Live Life Team
Marfan syndrome is a relatively rare genetic condition which affects the body’s connective tissues. It is a hereditary disorder and has 50% chances of occurring in a child with affected parents.
It is the most common connective tissue disorder. Connective tissues help in providing support and structure to organs and other tissues. Marfan syndrome can impact different areas like blood vessels, eyes, heart and the skeletal system. The condition is incurable, the available treatments can only resolve symptoms and improve life expectancy.
Symptoms
Since the connective tissue has wide spread in the body, the Marfan syndrome can also affect many body parts including heart, blood vessels, skeleton and eyes. The severity of symptoms varies from person to person. 10% of affected people are seriously affected and normally, these get adverse with passing age.
Skeleton – There are certain physical features seen in affected people – they are tall, thin-frame, have long & thin arms and legs and loose, flexible joints. The other physical symptoms include deep set eyes, concave or convex shaped breastbone, flat feet, small lower jaw, crowded teeth and high, arched palate.
Scoliosis – this refers to the curving of the spine, another symptom of Marfan syndrome. This can cause severe back pain, difficulty in breathing, pressing of spine against the heart and lungs.
Spondylolisthesis – This is a common condition occurring in Marfan syndrome, causes slipping of one vertebra over another, especially in the lower part of the spine. It also causes stiffness and pain in back.
Dural ectasia – weakening and expanding of the membrane lining (called dura) of the brain and spinal cord, which presses on the vertebrae in lower back causing headache, backache and numbness or pain in legs.
Eyes – vision problems come with Marfan syndrome and impact eyesight, these include
Lens dislocation – when the eye lens shifts to an abnormal position
Myopia or short-sightedness
Cataract – blurring of eye lens
Glaucoma – increases pressure on eyeball, can cause irreparable vision loss
Detachment, or tears in the retina.
Heart and blood vessels – Marfan syndrome causes weakening of the walls of the aorta, main artery which carries blood away from the heart to the chest and abdomen. This is referred as aortic aneurysm. The aorta becomes enlarged and bulges out and can even tear or rupture in severe cases, causing internal bleeding. These symptoms are potentially fatal and needs prompt diagnosis and treatment.
Stretch marks – this is common in people suffering from the disorder, because of weak tissues and less flexible skin. These appear on shoulders, lower back and hips.
Causes
The connective tissue is strong and resilient tissue made of proteins like elastin, fibrillin and collagen, and helps maintaining the body structure and providing support to other organs and tissues. In Marfan syndrome, the gene responsible for making fibrillin protein is defective as a result there is shortage of this protein in the body. The function of fibrillin is to give elasticity, to flex and move, and strength to the connective tissues so the organs can be supported.
Normally, fibrillin is present in abundance in bones, aorta and eye tissues. So when fibrillin is short, these parts of body lack elasticity and can stretch abnormally when under pressure. Another impact is on bones of limbs, which stretch to become longer and leaner, thus giving a tall and lean look to the affected person.
Marfan syndrome is an autosomal dominant condition, meaning that, even if only one parent has the faulty fibrillin gene, the child has 50% chances of developing the disorder. About 25%cases of Marfan syndrome do not have a parent affected by the condition, reason being, mutation of the fibrillin gene in the egg or sperm of the parent. Although the parent does not develop the condition, the mutated gene gets passed on to the child.
