What is Marfan syndrome?

What is Marfan syndrome?
What is Marfan syndrome?

Discovered more than a century ago, Marfan syndrome is a rare genetic disease that affects the body’s “support” tissues. This disease, which affects all organs of the human body, presents very variable degrees of clinical manifestations.

A rare genetic connective tissue disease

Taken as a whole, rare diseases affect 5 to 6% of the population and approximately 80% of them have a genetic origin. Some more particularly affect the vessels such as Rendu-Osler-Weber disease, vascular Ehlers-Danlos syndrome or even Marfan syndrome, detailed in a publication from the Center for Malformations and Rare Vascular Diseases in Lausanne (Switzerland).

With a prevalence of one in 3,000 to 5,000 people, Marfan syndrome is a rare hereditary genetic disease of connective tissue, that is, the “support” tissue that binds, distinguishes or supports different types of tissues and organs in the human body. The syndrome appears following insufficient production of fibrillin, a protein that makes up connective tissue. However, this insufficiency is linked to a mutation in the fibrillin-1 (FBN1) gene which sometimes occurs at birth. at chromosome 15.

The disease was discovered in 1986 by the French pediatrician Antoine Marfan in a five-year-old child from dolichostenomelia, a physical deformation of congenital origin of the four limbs. She most often affects the vesselsbut can also impact the heart, lungs, skeleton and even the eyes.

Symptoms, detection and treatment of Marfan syndrome

In fact, people with Marfan syndrome present a progressive expansion of the aorta, the most important artery in the body, with a risk of tearing. Let us also mention insufficiency of the heart valves, for example myxomatous degeneration of the aortic valve (see image at the beginning of the article), ophthalmic complications or even the appearance of signs on the skin (stretch marks). Patients may also be subject to skeletal damage which sometimes manifests as tall stature, hypermobility of the joints or, as shown in the image below, deformity of the anterior chest wall.

Credits: Aurora Bakalli / Wikipedia

With correct care, patients can expect a life expectancy similar to that of the rest of the population. Screening and vascular monitoring of the disease are assured thanks to the Doppler ultrasound examination, a medical imaging technique that uses ultrasound. Treatment consists of prescribing a beta blocker, a medication that blocks the action of certain hormones such as adrenaline. This has the effect of slow down and strengthen heart contractions and thus reduce the pressure on the arterial wall as much as possible.

More details can be found in a brochure from the Center for Malformations and Rare Vascular Diseases in Lausanne. The document explains in particular that those affected can continue to regularly engage in physical activity. On the other hand, major muscular efforts are strongly discouraged (e.g.: bodybuilding), activities that involve acceleration/deceleration (e.g.: tennis or handball) or contact sports or sports involving a risk of falling (e.g.: boxing, rugby, etc.).

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