil drug companies strike again. s/

Great article. Tx.

[Mercat]

I had a boyfriend who had this disorder. He keeled over dead at the age of 21. My husband's roomie had this disorder. He lasted until his 30s.

[DesScorp]

The Lord bless and keep all those afflicted with this disease. I pray He heals them by however He sees fit. Perhaps He'll do just that with this new research and medicines.

[keat]

I had no idea this syndrome existed but, reading the symptoms and looking up some pictures, I'm sure a guy I knew in high school had it. We all thought he was tall a skinny but it wasn't natural looking, the chest part. I'm guessing he's not around now.

[SunkenCiv]

The Pharaoh Akhenaten is often considered to have suffered from Marfan's.

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[SunkenCiv]

Pharaoh Akhenaten connection to ancient history. :')

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[prion]

Many people think Abe Lincoln did, too.

[blam]

"I had a boyfriend who had this disorder. He keeled over dead at the age of 21. My husband's roomie had this disorder. He lasted until his 30s."

My family has a peculiar case with Marfan Syndrome.

Here's the story: My father and his brother married my mother and her sister (two brothers married two sisters) and each family had six children. My uncle and aunt had six children with Marfan Syndrome and all but one (he's 63 and 6'8" tall) died before their mid-20's. All the children from the union of my mom and dad were unaffected. I'm the tallest in the family at 6'0". We don't understand it.

[blam]

BTW, you'd easily mistake my surviving cousin for Abe Lincoln, looks just like him.

[Junior]

Woo Hoo! I have Marfan's (I don't have the aortal insufficiency -- yet). I'll have to check this out.

[SunkenCiv]

Blam, interesting story about your double first cousins.

Marfan's Syndrome page:
http://www.ygyh.org/marfan/whatisit.htm

Abraham Lincoln health history:
http://www.doctorzebra.com/prez/t16.htm

[MoochPooch]

Isn't Bin Laden supposed to have it also?

[Pelham]

Lincoln is believed to have had Marfan's.

[twigs]

You have an interesting story. Does the Syndrome need genetic material from both parents? Or--I would guess-not all children of affected parents carry the genetics that cause it?

[blam]

"Does the Syndrome need genetic material from both parents?

I don't know.

" Or--I would guess-not all children of affected parents carry the genetics that cause it?"

Another FReeper suggested in a FReepmail that maybe the 'milkman' paid a visit.

[skepsel]

I thought there was also speculation Lincoln may have suffered from acromegaly (don't know if I spelled that right), a genetic disorder of some type characterized by tallness and large hands, feet and jaws.

[Ditter]

I have a friend who's daughter has Marfran, she doesn't look anything like Abe Lincoln. She is very short and has no neck, by that I mean it is very thick and her face seems to stretch right to her shoulders (hard to describe). She is in her middle 20's and has had multiple surgeries on the connective tissues all over her body. Seems like I remember that her fingers were connected together and I have heard she has the aorta thing too.

[Pelham]

You spelled it right. Andre the Giant had that. Its symptoms seem a bit different from Lincoln's physical appearance. A protuding brow, lower jaw and nose characterize it, and Lincoln's facial structure isn't quite that.

[SunkenCiv]

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