What is it?
Marfan syndrome is a genetic disorder that affects approximately 1 in 5,000 people worldwide. It affects the connective tissue that ensures the cohesion of the body and intervenes in body growth. Many parts of the body can be affected: the heart, bones, joints, lungs, nervous system and eyes. The management of symptoms now gives people with life expectancy almost as long as the rest of the population.
Symptoms of Marfan syndrome
Symptoms related to Marfan syndrome vary greatly from person to person and can occur at any age. They are cardiovascular, musculoskeletal, ophthalmological and pulmonary.
Cardiovascular involvement is most frequently characterized by progressive dilatation of the aorta, requiring surgery.
The so-called musculoskeletal disorders concern the bones, the muscles and the ligaments. They give people with Marfan’s syndrome a characteristic appearance: they are tall and thin, have an elongated face and long fingers, and present a deformation of the spine (scoliosis ) and thorax.
Eye disorders such as ectopic lens are common and complications can cause blindness.
Other symptoms occur less frequently: bruising and stretch marks, pneumothorax, ectasia (dilation of the lower part of the envelope protecting the spinal cord), etc.
These symptoms are similar to other connective tissue disorders, making Marfan syndrome sometimes difficult to diagnose.
The origins of the disease
Marfan’s syndrome is caused by a mutation in the FBN1 gene those codes for the production of the fibrillin-1 protein. This plays a major role in the production of connective tissue of the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 available to form fibers that give its strength and flexibility to the connective tissue.
A mutation of the FBN1 gene (15q21) is involved in the vast majority of cases, but other forms of Marfan syndrome are caused by mutations in the TGFBR2 gene.
Risk factors for Marfan syndrome
People with a family history are the most exposed to Marfan syndrome. This syndrome is transmitted from parents to children in an “autosomal dominant ” mode. It follows two things:
- It is enough that one of the parents is a carrier so that his child can contract it;
- A person, male or female, has a 50% risk of transmitting the mutation responsible for the disease to his offspring.
Genetic prenatal diagnosis is possible.
It should not be neglected, however, that the syndrome sometimes results from a new mutation of the FBN1 gene: in 20% of cases according to the Marfan National Reference Center and in about 1 out of 4 cases according to other sources. The affected person has no family history.
Prevention and treatment of Marfan syndrome
To date, we do not know how to cure Marfan’s syndrome. But considerable progress has been made in his diagnosis and treatment of associated symptoms. So much so that the patients have a life expectancy almost equivalent to that of the general population and a good quality of life.
The dilation of the aorta (or aortic aneurysm) is the most common cardiac problem and is the most serious risk for the patient. It requires the use of beta-blocking drugs to regulate the heartbeat and relieve pressure on the artery, as well as rigorous monitoring by annual echocardiograms. Surgery may be required to repair or replace a portion of the aorta that has undergone excessive expansion before tearing.
Surgery can also correct certain ocular abnormalities and skeletal development, such as stabilization of the spine in scoliosis.
