Marfan Syndrome: Know the symptoms – save a life

Dr Anne Child f the Marfan Trust“By my calculations, there are 9,000 people in the UK who are unaware that they have Marfan Syndrome – if left undetected up to 1/3 of whom may not live beyond adulthood.”

Dr. Anne Child, Medical Director of The Marfan TrustThe official figures show that 1:5,000 people potentially have Marfan Syndrome, yet through the incredible work of The Marfan Trust, led by their Medical Director Dr. Anne Childs, it has become apparent that these statistics are inaccurate.Dr Anne Child St. Georges Hospital

The actual figure is believed to be 1:3,000 people, which means that in the UK alone, there are potentially 9,000 who are unaware that they have Marfan Syndrome.

Although Marfan Syndrome is hereditary, 25% of new cases do NOT have any immediate family connections – and it is these people who are most at risk.

This is the exact situation Lucy Morris was in and why it took so long to diagnose her. There will be other girls and boys (as well as adults) throughout the UK in exactly the same situation as Lucy – we have to do as much as we can to connect these individuals with The Marfan Trust.

The hidden dangers of Marfan Syndrome

Marfan Syndrome has several ‘visual’ symptoms (detailed below), which can be extremely helpful in helping to identify those who may be at risk.

However, the real dangers of Marfan Syndrome cannot be seen and are often undetected.

The main reason The Marfan Trust need to identify those at risk is because they may have an enlarged aorta, which is the main blood vessel that carries blood from the heart (aortic dilation).

If left untreated this can lead to fatal heart conditions.

People with Marfan Syndrome often state that they had no prior symptoms to help them identify that they had a heart condition. Lucy, who inspired the Driven at Heart Challenge, had felt ‘fluttering’ in her heart, but thought that was just normal.

This is why it is so important to know the following (more visual) symptoms…

Some of the most common and easily to spot symptoms are the following:

Bones and Joints (Skeletal system)

  • Long arms and legs
  • Tall and thin body type
  • Curvature of the spine (scoliosis or kyphosis)
  • Chest sinks in (pectus excavatum) or sticks out/pigeon breast (pectus carinatum)
  • Long, thin fingers
  • Flexible joints
  • Flat feet
  • Teeth that are too crowded

Eyes (Ocular system)

  • Severe nearsightedness (myopia)
  • Dislocated lens of the eye
  • Detached retina
  • Early glaucoma
  • Early cataracts
  • Other Body Systems

Stretch marks on the skin, not explained by pregnancy or weight gain
Do I have Marfan Syndrome if I have any of the above characteristics?

No – it simply means that you could be at risk.

The important thing to do is get tested for Marfan Syndrome – and you can do this by contacting The Marfan Trust. The Trust has informed us that they’d much prefer to test someone who even has the slightest concerns, rather than not know.

The Marfan Trust – Telephone: 020 8725 1189

As we mentioned at the beginning of this article – there are 9,000 people in the UK who are potentially at risk from life-threatening heart conditions. By launching the Driven at Heart campaign, we hope to spread awareness about Marfan Syndrome and try to reach some of these people.

Article from Driven at Heart

The Marfan Trust

What They do

marfan trustOur research work covers the whole of the United Kingdom and the Marfan Trust is the only charity in the UK that primarily supports research into Marfan syndrome.The main objective of the Trust is to support medical research so that more is known about Marfan syndrome and its severity. The results of our internationally recognised research enable doctors and surgeons to provide better treatment for patients in the short and long term.

Suggestions for research projects come from patients who voice concerns about ageing early, planning to have normal children, wishing for a cure, wanting early diagnosis.

Every clinic patient may be asked to volunteer for ongoing projects which directly benefit them. Research results are communicated directly to patient and physician in charge.

The Trust has funded setting up of the Sonalee laboratory in which Marfan gene mutations provide the basis for correct diagnosis. It is a nationally and internationally recognised referral centre of excellence for Marfan syndrome diagnosis and management, with 3,000 UK families on a research database.

Educational literature and pamphlets have been provided for medical and lay audiences worldwide by our Research Group.

All their Trustees are either affected or have a close family member who is affected. The Trustees prioritise the research projects and decide which ones to fund.

Info about and from the Marfan Trust