Marfan syndrome

Connective tissue is a type of body tissue with various presentations that is responsible for fixing and supporting the organs of the human body, limiting the compartments of specialized cells that make up tissues and organs, and establishing the space through which The vascular and nervous structures that irrigate and innervate these organs pass through. This fabric is made up of many fibers of greater or lesser elasticity, depending on their function.

How is it produced?

Marfan syndrome was first described by the French doctor Antoine Marfan in 1896. It is a disease that affects one in every 5,000 live births and is inherited in an autosomal dominant manner, that is, it is enough to have the alteration in only one of the two copies of the gene that causes it to manifest the disease.

It has been discovered that the disease occurs as a result of an alteration in the FBN1 gene, located on chromosome 15, and that it encodes the formation of a protein, fibrillin-1, which is part of connective tissue. When there is an alteration in this protein, the fibers that are created are stiffer, they lose elasticity, so that to compensate the fibers they are disproportionately elongated.

In 30% of the cases, it has been seen that the patients do not have a family history and these are sporadic cases due to spontaneous mutations.

• It is an alteration of the connective tissue.
• Those who suffer from the classic form of the syndrome are tall and thin people, with a long lean face, very long limbs and fingers.
• As it is a hereditary disease, it has no treatment, but cardiovascular or ophthalmological alterations that may occur are treated.

Symptoms

There are three forms of Marfan syndrome:

• Neonatal, in which a failure of the tricuspid valve of the heart is detected on the second trimester ultrasound and newborns usually die of heart failure in a short time.
• Infantile, in which there is mostly a dilation of the aorta.
• Classic, the most common, with a more variegated frame.

Individuals with the classic form of Marfan syndrome are tall and thin, more than usual for their age and above the population mean. They have a long, lean face, with a small jaw (micrognathia) and a pointed palate. They have hands with very long and narrow fingers, which is called arachnodactyly. Both arms and legs are extraordinarily long and lax at the joints (except often at the elbows). They have an excavated chest or, conversely, protruding (keel), and are often affected by. They tend to have flat feet with toes that are also exaggeratedly long and lax.

Internally, they can present various cardiac alterations, mainly dilatation of the aorta or prolapse of the mitral valve.

Ophthalmological alterations also occur, such as severe myopia, retinal detachment, and especially lens dislocation.

Sometimes they can suffer one or more radicular pain - which follows the path of a nerve root - due to alterations of the dura, one of the meninges that cover the brain and spinal cord.

It is not associated with mental or learning retardation, but the appearance of patients can impair their ability to socialize.

Diagnosis

The diagnosis is based on the examination of the patient, observing the characteristic features of patients with Marfan syndrome. No analytical alterations will be seen in blood or urine.

An echocardiogram and a vascular imaging study using CT angiography should be performed to assess the possible degree of involvement of both the heart and the aorta.

Likewise, it is important to carry out an exhaustive ophthalmological evaluation to detect possible alterations both in the lens and in the retina.

Sometimes genetic testing is also done to determine fibrillin-1 mutations.

Treatment

It is a syndrome that in itself has no treatment; what is sought is to treat in isolation the possible alterations that patients may present, especially at the cardiovascular and ophthalmological level.

Precautionary measures

As it is a hereditary syndrome, there are no preventive measures. If there is a family history or suffering from the disease, it may be advisable to undergo genetic counseling before having children. WATCH YOUR HEALTH

Having a complete Preventive Medicine program like the one offered by MAPFRE's Health Insurance, aimed at taking care of your health is a great advantage. It consists of consultation, exploration and tests by a specialist who will offer you an assessment of your health and recommendations to take care of yourself.

General Medicine Specialist