Marfan syndrome is an inheritable disorder that causes abnormalities of the connective tissue. The main function of connective tissue is to hold the entire body together and give the necessary structure for development and growth. Marfan syndrome results in many defects of the connective tissue which prevents it from fulfilling its purpose.
As connective tissue is present across the body, Marfan syndrome can cause irregularities of a number of body systems such as the eyes, the skeleton, the nervous system, lungs, the blood vessels, skin and the heart.
Statistics about Marfan Syndrome
The syndrome can be found in both the genders as well as children. It tends to affects individuals belong to different ethnicities and different races. The rate of incidence for Marfan syndrome in the United States is approximately about 1 in every 5000 individuals.
Marfan Syndrome Symptoms
The signs and symptoms of Marfan syndrome vary from one affected person to another. Some individuals with Marfan syndrome may experience only mild symptoms while others may elicit extreme symptoms.
Some of the body systems that are affected by Marfan syndrome are as follows:
- The eyes: Nearly fifty percent of the individuals affected by Marfan syndrome have mild or severe displacement of the lenses of one or both eyes, wherein they may be relocated to the side, or higher or lower than normal. Retinal detachment is one of the serious complications of Marfan syndrome. Glaucoma, myopia and cataracts are other ocular abnormalities that can be found.
- The skeleton: individuals affected by Marfan syndrome generally have loose joints and are tall and slender. The legs, arms, toes and finders may be comparatively disproportionate to the rest of the body. The mouth’s roof may be arched resulting in jam-packed teeth; the face is narrow and long; the chest is either sunken or elevated; the feet may be flat and spine curvature abnormalities like scoliosis may be present.
- The cardiovascular system: A majority of the individuals affected by Marfan syndrome have cardiac and blood vessel irregularities. Marfan syndrome can result in cardiac abnormalities like aortic dilation which involves weakening and increased stretching of the aortic wall. This can in turn lead to increased vulnerability of aortic rupture or tear and other cardiac problems, and even sudden death. In a few cases, heart murmur may be caused due to leaky cardiac valves. Severe cases of leaky cardiac valves can lead to palpitations, fatigue and shortness of breath.
- The skin: Most of the individuals affected by Marfan syndrome tend to get stretch marks on the skin, regardless of whether they have gained weight or not. Such marks do not cause any complications and can appear at any age. However, Marfan syndrome can also cause inguinal or abdominal hernia.
- The nervous system: The fluid that is present in a membrane known as dura and which surrounds the spinal cord and the brain. The dura tends to stretch and wear, as a person with Marfan syndrome ages. This in turn exerts pressure on the lower spine and weaken the bones present around the spinal cord. This may cause pain, weakness of legs and/or numbness.
- The lungs: The lungs are mostly not affected by Marfan syndrome. In rare cases, the air sacs in the lungs mat stretch and weaken, causing the lung to collapse.
Causes of Marfan Syndrome
Marfan syndrome is caused due to mutation of a gene that is responsible for providing instruction to a protein known as fibrillin-1. This protein is an essential component of connective tissue. Marfan syndrome is a congenital disorder, which may be detected later in life.
In most cases, the mutated gene that causes Marfan syndrome is usually passed on from an affected parent to the child. A parent who has the disorder has a fifty percent chance of passing on the mutated gene to the child.
In rare cases, the mutation of the gene may occur due to random events at the time maternal egg or paternal sperm formation. Around 25 percent of the Marfan syndrome cases are possibly caused due to gene mutations that occur during conception.
It is important to note that the gene develops variable mutations in different individuals affected by Marfan syndrome, which means that the same gene may be mutated to different degrees in different people, resulting in varied symptoms with varied levels of severity.
Marfan Syndrome Treatment
Marfan syndrome has no known cure. The treatment is aimed at reducing the symptoms associated with the condition. The treatments include:
- The eye abnormalities can be corrected by using corrective glasses or in some cases surgery.
- A person with Marfan syndrome has to be regularly monitored for spinal abnormalities so that corrective measures can be immediately undertaken. Other skeletal abnormalities may be corrected via surgery and other medical methods.
- Medications can help alleviate any pain caused due to swelling or inflammation of the dura
- Patients with Marfan syndrome also have to be regularly monitored for cardiac abnormalities and corrective measures have to be taken as per the recommendation of the doctor. Medications and surgery are used to treat conditions of the heart.
- Since the lungs are at an increased risk to developing disorder, individuals with Marfan syndrome should abstain from smoking.
Marfan Syndrome - Life Expectancy
The life expectancy of Marfan Syndrome patients is as much as that of an average individual. The disease may not have cure but it does not stop from a person from living life to the fullest extent with proper medical care and timely checkups. Over the last few decades, there have been many clinical trials underway to find new ways of treating this syndrome.
Marfan Syndrome Pictures