Marfan Syndrome: A Rare Connective Tissue Disorder

A Rare Inherited Disorder

Marfan logoMarfan syndrome is a fairly rare genetic disorder that effects the body’s connective tissues, whose purpose is to maintain the structure of the body and support internal organs. Although a rare condition itself, affecting about 1 in 3,000 people, it’s one of the most common connective tissue disorders. Marfan syndrome is hereditary, with about 75% of cases being passed on from one parent and a child has a 50% chance of receiving it. Some people however, do not inherit it: spontaneous mutation is when the individual’s cells mutate on their own.

What Is Marfan Syndrome?

Connective tissue is found through-out the body and is made up of a range of fibres which gives the tissues its elasticity. A protein called fibrillin is part of these elastic fibres, but Marfan syndrome creates an abnormal or deficient version which makes the fibres unusually stretchy and weak. It can make some bones grow abnormally long and be more brittle than usual, while stretch marks are and joint pain are also common occurrences.

Symptoms

Marfan syndrome has an extensive list of symptoms which vary greatly in each individual. Symptoms often don’t surface until the teenage years when characteristics such as being tall and having long, slender limbs can be mistaken for teenage growth spurts.

The syndrome is known to affect the cardiovascular, skeletal and ocular system, with common health problems including dislocated eye lenses, detached retinas, severe myopia, cataracts, aortic dilation or aneurysms, aortic dissection and mitral valve prolapse. A curved spine, flat feet, over flexible joints, a chest that sinks in or sticks out and crowded teeth are also common features.

Diagnosis

Because of the varied symptoms individuals can have, Marfan syndrome can be difficult to diagnose. If you think you or a family member has it, go straight to your doctor who will conduct a thorough family history and physical examination. The physical examination will include listening to the heart, checking for stretch marks and for any physical signs of the syndrome, such as long thin limbs. You may then be referred for some additional tests such as an eye exam, an echocardiogram, chest x-ray or MRI scan to discover any major symptoms such as an enlarged aorta. Genetic testing can be used to identify the Marfan syndrome gene, but due to its ability to mutate in over 1,000 different ways, the test takes a long time to complete and is very expensive. Usually a diagnosis can be made from physical features and symptoms alone.

Treatment

There is currently no cure for Marfan syndrome but treatment can help to manage the symptoms effectively. A number of healthcare professionals such as a geneticist, cardiologist, orthopaedic surgeon, paediatrician and ophthalmologist will usually work together to create a treatment programme based on the individual’s needs.

Marfan Syndrome Support Group Ireland are committed to supporting sufferers and their families, regularly organising fundraising events, awareness campaigns and meet & greet days where sufferers can meet others with the condition.

 

Sources:

http://marfan.ie/index.php?id=2

http://www.nhs.uk/conditions/marfan-syndrome/pages/introduction.aspx

http://www.marfan.org/about/signs