New hope for Marfan syndrome

May 10, 2008 12:07 PM

New hope for a deadly disease. Marfan syndrome strikes 1 in 5000. Did Lincoln have this disease? Previously discussed here.
posted by francesca too (19 comments total)

Obligatory Bradford Cox reference.
posted by jokeefe at 12:23 PM on May 10, 2008

Wait, so Booth was... framed?
posted by Navelgazer at 12:30 PM on May 10, 2008

Thanks for the link to the NPR story -- I'd missed it the other day. Hal Dietz is really amazing. I'm somewhere on the Marfan scale (I don't have enough of the major symptoms to qualify, but I have so many of the minor symptoms that I'm clearly somewhere in the neighborhood or have one of the related disorders), so this is welcome news -- if not for me (because my aorta's still in good shape), then for any kids I might have who might inherit it in a more severe form.

It's worth noting that except in the most severe cases, Marfan syndrome is generally not as "deadly" as it used to be even a generation ago -- the progress that's been made in cardiology, the isolation of the fibrillin gene, and a whole host of other developments have all enabled most Marfan patients to have a normal lifespan.
posted by scody at 12:44 PM on May 10, 2008 [1 favorite has favorites]

Wait, so Booth was... framed?

Other than the Marfan Syndrom Mrs Lincoln, how was the play?
posted by tkchrist at 1:12 PM on May 10, 2008

Oh, and as for the Lincoln connection: barring genetic testing, we'll obviously never know for sure; I'm strangely fond of the idea that he had it, though the theory seems to be mostly discredited these days. There have been a number of other historical figures who've been considered candidates for the syndrome. Jonathan Larson and Flo Hyman definitely had it, but it went undiagnosed until after they died of aortic aneurysms/dissections (the same thing that killed John Ritter, though he didn't have Marfan syndrome); Vince Schiavelli also had it, but died of lung cancer.

As Larson's and Hyman's deaths suggest, the big risk is when the syndrome isn't recognized in a person who then suffers an aortic aneurysm (or full-blown dissection) -- which, in the absence of a Marfan diagnosis, is often (fatally) misconstrued as something else, usually a heart attack.
posted by scody at 1:14 PM on May 10, 2008

Without DNA testing it would be hard to diagnose. Here an additional link to all the labs that do the test, mostly by direct sequencing now.
posted by francesca too at 1:26 PM on May 10, 2008

Oh, and as for the Lincoln connection: barring genetic testing, we'll obviously never know for sure;

I think we can be reasonably sure that Lincoln didn't die from Marphan's disease.
posted by three blind mice at 2:15 PM on May 10, 2008

Particularly as there's no such thing as Marphan's disease. :)
posted by scody at 2:23 PM on May 10, 2008

Well, couldn't we dig up Lincoln's grave and test his DNA?
posted by delmoi at 2:55 PM on May 10, 2008

Don't let you-know-who hear about this.
posted by Asparagirl at 3:07 PM on May 10, 2008

Well, couldn't we dig up Lincoln's grave and test his DNA?

First off, that's not even necessary (not that permission would ever be granted to do any such thing): genetic material -- i.e., blood and bone scraps -- was preserved on Lincoln's deathbed, and is in the possession of the National Museum of Health and Medicine at Walter Reed Army Hospital. The museum has consistently refused to release the material for DNA testing, in part on the grounds that it's an invasion of historical privacy.

Second, it's not actually that easy. You can't test the fibrillin gene (FBN1) to get a simple "positive" or "negative" result for Marfan syndrome; not only is there a variation of FBN1 mutations that cause the syndrome, those mutations tend to be restricted only to the family in which they run:

[In 1991], the description of the first mutation in the fibrillin gene by Dietz et al made testing Lincoln DNA a realistic undertaking. Difficulties that have come to light as more cases are studied from the molecular point of view include the fact that the mutations in this very large gene are usually "private" ones occurring in only a single family. The best approach would be to sequence the coding parts and neighboring intronic sections of the entire gene. If a change is found that is not a normal variation, that would prove Marfan syndrome. If none is found, that would not completely exclude the possibility because the change might involve controller or intronic elements not covered in the sequencing.
-- Robinson and Godfrey, Marfan Syndrome: A Primer for Clinicians and Scientists (Springer, 2004)

posted by scody at 3:30 PM on May 10, 2008

(More info here from the National Marfan Foundation on the limits of genetic testing.)
posted by scody at 3:35 PM on May 10, 2008

Lincoln died of lead poisoning.
posted by bwg at 3:53 PM on May 10, 2008

The late and muchly-missed Vincent Schiavelli suffered from Marfan Syndrome, although he certainly made a solid career out of his unique looks.
posted by Sticherbeast at 5:05 PM on May 10, 2008

The family is very, very lucky to have a doctor like Dietz. That is awesome.

I have a chronic immune disease (psoriasis) and I can testify that the difference between a middle-of-the-road physician and one who's engaged in or even just knowledgeable about current research is immeasurably vast. I recommend that anyone suffering a chronic illness do research on what doctors are leading their field and become one of their patients. I now have a dermatologist who's constantly taking part in clinical studies and I'm fortunate to be starting in a phase III drug trial in a few weeks. It's likely if I was still seeing one of the zillion other doctors I've seen in my life, I'd still be slogging away with potions and ultraviolet treatments and still not making any progress. Tuned-in doctors are where it's AT.
posted by loiseau at 5:56 PM on May 10, 2008

I have a similar tall-n-skinny disorder, Ehlers-Danlos Syndrome, so leading up to the diagnosis I became pretty familiar with the symptoms of Marfan's and EDS. They're both the kind of disorder that, once you know about them and can recognize the signs, you tend to diagnose people left and right: Joey Ramone probably, Arsenio Hall almost certainly, etc. Don't even get me started on the basketball players.

Sure, Lincoln *might* have had Marfan's (he does indeed have a few of the classic characteristics), but he also *might* have been gay, or black, or a space alien, or whatever.
posted by Sys Rq at 6:09 PM on May 10, 2008

This is indeed good news. I have Marfan's syndrome and underwent aorta/heart valve replacement 7 years ago. I'm now 37, which puts me past my life expectancy (IIRC, a study published in a Danish medical journal in 1995 put that at 35 years on average for untreated cases - after surgery, the life expectancy is normal). The use of blood pressure lowering drugs is not new though (I use beta blockers), but the need for surgery can be reduced if medical treatment is started early as described in the article.
posted by bouvin at 3:14 AM on May 11, 2008

Don't let you-know-who hear about this.

Ann Coulter?
posted by Robin Kestrel at 8:23 AM on May 12, 2008

Second, it's not actually that easy. You can't test the fibrillin gene (FBN1) to get a simple "positive" or "negative" result for Marfan syndrome; not only is there a variation of FBN1 mutations that cause the syndrome, those mutations tend to be restricted only to the family in which they run:

Yep, I've been DNA tested for Marfan Syndrome after my father died from a massive aortic dissection. I have a FBN-1 mutation, but in a place that has never previously been associated with the condition. So, while my geneticist "thinks about the result a bit" (1 year and counting so far) I'm left feeling slightly nervous - on both my own and my kids' behalf - and left with the impression that I've done little more than make a small contribution to the overall body of knowledge regarding the syndrome. Particularly annoying as neither my father nor myself met any of the major or minor criteria for Marfans other than being tall (both of us), having a grossly dilated aorta (him - unfortunately discovered too late to save him) and having an immediate blood relative with a confirmed Marfan diagnosis (me). Sure as shit, neither of us was / is either thin or flexible.
posted by bifter at 5:44 AM on May 13, 2008