What is Marfan Syndrome?
Marfan Syndrome (‘síndrome de Marfan‘ in Spanish) is a disorder of the connective tissue. It is generally hereditary in nature. As you know, the connective tissues are the fibres that provide a frame to the body. It supports the body and gives it shape. When a person suffers from this disease, the body shape becomes somewhat abnormal. It can affect various body organs like the eyes, heart, skeleton and blood vessels. There is no specific cure for this condition. In some cases, it may even be life-threatening.
History of Marfan Syndrome
The disease first got its name in 1896. A French pediatrician named Antoine Marfan saw the symptoms of this disorder in a five year old girl. He was the first physiological expert to bring this health condition to light. The condition has been named after him.
Marfan Syndrome Symptoms
This particular disease has some unique symptoms. In most cases, these can be found out from a person’s physical features. Here are some of the well known Marfan Syndrome symptoms.
Length of body Parts
Generally, people suffering from this disorder are exceptionally tall. Even those who are not very tall are taller than average people. This is because the condition impacts the skeletal system of the affected persons. People suffering from this disorder also have long limbs. The arms, fingers, legs, toes and the face are long and thin. In medical terms, this disorder is called ‘Dolichostenomelia’.
Picture 1 : Elongated Finger and Arm Bones
Source : drmarzuki
Patients of this syndrome often suffer from skeletal curvature. In many cases, the person has a curved spine. The roof of the mouth is arched. This brings the teeth closer lending a disproportionate appearance to the face. In some people, the ‘sternum’ or breastbone is bulges outward.
Picture 2 : Skeletal Abnormality in Marfan Syndrome
Source : emedicine.medscape
The disorder also affects the eyes. A person with this disease can have one or both his eye lenses located wrongly. The lens may be shifted to a side or located a little higher or lower. The dislocation may be a slight one or it may be more pronounced. This may also have an effect on the sight of the sufferer. The person may be myopic or short-sighted. He or she may also have glaucoma from an early stage of life. There can also be cataract problems resulting in unclear vision.
A person who has this disease may suffer from skin problems. In many cases, the patient has stretch marks on his or her body. A recent weight change can produce stretch marks in your skin. But stretch marks in Marfan Syndrome sufferers can be found even in the absence of a weight alteration.
Picture 3 : Stretch Marks (One of the symptoms of marfans syndrome)
Source : emedicine.medscape
Sufferers of this disorder often have a hernia in their abdomen. It is known as ‘Inguinal hernia’. In such cases, a bulge develops inside the abdomen that contains some intestine parts.
Heart problems are crucial in sufferers of this disorder. The defective connective tissue actually affects the walls of the aorta. The aorta transports blood to the heart from the other body parts. In Marfan persons, the aorta walls are weak. This often leads to ‘aortic dilation’, a condition where the walls of the aorta stretch abnormally. It may lead to the sudden tearing of the aorta or other serious heart problems causing even death.
In Marfan sufferers, the tiny air sacs in their lungs become less flexible. In some cases, the sacs also swell. If not treated in time, this can cause serious life risk.
What causes Marfan Syndrome?
Since the disease was first diagnosed, scientists and researchers have spent hours on it. They have tried hard to discover what are the real causes of Marfan Syndrome. It is now believed that heredity is the prime reason behind the appearance of this condition in a person. The child of a Marfan sufferer has a fifty percent chance of inheriting the disease. The disease may also happen because of a gene abnormality occurring during the formation of the sperms. This can lead to a child developing Marfan Syndrome even without any parent suffering from it.
Marfan Syndrome Treatment and Diagnosis
Marfan Syndrome has no specific cure. Naturally, there are no laboratory tests to discover the presence of the disorder. Generally, a diagnosis of Marfan Syndrome is done by:
Picture 4 : The ‘Thumb and Wrist Sign’ in Marfan Syndrome
Source : gfmer
- Collecting records of the presence of the disease in any parent, family member or ancestor of the patient.
- Physical check-up that mainly focuses on the analysis of the skeletal structure of the sufferer.
- Eye tests, to detect any abnormality in the eye lens or vision of the affected person.
- Heart tests that check the cardiovascular condition of the person. These examinations are carried out to detect the rhythm of heart-beat as well as the size and shape of the aorta. The echocardiogram test is a must for Marfan Syndrome sufferers.
Marfan Syndrome Life Expectancy
Marfan Syndrome is generally not life-threatening. Even in the case of serious abnormalities, timely check-up and proper medication can keep the affected person in good health and lead a normal life. Famous persons like Austin Carlile, Sir John Tavener and Flo Hyman are known to have this condition. But you can see that the disorder has not stood in their way of reaching to the top. Marfan Syndrome is not the end of life. You can lead a happy life even with this disorder.
Written by anirudh
on October 20th, 2010. The article was last updated on September 5th, 2011