Medical Q + A

Question: What is the difference between Marfan syndrome and MASS Phenotype?

Medical Q + A: Archive 

Question: What is the difference between Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS) and Vascular Ehlers-Danlos syndrome (EDS)? Please Note: There are other types of Ehlers-Danlos syndrome.  The vascular type is the most similiar to Marfan syndrome but other types types also have some overlapping features.

Answer: MFS, LDS, and vascular EDS are all genetic syndromes that affect the aorta.  Although these conditions have overlapping clinical features, there are important differences in their medical management, including such important issues as different monitoring requirements and different thresholds for surgery.  As a result, it is essential that a person has the correct diagnosis.  The guidance of a knowledgeable geneticist is key for making the correct diagnosis.  Different genes are altered in each of these disorders, and therefore genetic testing  is a valuable tool in arriving at the correct diagnosis.  Please Note: LDS was just identified in 2005.  Due to this, there are people who were diagnosed with MFS but in reality have LDS.  If you have been diagnosed with MFS but have features of LDS you should speak with a doctor who is knowledgeable in both syndromes.  If you have questions about your diagnosis or need help finding a doctor in your area, contact the NMF Information Resource Center at 1-800-8-MARFAN ext. 26 or email support@marfan.org.

The gene altered in MFS is FBN1. The genes altered in LDS are TGFBR1 and TGFBR2.  The gene altered in vascular EDS is COL3A1.  Due to this, each syndrome is distinct and while there are overlapping features each disorder is unique. The chart below details the overlapping symptoms of Marfan syndrome with other related disorders including LDS and EDS.

So what makes MFS, LDS and vascular EDS different?

Aneurysms: Aneurysms and dissections in LDS tend to be more widespread through the the arterial tree (in arteries throughout the body), as opposed to MFS, in which the aneurysms and dissections occur primarily in th aorta.  Therefore, more extensive imaging is recommended for those who have, or are suspected of having, LDS.  In addition to periodic echocardiograms, CT scans or MRI's with contrast of the head, neck, chest, abdomen and pelvis are recommended.  Another distinction is that aortic root aneurysms in LDS tend to dissect at smaller diameters (at a smaller size) than those in mFS.  Therefore, in LDS, it is generally recommended to have surgery to repair the aortic root when the aortic size is around 4cm.  In contrast, the general guideline for MFS for this surgery is around 5cm.

Vascular EDS patients can rupture or dissect an artery without having an aneurysm form (enlargement of the artery).  In some patients aneurysms do form.  Surgical repair of the aorta or arteries can be difficult in patients with vascular EDS because the tissue is friable and sutures sometimes do not hold well.  MFS and LDS patients do not have this problem when they have surgery.

Lens Dislocation: Approximately 2/3rds of those affected with MFS have lens dislocation and many require eye surgery as a result.  Lens dislocation is not known to be associated with LDS or vascular EDS.  Therefore, the presence or absence of this feature can assist in arriving at the correct diagnosis.

Arterial or Organ Rupture: Arriving at the correct diagnosis of vascular EDS is important because this is considered the most serious form of EDS due to the possibility of arterial or organ rupture with this condition.  The EDS National Foundation advises that chest and abdominal pain in those with vascular EDS should consider it an emergency trauma situation and immediately seek examination by MRA, MRI, or CT-scans, not x-rays because they tend not to pick up a problem with an artery.

Cervical Instability: Cervical instability is unique to Loeys-Dietz syndrome.  It is therefore recommended that before people with LDS have any kind of surgery they should have an x-ray of their neck to check for cervical spine instability, which can affect intubation.

For more information on Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome click here or contact the NMF Information Resource Center at 1-800-8-MARFAN ext. 26 or support@marfan.org.

Question: Is there any way to add muscle to our arms and legs so we don't look so skinny?

Answer: There is no such thing as the perfect body.  Everyone has at least a couple of things about their appearance they wish they could change, whether it is height, weight, hair, color, breast size, or musculature.  You are not alone if you feel frustrated or embarrassed about your body. 

Certain features, such as an indented chest can be corrected through surgery.  Crowdeed teeth can be corrected with orthodontics.  You may be able to get contact lenses to replace thick glasses.  Talk to your doctors about your options.

Some physical aspects of Marfan syndrome and related disorders are not easily changed.  For some people with Marfan syndrome and related disorders, being thin in not something likely to change.  Doctors do not understand why people with Marfan syndrome have so much difficulty gaining weight.  There is no special diet, dietary supplement, or weight lifting program that will add desired pounds. (Note: Weight lifting is not a safe activity for people with Marfan syndrome as it puts too much strain on the heart and aorta.) Some people with Marfan syndrome do put on more weight as they get older.  Due to this it's important to have healthy eating habits now even though you may not gain any weight. Being over weight when you are older can add more stress to joints and can cause other health concerns.  Remember everyone wants to change something about their body.

Teen Perspective:

Use what you have to your advantage.  Be proud of the way you look and embrace your so-called "flaws." It  is is those flaws that make you unique.  Develop a style and flair all your own. -Anonymous

Don't panic! It's not as bad as you think!  It's kind of reassuring to know there's a reason why you can't build muscle or why your skeleton is weird or why you are so tall. -Clare

For a long time I felt like Marfan syndrome was a burden, hindrance that held me back, that made me stand out when I didn't want to.  I came to realize that I had it completely backwards.  I am different.  Being different implies individuality.  With Marfan syndrome came a sharp mind, determination, motivation to succeed, and most of all a differnt perspective. -Matt