Marfan Syndrome is part of a spectrum of connective tissue disorders, it fits under the umbrella of Hypermobility Syndromes along with Ehlers Danlos Syndrome, and others.
Marfan Syndrome is a genetic condition. In people with Marfan Syndrome, the protein ‘fibrillin-1’ is created faulty. Through a series of complicated genetic processes this causes problems with connective tissues. Connective tissue is found throughout the body in the blood vessels, joints, skin and eyes to name a few.
Marfan Syndrome affects about 1 in 5,000 people and is usually passed from parent to child. Parents have a 50% chance of passing the disorder on to their biological children. Some people with Marfan develop it without a family history through spontaneous mutation. Marfan Syndrome affects all genders and ethnicities equally.
Everyone with Marfan Syndrome is affected differently, people with Marfan experience a range of issues with one or more of the places where connective tissue is found. Some people are severely affected in terms of pain, surgeries and more, others can live relatively normal lives with occasional check ups.
Some of the signs and symptoms of Marfan Syndrome are easy to identify and others are more subtle.
Many people with Marfan are tall and slim with long limbs and fingers but the condition is so much more.
People with Marfan often develop scoliosis, curvature of the spine. Severe scoliosis can lead to breathing, digestive and cardiac issues along with severe pain and may eventually lead to spinal fusion surgery. For more mild scoliosis physiotherapy is often effective but may need to be adapted to suit each persons needs. Splinting and bracing can also be effective and many people wear corsets for back pain, this should only be done after consulting a doctor.
Marfan can cause deformities in the rib cage, people with Marfan can have either a sunken chest or one that sticks out. Severe deformities can lead to breathing issues.
Many people with Marfan have Hypermobile joints, this can be mild or severely disabling. Often unstable joints can benefit from splinting along side physiotherapy. Hypermobile joints combined with scoliosis can mean both acute and chronic pain. There are plenty of methods of methods of managing pain besides medication. Pain management requires an individual approach. Unfortunately some methods such as TENS aren’t suitable post-spinal fusion. Hypermobile joints can also lead to flat feet so comfortable, supportive shoes are essential.
Crowded teeth and other dental issues are common. If you’re unlucky enough to need dental work under general anaesthetic you might benefit from reading about my experiences even though I have EDS.
Stretch marks are common with Marfan and are often not related to weight loss or gain. Stretch marks are primarily cosmetic and not functional but upsetting none the less.
Heart problems including murmurs. Complications with the aorta including dissection, aneurism and valve malformations are a common feature of Marfan and can be fatal. It’s important to have regular checkups with a cardiologist if this is the case. Further medical or surgical input might be needed. Sudden and unexplained lung collapse (Pneumothorax) can also occur and will need medical intervention.
Eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and cataracts are all common features with Marfan. Many high street opticians might not be educated on these factors so it’s important to find an optometrist who’s willing to learn.
Approximately 60% of people with Marfan Syndrome also have a complication called ‘dural ectasia’. This is a widening or ballooning of the dural sac surrounding the spinal cord. Basically the membrane that holds the spinal fluid in place gets stretched out. It can also lead to the development of cysts. Dural ectasia doesn’t always cause issues but some people with it experience back, abdominal and leg pain aswell as headaches. Most cases of dural ectasia are in the lower back (lumbar region) but it is possible for it to occur higher up the spinal column.
A less common complication is ‘Protusio acetabulum’ a malformation of the socket part of the hip joint. This can cause mobility problems and other issues, people with this malformation often need early hip surgeries at a young age.
Living with any of these symptoms can be exhausting but combine a few of them and chronic fatigue can become an issue. Pacing is a great way to maximise your energy levels. Sleep Hygiene can help by promoting restful sleep.
The combination of pain, fatigue and joint problems can have a drastic impact on mobility so some people with Marfan use mobility aids to help them get around, for those with severe mobility impairments wheelchairs can help make life accessible again.
For those who are more severely limited by their condition it can be difficult to form and maintain relationships but that doesn’t mean it is possible. This isn’t just in terms of personal relationships either, forming good working relationships with healthcare providers is essential.
Hopefully this is enough information to explain the basics of what Marfan is and how to live with it. For more information check out the Hypermobility Syndromes Association.
As always, questions and comments are welcome