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CONTENTS, ENGLISH, General, GENETICS

Marfan syndrome: how to live of a rare disease

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What they have in common the American president Abraham Lincoln, the Greek painter El Greco or the Spanish actor Javier Botet? All of them had or have Marfan syndrome. This is included within rare diseases (less of 1 case per 2,000 inhabitants). In this article I will explain what happens to people who suffer Marfan syndrome, and also one example of people affected and how he has taken advantage of his syndrome.

WHAT IS MARFAN SYNDROME?

Marfan syndrome is a rare disease of the connective tissue, it means the tissue that spreads throughout the body and its mission is to join the tissues, fill the gaps between organs…The connective tissue is found in all the body, and the Marfan syndrome’s patients have various problems in multiple organs (bones, eyes, heart, blood vessels, nervous system, skin and lungs).

Its name comes from the French doctor Bernard Jean Antoine Marfan that, in 1896, detected the case of a 5-year-old girl who had disproportionate long arms in relation to her body and finger very thin and long.

It is included within rare diseases because it affects 1 in 5,000 people. A rare disease is one that affects a small number of people compared to the general population.

WHAT ARE THE FEATURES THAT CHARACTERIZE THEM?

The clinical features can be grouped mainly in skeletal system, cardiovascular system and ocular system.

The characteristics of the skeletal system are the most visual and among them we find (Figure 1):

  • Dolichostenomelia: disproportionality long extremities in comparison with the length of the trunk. It implies that people are taller than would be expected from their genetic background.
  • Arachnodactyly: thin and long fingers, like spider’s legs.
  • A high, arched palate and crowded teeth.
  • Scoliosis: an abnormally curved spine (S or C).
  • A breastbone that protrudes outward (pectus carinatum) or dips inward (pectus excavatum).
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Figure 1. A Marfan syndrome’s boy, where we can see pectus excavatum, dolichostenomelia and arachnodactyly (Source: National Marfan Foundation)

The features of cardiovascular system are the main source of morbidity and early mortality. Dilatation of aortic artery is the most common and serious, but also we find tear and rupture of the aorta, mitral or tricuspid valve prolapse…

Finally, within ocular system we have ectopia lentis (a displacement or malposition of the eye’s crystalline lens from its normal location) or myopia. There is also a high risk of retinal detachment, glaucoma and early onset of cataracts.

WHICH IS THE ROLE OF GENETICS?

Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin (FBN1), an essential component of connective tissue that contributes to its strength and elasticity. This gene is located in chromosome 15 and the severity of the disease depends on the affected part. It means that there aren’t two identical types of Marfan. There are some people who have physical traits more pronounced, and this facilitates the diagnosis. But there are other people that who do not show outward signs.

It has an autosomal dominant inheritance; it means that an altered allele is dominant over the normal allele and it only needs a copy for expressing the disease. It appears in all generations and a child of an affected parent has a 50% probability of suffering this syndrome. However, it can also occur by de novo mutations in the gene FBN1 (spontaneous mutations). The probability of these mutations is low and it is presented in 25% of all cases of Marfan syndrome.

HOW IS MARFAN SYNDROME TREATED?

As in most rare diseases there is no treatment, but it can alleviate pain and symptoms caused by the syndrome.

Complications have to anticipate and prevent. The treatment is to act on the cardiovascular effects, mainly to avoid the risk of dilating the aorta.

Doctors do regular cardiological tests, repair or replace large vessels, replace of heart valve, do rehabilitation and orthopedic tests to minimize scoliosis and avoid contact sport.

HOW CAN YOU LIVE OF MARFAN SYNDROME?

Throughout history many famous personalities have suffered Marfan syndrome. The tendency of painting elongated humans of Dómenikos Theotokópoulos “El Greco” was due to Marfan syndrome. But it is not the only case known, the musician Niccolò Paganini or the member of the band The Ramones, Joe Ramone, also had it.

Depending on the genetic disease that people suffer, it can be difficult to live with it. But there are some people who have managed to take advantage of it.

This is the case of the Spanish actor Javier Botet. He is known for his role as the Medeiros’ girl in Rec (Jaume Balagueró and Paco Plaza) or mom in Mamá (Andrés Muschietti), among others. His case is complicated, because he has undergone surgery five times. He has taken advantage of his appearance and physical characteristics to characterize diabolic characters (Video 1, not suitable for sensitive people!).

Video 1. Movement test of Javier Botet in Mamá (Source: YouTube)

The example of this guy shows us that we must always see the glass half full and turn the situation around.

REFERENCES

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