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  1. Hypermobility
  2. Types of HMS
  3. Marfan Syndrome

Marfan Syndrome

The three most common structural building blocks that constitute the ‘connective tissues’ are the proteins Collagen,  Fibrillin,  and Elastin. They all have important functions in maintaining elasticity and strength of these tissues. In Marfan syndrome (MFS), there is not enough Fibrillin in the connective tissues.

The biology of this is more complex than it just being about the physical amount of Fibrillin present; it is also about how Fibrillin interacts with another protein called Transforming Growth Factor – Beta and how this influences normal biochemical processes in the connective tissue. When these interactions go wrong the tissues can become weak and fragile. Fibrillin is found mainly in bones, the aorta (main artery) and the eyes. Hence, these are the parts of the body most prone to complications in MFS. The clinical features of MFS vary considerably from person to person, with many people having only mild features. Everyone with MFS is born with the condition, but it may not be obvious before the teenage years (during the growth spurt). To add to the complexity some of the complications may not arise for many years, if indeed they arise at all. Every case has to be managed at an individual level.

If you click HERE you will be taken to the The Marfan Foundation website where there further information regarding Marfan syndrome.

(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.

Marfan Syndrome: Joints, Bones and the Marfanoid habitus

A more detailed look at the musculo skeletal aspects of Marfan syndrome Read more

Published: 25th July, 2019

Updated: 13th September, 2019

Author: Hannah Ensor

Related topics:
  • Marfan
  • scoliosis
  • symptoms
  • MarfanPage
  • marfan syndrome
  • Types of hypermobility syndromes
  • Marfan Syndrome

Marfan Syndrome: an overview of clinical features

An overview of the clinical features of, and diagnostic test for Marfan syndrome, Read more

Published: 25th July, 2019

Updated: 12th September, 2019

Author: Hannah Ensor

Related topics:
  • Marfan
  • diagnositic criteria
  • test
  • MarfanPage
  • marfan syndrome
  • Types of hypermobility syndromes
  • Marfan Syndrome

Marfan Syndrome: The Eyes

How Marfan syndrome can affect the eyes, and what the available treatment and management options are. Read more

Published: 25th July, 2019

Updated: 12th September, 2019

Author: Hannah Ensor

Related topics:
  • Marfan
  • eye
  • lens
  • MarfanPage
  • marfan syndrome
  • Types of hypermobility syndromes
  • Marfan Syndrome

Marfan Syndrome: The Lungs

An overview of how Marfan syndrome can affect the lungs. Read more

Published: 25th July, 2019

Updated: 29th August, 2019

Author: Hannah Ensor

Related topics:
  • Marfan
  • lungs
  • MarfanPage
  • marfan syndrome
  • Marfan Syndrome

Marfan syndrome: Gene and Inheritance

An outline of the genetics of marfan syndrome Read more

Published: 25th July, 2019

Updated: 29th August, 2019

Author: Hannah Ensor

Related topics:
  • MarfanPage
  • Types of hypermobility syndromes
  • Marfan Syndrome

Marfan Syndrome: Heart and Blood vessels

A more detailed look at the problems that can arise in Marfan syndrome relative to the heart and blood vessels, and their management. Read more

Published: 25th July, 2019

Updated: 29th August, 2019

Author: Hannah Ensor

Related topics:
  • aortic aneurism
  • Marfan
  • treatment
  • heart
  • blood
  • MarfanPage
  • marfan syndrome
  • aneurism
  • Types of hypermobility syndromes
  • Marfan Syndrome
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  • "New study confirms systemic nature of hypermobility syndromes, that late diagnosis is common and associated with negative health outcomes."

    This long awaited and eagerly anticipated paper has been published today on BMJ Open. Authors of this study are Joanne C Demmler, Mark D Atkinson, Emma J Reinhold, Ernest Choy, Ronan A Lyons, Sinead T Brophy.

  • What are hypermobility syndromes?

    Hypermobility syndromes is an umbrella term for a number of complex heritable disorders of the connective tissue (HDCTs) which feature among a diverse constellation of symptoms, some hypermobility in some or all of the musculoskeletal system.

  • Victory for Kids and Teens Social Media Volunteer!

    You may have noticed the lack of posts from me again the past few weeks - but I was off fighting a better fight. Kids & teen related of course! 😊

  • Explaining an HMS to friends and family

    A sample letter outlining life with a hypermobility syndrome to help loved ones understand. Written by Kirsty Turner

  • HSD: Symptoms

    A short overview of common symptoms of hypermobility spectrum disorder

  • HSD: Diagnostic Criteria

    The diagnostic criteria for hypermobility spectrum disorder (HSD)

  • Thank you for changing my life

    Podiatrist, Julie, was able diagnose her whole family after coming to one of our talks.

  • About the HMSA

  • Standard Membership

    Standard membership of the HMSA

  • Hormones and Hypermobility

    How various hormones interact with hypermobility, including why symptoms may worsen around menstruation and things to consider regarding hormonal contraceptives.

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