Marfan syndrome is a genetic disorder, provoked by an abnormal gene, FBN1, which affects the connective tissue of the body. Connective tissue is the one that keeps the cells of the body, organs, and other tissues together. It is also important in the growth and development of the person.
As in other genetic diseases, it is hereditary, in 3 out of 4 cases it is inherited from an affected parent. Marfan syndrome affects boys and girls alike, and there is no predominance of races or ethnic groups.
Causes and Symptoms of Marfan Syndrome
The FBN1 gene is the one that helps a protein to turn into connective tissue, called fibrillin. When this gene is abnormal, Marfan’s symptom occurs, which can come from heredity (one of the parents already had this syndrome) or from a new mutation. Researchers believe that the latter case most often occurs when the father is older than 45 years.
Children with Marfan syndrome may have many different symptoms, because the syndrome can affect the heart and blood vessels, bones and joints, eyes. Some of the most common symptoms are:
- Eye problems. Subluxation of the lens is usually the first ocular manifestation detected by pediatricians. Others are myopia, glaucoma, or premature cataracts
- Joint hyperlaxity: greater flexibility in the joints.
- Overcrowding of teeth
- Chest with abnormal shape
- Spontaneous pneumothorax or collapsed lung
- High, thin body. Long arms, legs and fingers, spider-shaped.
- Scoliosis or kyphoscoliosis that are alterations in the curvature of the spine.
- Poor healing of wounds or scars on the skin
The fact that these symptoms are so similar to other health problems, causes their diagnosis to be delayed. It is currently estimated that 1 in 5,000 children suffer from it, which makes it one of the most common rare diseases.
What is the treatment for this syndrome
Treatment will come after a thorough examination, and will depend on the severity, symptoms, age of the boy or girl, and the general state of health. At the moment there is no cure, but a treatment is indicated according to the organs it affects. Constant and periodic review is essential for this. It is recommended, as in other health issues, to avoid situations of physical or emotional stress and intense exercises, or contact sports are not advised.
In many cases heart problems that children with Marfan syndrome have are treated with medication, or surgery. At the time, a transplant may be necessary. Bone and joint problems are also treated with physical therapy exercises, braces, therapy, or surgery. Eye problems are treated with an ophthalmologist specialist.
At this time, different associations and scientists are working for an early diagnosis, so that when detected earlier, treatment can be started as soon as possible, thus achieving a better prognosis. Life expectancy of patients with Marfan syndrome has increased significantly from 45 to 72 years.
Supports for families with Marfan syndrome
In Spain the SIMA association provides information and advice to individuals and families affected by Marfan syndrome. Thanks to this Association, people affected by the disease were found and met throughout the Spanish geography. Currently there are Medical Reference Units in Barcelona, Madrid and Malaga.
They have their own website, and Youtube channel through which a series of recommendations are made, promote meetings and other activities. In addition to extensive documentation and direct contact for those who want to know more about the disease.
The fact is that, at present, different characters have recognized that they have this syndrome, which helps to give visibility. Some of these characters are basketball player Isaiah Austin, Spanish actor Javier Botet, Argentine musician Carca or the lead singer and guitarist of the group Deerhunter, Bradford Cox.