Marfan characteristics

[TreeFrog7]

I'm a 44-year-old woman in good general health, and I've wondered for years if Marfan syndrome ran in my family. My dad's side of the family is tall and slim. Both my dad and his maternal uncle died of aortic aneurysms, and my dad's older brother was diagnosed and had his aneurysm repaired before it 'blew". This man's son (my cousin) was born with something the family called "double ribs", and his sister died in infancy of brittle bone disease.

I myself and also tall and slim, with very bendable joints, long fingers and toes, narrow wrists & ankles, and arm span greater than height. I have severe myopia and a high arched mouth roof with crowded teeth. I suffer from occasional migraine.  I developed stretch marks on my pelvis and thighs at puberty. One of the vertebrae in my upper back seems to be displaced to the left (several people have noticed it), but I have never had it investigated because it gives me no pain.

In fact, I have excellent general health, so my quesiton is mostly one of curiosity. I know diagnosis cannot be made without genetic testing, but do my symptoms/characteristics suggest I ought to get this checked out? My MD did send my to have my descending aorta scanned just to be on the safe side, after I told him about my dad and his family. All is well with it.

Thanks in advance for any insight.

[Jordanna Joaquina, MS, CGC]

Marfan syndrome is a genetic condition that affects the connective tissue in the human body. Connective tissues are proteins that support skin, bones, blood vessels and other organs. Marfan syndrome symptoms can be mild to severe. The symptoms vary widely in severity, timing of onset, and rate of progression.

Marfan syndrome is inherited in an autosomal dominant manner, which means that having a single mutation in the FBN1 gene is sufficient to cause the condition. People with Marfan syndrome have a 50% chance with each pregnancy to have an affected child. Most cases are inherited from an affected parent.

We recommend that you meet with a medical geneticist, who can preform a physical exam as well as review your personal and family history. A clinical diagnosis is based on family history and the observation of characteristic findings in multiple organ systems. A clinical diagnosis can be confirmed by genetic testing. Early diagnosis is important, as routine surveillance and treatment can help to manage some of the symptoms and sometimes prevent related problems. You can find a medical geneticist at the American College of Medical Genetics website. We wish you the best.

[TreeFrog7]

Thank you Dr. Joaquina for a very informative answer!