Marfan Syndrome.

Marfan Syndrome is a genetic condition that affects the body's connective tissues, it is inherited from parent genes meaning that the condition is hereditary. Connective tissue provides the structure and support for organs in the body, it acts as a framework for growth and development by providing sufficient support and strength to cartilage, tendons, heart valves and blood vessels. The symptoms and severity are different for every sufferer.

What causes it then? It is caused by a defect in a genetic code that forms the structure of fibrillin, contributing to the structure of elastic fibres and ultimately connective tissue. As the condition is hereditary sufferers have a 50% chance of passing the disorder on to children. Many of you reading this will probably not have heard of Marfan Syndrome, that is because it is a relatively rare disorder and only affects about 5 people in every 100,000.

The condition affects mainly 5 parts of the body, such as the skeletal system, eyes, cardiovascular system, lungs and central nervous system (CNS).

Visibily the effect on the skeletal system can be seen from a relatively early age, the patient’s arms, legs, fingers and toes may seem out of proportion to the rest of their body, this is knows as Arachnodactyly. In addition their spine may become curved, known as Scoliosis, and the abnormal indentation or protrusion of the sternum may occur, known as Pectus Carinatum. Some people with Marfan Syndrome may have speech disorders resulting from high palates and small jaws, this can relate to the early stages of Osteoarthritis.

The disorder can also seriously affects the eyes and vision. The most common problem for patients is having a lens dislocation, this is where the lens (the transparent structure at the front of your eye) falls into an abnormal position. Sometimes eye problems take time to appear, only after the weakening of the connective tissue that has caused the detachment of the retina. Glaucoma, which is a condition where increased pressure in the eyeball can cause permanent loss of vision if untreated can also stem from Marfans, although this extent of vision loss is extremely rare. Early diagnosis can be detected by an Ophthalmologist or Optometrist using a Slit-lamp Biomicroscope.

The most common visible sign associated with Marfan Syndrome involves the failure of the bodies cardiovascular system. This can lead to unexpected fatigue, shortness of breath and angina all because of inadequate circulation.

The heart’s valves are affected, especially the Mitral valve which becomes weak and flaccid, can not close tighty and affectively, thus allowing blood to leak backward across the valve resulting in a Mitral Valve Prolapse (MVP). Having an MVP increases the workload on the heart and may lead to symptoms such as feeling over-tired, and palpitations of the chest. Over an extended period of time and exposure to MVP the heart muscle may weaken and enlarge, which is known as Cardiomyopathy, which unfortunately leads to heart failure. A similar prolapse can occur to the Aortic Root as it can dilate and become stretched (Aortic Aneurysm) causing a leak, this often presents the patient with pain radiating down the back in an almost tearing sensation. This is a surgical emergency and must be attended to immediately to prevent further damage.

The lungs are also affected in Marfan Syndrome, by the process of Pneumothorax, which is where there is an abnormal collection of air or gas in the chest that separates the lung from the chest wall and may interfere with normal breathing. In the process air escapes from a lung and occupies a the Pleural Cavity (Above the abdominal muscles), causing the lung to become partially collapsed and causes a sharp pain and shortness of breath in the chest of the patient, if not treated it can lead to death.

Biologists know how detrimental the central nervous system (CNS) is to a bodies function and that how if the CNS is affected the body the neurological brain activity can decrease significantly.

Dural Ectasia is the weakening of the connective tissue of the Dural Sac, the membrane that encases the spinal cord. It may cause lower back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function. As Dural Ectasia is not visible on the body if a patient usually has these symptons an X-ray of the lower spine will need to be participated in. If Dural Ectasia is allowed to develop the activity of the CNS can become severely affected.

Regular checkups by a cardiologist are required to monitor the health of the heart valves and the Aortic Root, so that the process of Aortic dilation can be minimised.

Hopefully you can see that the degenerative process of connective tissues causes a large extent of problems within the body with varying severity and different problems for each sufferer. With the continued work of medical researchers and extensive research into the condition hopefully there may be one day a treatment to this condition.