We have 96404 connective tissues in our body, found in the joints, the rib cage, the heart and many more imperative organs. They are fibres that play a vital role in supporting, protecting and giving structure to other tissues and organs in our body as we grow, and when you have a genetic disorder your connective tissue lacks strength because of its unusual chemical makeup.
1 in 5,000 people in the world have Marfan’s syndrome, let’s explore how this genetic mutation affects your health.
What is a genetic disorder?
A genetic disorder is when there is a slight change in the base sequences of your DNA, as we know, the proteins in our body are made from this DNA code therefore when it is changed the wrong type of proteins are created. The protein that plays a role in Marfan syndrome is called fibrillin-1, a change in its code increases a protein called transforming growth factor-beta or TGF-β (tissue growth factor - a key in signalling and regulatory molecule involved in different biological processes ) affecting the connective tissues in the body.
Who is susceptible?
As mentioned above, this disease is genetically inherited, and the probability of a child inheriting this disorder is 50%! Marfan Syndrome is proven to equally occur between men and women through all racial groups too.
What are the symptoms?
The peculiar thing about Marfan Syndrome is that you are born with the disease, although you do not show any symptoms at first. The calculated median age during diagnosis was 19 years old, however, signs from birth such as aortic enlargement can be detected. Marfan"s syndrome needs a close look to be detected otherwise it will be fatal as Marfan's syndrome is degenerative.
Easy to see signs:
The most visible organs that are affected by Marfan’s syndrome are the skin and the bones. The joints may be too flexible, your chest may stick out or in or you may have an abnormal curvature of your spine (scoliosis or kyphosis). Next, there may be swelling of the sac around the spinal column (dural ectasia) and stretch marks due to abnormal height or weight gain or loss that are rather common.
Harder to see signs:
These are the ones slowly affecting you internally and often go undetected. Connective tissue is found all over our body therefore numerous organs are deeply affected by this genetic disorder, but the most common organs that are damaged are the heart, the eyes, the lungs, the skin and the bones.
As we know, the genetic mutation causes a change in the connective tissues in our body, which leads to the blood vessels and heart weakening as the connective tissue is no longer strong enough to support it (This is a serious issue as the aorta is the main carrier of oxygenated blood to your body). Marfan's syndrome can lead to an Aortic Aneurysm, Aortic Dissection, Valve malformations or Cardiomyopathy.
Aortic Aneurysms: An aneurysm is when the pressure creates a bulge in the blood vessel due to the weakness of the blood vessel walls, so a person with Marfans Syndrome would have a bulge at the aortic root (the point where the aorta leaves the heart)
Aortic Dissection: Our aorta consists of 3 layers, and when there is a cut in the inner layers ( due to high blood pressure, weak walls or aortic valve defect), you will experience immense pain, and less than half of the people with an Aortic Dissection survive.
Valve Malformations: Valves are membranous structures in a hollow organ or passage, that fold or close to prevent the return flow of the fluid passing through it. Due to the genetic mutation, these valves, especially the mitral valves (bicuspid valve), stretch/bulge and allow the backflow of blood as they don't close properly, as a result, the heart works harder to counterbalance this. It's important to note that due to weakened connective tissues, the heart also has to work harder to push out blood with enough pressure as it is ( Cardiomyopathy )
The lungs:
Lung Collapse: this is a rare condition also known as pneumothorax, it's when air enters the chest cavity only to create pressure against the walls of the lungs causing it to collapse. It is a life-threatening condition that is detected from chest pain and shortness of breath
Emphysema: this is the gradual damage of the lung tissue and alveoli (air sacs in the lungs) preventing efficient gas exchange
Sleep apnea: A potentially serious sleep disorder as it happens as you sleep while you barely notice it. This is when you repeatedly stop breathing during sleep and cause loud snoring and daytime tiredness even after sufficient sleep.
The eyes:
Some signs of Marfan’s syndrome are eye complications. The outer layer of the eye is the dense connective tissue for protection and structural maintenance. Consequently complications such as ectopia lentis (lens dislocation), Retinal Problems such as detachment or tearing and even early-onset glaucoma(causes the pressure within the eye to increase, which can damage the optic nerve) or cataracts (cloudy areas in the eye's normally clear lens).
Lastly, pregnancy with Marfan’s Syndrome is a huge challenge. During pregnancy, your heart beats for two, and with an already weakened and under stress heart, pregnancy can cause it to overwork and result in a rupture.
Diagnosis and treatment
Marfan’s syndrome requires immense amounts of tests and analysis to diagnose as it affects many organs and is quite similar to other disorders such as Vascular Ehlers-Danlos syndrome and Stickler syndrome. Some tools for diagnosis are positive and negative family history tests and a systematic feature scoring table.
According to the diagnosis made and the issues the patient is facing, a specific treatment is prescribed. Say a patient has an aortic dissection and scoliosis, the treatment plan would be to give β-blocker or losartan that lower blood pressure and surgeries for aorta and valve repair using grafts would be performed. Chiropractic therapy (spinal manipulation, to improve spinal motion and improve your body's physical function) and surgeries can treat scoliosis.
Marfan’s syndrome is a rare but perilous disorder. Aortic dissections have low survival rates, and ocular and musculoskeletal complications need special long term care. Early detection and treatment are highly recommended as they can save the lives of generations in a family.
Written by: Sakshi Deshpande
Edited by: Svasti Tewari
Citations:
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