There are many features and a number of related symptoms found in MFS. These include:

  • Abnormalities of the skeleton and joints,
  • Defects of the heart and aorta that may be life-threatening,
  • Problems with the eyes,
  • Long term breathing issues, or sudden collapse of the lung,
  • Neurological problems in the legs, and
  • Stretch marks throughout the body, like those seen in EDS.

A diagnosis of MFS requires that very specific things are present. These include heart and blood vessel problems, and / or eye lens problems.

The musculoskeletal, lung, and skin signs and symptoms are important clues that might suggest the diagnosis of MFS, but alone they are not enough to make a diagnosis. An identifiable genetic abnormality may or may not be present.

In 2010 experts in the field of MFS from around the world published a revision of the criteria for diagnosing the condition. This is called the Revised Ghent Nosology. A web link and academic reference is provided at the end of this article.

A doctor must consider all these things before making a diagnosis of MFS and considering treatment, and will need to undertake several tests as well as record a detailed medical history and physical examination.

There is no cure for MFS. Treatment is based on managing the symptoms and reducing the risk of developing complications. Less than 50 years ago some individuals with MFS died in their 30s-40s, and mainly because of complications in their heart and aorta (see later). Now, medical treatments are so much better at preventing such problems, and surgical treatments at correcting such problems, that people with MFS have a far better quality of life and live to beyond their 70s.

Because of its complexity individuals with MFS may require a multi-disciplinary team to manage their care. This team might include the GP, Cardiologist, Ophthalmologist, Geneticist, Rheumatologist and/or Orthopaedic Surgeon, and allied health professionals such as a Physiotherapist and Occupational Therapist.

(Review date August 2019)

If you would like the clinical references for the information used in this article, please contact us via the Information Standards Enquiry from.