Marfan's Syndrome

What is it?

  • A genetically inherited disease that affects the connective tissues of the body. It is an autosomal dominant condition, so even if only one parent has the gene for Marfan’s, the child can still inherit it. Only around a quarter of cases are completely new spontaneous cases in families.
  • The chemical composition of the connective tissue is not normal, causing problems throughout the body.
  • Causes the joints to be more flexible than they should be and the bones to grow longer and thinner than is usual.
  • It ranges from mild to very severe, depending on the person affected.
  • Is relatively rare, with only one in 5000 people being affected, men and women equally.
  • Caused by a defect in the FBN1 gene coding for fibrillin and elastic fibres, meaning that not enough fibrillin is made in the body, so parts of the body may stretch more than normal.

Symptoms

  • Symptoms mostly in the bones, eyes and cardiovascular system. They tend to get worse with increasing age.
  • Skeletal symptoms include being abnormally tall due to very long limbs with loose joints, overcrowded teeth, a protruding breastbone and a small bottom jaw. It can also cause further conditions such as scoliosis or spondylolisthesis.
  • Eye symptoms include short sight, lens dislocations, retina detachment, glaucoma and cataracts.
  • Cardiovascular symptoms include an enlarged aorta, as it will have weak walls (aortic aneurysm) or a prolapse of some valves such as the mitral valve (leading to blood leakage and therefore inefficient pumping of the blood).
  • Can also find stretch marks due to the weakened tissue underneath being stretched during growth, and lung tissue changes making the lungs more susceptible to problems like asthma.

Diagnosis

  • Symptoms will be compared to the Ghent criteria. This is a list of symptoms that allows a GP to differentiate between this and other similar conditions.
  • Hospital tests like an echocardiogram or an MRI scan can also help to confirm some of the symptoms that cannot be seen, e.g. problems with the aorta.
  • Prenatal testing can be done to determine if a child from a Marfan’s Syndrome parent will also have the condition. This can be done via amniocentesis or chorionic villus sampling.

Treating Marfan's

  • There is no cure currently for this syndrome. There are however treatments to ease the symptoms of the condition.
  • Back braces or surgery to help with scoliosis.
  • Physiotherapy to help develop a wider range of movements.
  • Beta blockers to prevent heart damage.
  • Surgery for concaved chests.
  • Glasses or contact lenses to correct vision problems, and the removal of cataracts.

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