A few weeks ago the top Marfan researchers released an updated set of diagnostic criteria. I’ve been planning a post about it for awhile, but I wanted to take the time to make sure I fully understood it myself before I undertook the task of writing about it. As it stands, I’m going to split up my analysis/thoughts into two posts. Today I’ll cover the reasoning behind the new criteria and Thursday I’ll break down the new criteria. The National Marfan Foundation has put together information on the new criteria. And as a reminder: I am not a doctor, I’m just trying to translate the scientific jargon into an easier to understand format. Any specific questions you have about the new criteria can be directed to Amy Kaplan, RN, at the NMF: firstname.lastname@example.org or your doctor.
I’ll be the first to admit I was surprised by the new criteria. At first reading I felt like the researchers had made some very big changes and I wasn’t sure that I agreed with them. I ended up putting the paper down halfway through to digest what I’d read so far. After discussing it with my Dr. Dietz, people at the NMF, my own cardiologist, and reading through the paper completely, I feel a lot better about it. The new criteria are going to be great for our community.
In 1996 the top Marfan researchers met in Ghent, Belgium, to update the 1955 diagnostic criteria for Marfan syndrome. These criteria have been known as the Ghent criteria for diagnosis of Marfan syndrome. They stipulated (just to generally summarize) that a patient meet two “major” areas of system involvement and one “minor” area to get a diagnosis of Marfan. This was sometimes confusing.
However, there have been amazing advancements in research for Marfan and related disorders over the last decade and it has become clear from that that there are some holes in the Ghent criteria. These include doctors who are handing out the Marfan diagnosis like candy (“Oh, you’re tall, thin, and flexible? Must be Marfan!), which is problematic on two ends: diagnosing patients as having a life-threatening disorder who actually have NOTHING wrong with them, and diagnosing patients as having Marfan who actually have a related, and potentially more serious, connective tissue disorder. Then there are the physicians who are under-diagnosing patients. For example, I know of a patient with lens dislocation and aortic enlargement who was sent away because he was short, so therefore he “couldn’t have Marfan.” (Not true, of course!) Along those lines, there are many doctors who fail to understand that Marfan is progressive and dismiss children who clearly meet some signs of the syndrome, telling their parents that they are fine. Personally, I didn’t meet criteria until I was 22 years old.
So, the purpose of the revised Ghent criteria is to simplify the diagnostic process for physicians to ensure an accurate diagnosis for patients. Some of these related disorders are not well known or, like Loeys-Dietz syndrome, are relatively new. When a diagnosis can be made (and we all know this isn’t always positive at the first try; it took me 12 years), it’s vital because the cause determines the treatment. While beta blockers are used for both Marfan and Loeys-Dietz, for example, surgical guidelines are very different for the two and thus it’s important to know which you have.
I am glad that the paper goes over the diagnostic considerations for a host of other related disorders. My only beef is that they didn’t address hypermobile or classical Ehlers-Danlos syndrome. While I realize neither of these types carry aortic risks, it’s not uncommon for patients who have these disorders to be misclassified as having Marfan syndrome due to the skeletal characteristics. I know several families off the top of my head who have had their diagnosis switched from Marfan to one of those two types just within the last year.
While I think that at first read the new criteria are a little confusing for us “lay” people, I believe this will make things much easier for our doctors. I also encourage everyone to bring a copy of the new criteria to your doctors. We have a responsibility to help spread the word about every advancement, particularly something as big as this! I’ll be bringing a copy of the paper to my son’s pediatrician this week.
And again: The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.
Loeys, Bart L., Dietz, Harry C., Braverman, Alan C., Callewaert, Bert L., Backer, Julie De, Devereux, Richard B., et. al. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47:485-495.