Marfan Trust

Marfan Trust

The Marfan Trust is the only Marfan charity in the UK that funds its own laboratory undertaking medical and analytical research so that more is known about Marfan syndrome and its management. The results of our internationally recognised research enable doctors and surgeons to provide better treatment for patients in the short and long term. Over 18,000 people are affected by Marfan syndrome in the UK, with many more anticipated to be living with the condition undiagnosed. Our important work hopes to improve the treatment of patients and increase awareness of this condition.

The Marfan Trust’s three main objectives are:

  1. To fund medical research projects that aim to aid the diagnosis and treatment of Marfan syndrome patients.
  2. To provide educational literature on Marfan syndrome and all its aspects to the medical profession and the general public, thus raising awareness of the condition.
  3. To provide support and guidance to those affected and their families.

Our website includes information on the medical aspects of Marfan syndrome; advice and guidance on living with Marfan syndrome; updates on our latest research projects and publications and ways to support the Trust’s important work

  • Marfan syndrome is an inherited disorder of the body’s connective tissue that affects men and women of any race or ethnic group

    Marfan syndrome was identified in 1896 by a French physician, Antoine Marfan. The syndrome is an inherited disorder of the body’s connective tissue which predisposes to medical problems affecting the heart, eyes and skeleton, requiring treatment to prevent serious complications.

    Those affected suffer from one or more of the following problems:

    • eyes – dislocation of lenses, short-sightedness, retinal detachment, glaucoma
    • skeleton – excessive height with long limbs and fingers, flat feet, protruding or indented chest bone, loose joints, scoliosis, early osteoarthritis
    • heart – ballooning and potentially fatal tearing of the aorta, backward billowing of the heart’s valves

    Sufferers can live with the first two problems – the last can cause death at an early age unless diagnosed in good time and treated medically and surgically.

    Males and females are affected equally. Each child of an affected parent has a 50% chance of inheriting Marfan syndrome.

    For more general information please read our Guide to Marfan Syndrome.

    Regular Assessment

    Complications can be prevented if patients are seen on a regular basis by their various specialists. Those affected should work closely with physicians for individual care and management. Often your Consultant requires the test results such as X-rays, ECG (Electrocardiogram) Echocardiogram, MRI (Magnetic Resonance Imagining) CT Scan, lung function tests prior to your appointment.

    Assessments may need to be increased as the patient grows older. For more information please read our F&Qs.

    Fitness

    In general it is important for the patient with Marfan syndrome to keep as fit as possible. This improves muscle tone and is good for overall function of the heart and blood vessels, but any exercise should be appropriate to each individual’s physical condition. Some activities are best avoided, such as long distance running and heavy lifting. For more information please read our F&Qs.

    Activity: The person with Marfan syndrome should in general be able to take part in appropriate non-competitive sporting activities but should be allowed to stop whenever tired. Contact sports such as basketball and rugby are best avoided, as are long distance running and heavy weightlifting.

    Fatigue: due to Marfan syndrome, can be a problem, especially when long periods of concentration are required. Learn to “pace yourself”, working within your own comfortable time scales.

    Diet : A balanced healthy diet, rich in vitamins and minerals, encourages the production of connective tissue.

    Smoking: destroys elastin, which is the very protein which is already deficient in anyone who has Marfan syndrome. It also causes complications in surgery and the recovery period. It is therefore best avoided.

    Starting a Family

    Having children is a very personal decision that should be made solely by prospective parents, but only after acknowledging and understanding the potential risks, especially if the female partner is affected. Pre-pregnancy and genetic counselling should, therefore, be undertaken before starting a family. Our FAQs which provide more information on family planning.

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