Marfan syndrome is a genetic disorder of connective tissue with a heterogeneous course. The most characteristic features of Marfan syndrome are tall stature, body disproportions, prolapse of the mitral heart valve, and visual defects, including frequent dislocations of the eye lens. However, these are only a few problems that patients with Marfan syndrome have to deal with.

Marfan's syndromeis a rare genetic disorder of the connective tissue (1/2: 10,000). As a result, elastic fibers are damaged and elastin synthesis is disturbed. In the past, the band led to death around the age of thirty. The premature death was caused by numerous organ complications that the medicine of that time could not cope with. Patients with Marfan syndrome, in addition to skeletal abnormalities, must also take into account numerous, sometimes very serious problems from the circulatory system. With the development of cardiology, it is now possible to extend the life expectancy.

The immediate cause of Marfan is a mutation in the fibrillin-1 (FBN1) gene and it is inherited in an autosomal dominant fashion - the chance of inheriting it from the mother or father is 50%. This does not mean, however, that the mutation will not occur spontaneously. In about 25% of cases, the disease appears de novo, i.e. it is not inherited from the parents.

Marfan syndrome - symptoms

The syndrome is characterized by phenotypic variability, which means that patients affected by it differ in their clinical picture. Not all of the features listed below will be present in every patient, but from birth they are characterized by high growth.

The body length of newborns in girls ranges from 49 to 56 centimeters, and in boys from 48.6 to 57.4 centimeters. Adult women on average reach about 175 centimeters (+/- 8.2 cm), and men over 190 (+/- 9 cm). Characteristic for Marfan's syndrome is also the disproportion of build:

  • the arm span is greater than the height of the whole body, and its lower part is visibly longer than the torso
  • dolichocephaly (long head)
  • extremely slim and long, referred to as "spider" fingers (arachnodactyly - the prefix -arachno- taken from the Greek "spider")
  • poorly developed cheeks and improperly small jaw, so the tongue cannot fit in the mouth
  • gothic palate
  • crowding of teeth

Eye defects occur in more than half of those diagnosed with Marfan syndrome. Typical are:

  • frequent dislocations of the lens
  • collapse of the eyeball in the eye socket (enophthalmia)
  • retinal detachment
  • myopia
  • astigmatism

Unfortunately, there is also a greater risk of glaucoma at any age, and cataracts appear earlier than in people without Marfan syndrome.

Marfan syndrome - heart trouble

The most serious consequences of Marfan syndrome are caused by defects in the cardiovascular system that have contributed to premature death in the past. The most common are problems with the valves.

Aortic regurgitation causes blood to flow backwards from the aorta to the left ventricle. This defect does not give any signs for a long time, but eventually shortness of breath, palpitations and pain in its area appear during sleep or after exercise.

In the case of a mild course, medical intervention is not necessary, but in more serious cases conservative or invasive treatment is used. Conservative treatment involves the administration of vasodilating drugs, e.g. nitroglycerin, isosorbide monosate. Invasive treatment, on the other hand, focuses on surgical intervention, during which the damaged valve is replaced with an artificial one.

Mitral regurgitation, like aortic regurgitation, causes abnormal blood flow in the heart, in this case the retrograde blood flow from the left ventricle to the left atrium.

This is manifested by tiredness, shortness of breath, difficulty swallowing, palpitations. Symptoms of this organ failure may also occur. Vasodilating drugs are also administered here. The defect can be operated in several ways:

  • implantation of the Carpentier ring
  • artificial valve prosthesis implantation
  • implantation of a biological valve prosthesis

Mitral valve prolapse, or Barlow's syndrome, causes the mitral valves to move when the heart contracts. They are sometimes bold. This defect is so dangerous that it may not cause major problems, but at the same time it may lead to sudden cardiac death in some patients.

Barlow's syndrome may manifest as:

  • dizziness when standing up
  • fainting
  • with prickling of the heart and palapitation
  • shortness of breath
  • fatigue
  • limb ischemia
  • shaking hands

It is not uncommon to experience insomnia and an increased heart rate. In severe cases, the prolapse of the flap leads to endocarditis, myocardial infarction or transient cerebral ischemia. Pharmacological treatment is based on arginine and beta-blockers; surgical treatment of the replacement of the mitral valve.

Marfan syndrome may also develop hypotension, aortic dilatation, and aortic aneurysms.

Marfan syndrome - digestive system problems

As in other connective tissue diseases, also in Marfan's syndrome there are problems with the gastrointestinal tract. Most often they appear:

  • food malabsorption
  • abnormal bowel movements (constipation, diarrhea, flatulence, abdominal pain)
  • inflammation of the gastric mucosa (which may lead to gastric ulcer)

Marfan syndrome - skeletal defects

The team also suffers from skeletal defects, numerous posture defects, hernias, joint degeneration and joint pain, reduced amount of fat tissue and muscle mass, and skin stretch marks. Starting with the torso:

  • shoemaker's chest (otherwise funnel-shaped, usually found in men; the chest looks sunken)
  • chicken's chest (the sternum is convex)
  • scoliosis and lordosis causing backache, which can lead to persistent headaches
  • spine
  • joint hypermobility that can lead to injuries
  • joint hyperextension
  • flat feet, with feet long, narrow or hollow

Marfan syndrome - problems with the nervous system

There are also ailments from the nervous system, which include chronic fatigue, increased need for sleep and rest, headaches, impaired motor coordination.

It is worth mentioning that anxiety attacks, anxiety and insomnia in Marfan syndrome can be caused by heart defects and disorders within this system.

Marfan syndrome - diagnosis

Based on the abnormalities listed above, Marfan's syndrome is diagnosed, while eliminating other, similar diseases, including:

  • homocystinuria (genetic metabolic disease)
  • Stickler's team
  • Elers-Danlos team
  • Bealsa band
  • myotonic dystrophy (a form of muscle wasting)
  • marfanoid syndromes (with some features of Marfan syndrome)
  • family dislocations of the lens

There are also genetic tests that ultimately determine Marfan syndrome.

Marfan syndrome - treatment

The treatment consists in the prevention and treatment of comorbidities caused by Marfan's syndrome. Vigorous exercise is not recommended for patients, but it has been proven that moderate and reasonably fit keeping fit can prevent cardiovascular complications.

Although the number of symptoms in Marfan syndrome looks overwhelming, it does not necessarily eliminate patients from a normal life. Famous people with Marfan include numerous actors, musicians, the American basketball player and even Abraham Lincoln.

Marfan syndrome: patient stories

School is not adapted to educating children with rare diseases

Mrs.Elżbieta, a 47-year-old woman from Warsaw, does not wear glasses because a year and a half ago she was implanted with artificial lenses. Short haircut, blue eyes.

- I probably inherited the disease from my father, who had heart problems and very poor eyesight - he says. - We lived in a small town in Pomerania and no doctor was able to make a proper diagnosis. When I was a few years old, my eyesight problems started.

The worst was at school. With her glasses (minus 16 diopters), she could see nothing on the blackboard, even from the first bench. - Fortunately, I had the gift of remembering and it helped me in my studies, because the teachers treated me without any concessions. As long as the teacher was talking, I understood everything, when he started to write, I was lost. How many chances have I missed! The daughter is in a better position because her eyesight has changed from minuses to pluses and she can see even from the last bench.

Ms Ala, also with Marfan syndrome, says that her sick teenage daughter, although very talented, had huge problems at school: teachers did not acknowledge her illness, her peers made fun of her thick glasses. Mrs. Ala transferred her daughter to school at the School and Education Center for Blind Children in Laski near Warsaw. - There she finally felt like a full-fledged person, she could learn and develop her abilities.

Most children with Marfan syndrome have similar problems, because modern school, although it talks about integration and helping disabled students, is completely unprepared to cope with these tasks.

Children with Marfan syndrome are often very intelligent

Marek Celiński, 48, must constantly wear glasses because his lenses have been removed. - I noticed my difference in high school. I had a curvature of my spine, a hump, I saw very badly. In primary school for partially sighted children, I had no problems with learning. But in high school my teachers put me in the back seat because I was tall. I didn't even see the blackboard. Then it starteda period of rebellion in my life: I used to play truant, smoked cigarettes and, of course, concealed my back problems, because I absolutely wanted to be equal to my peers, but I couldn't. Books became my way of life. I was devouring a few weeks, I started to be interested in psychology. I have created my own, better world.

- The disease does not affect intellectual performance - says Jan Kawalec, president and co-founder of the Association of Families Suffering from Marfan Syndrome. On the contrary, many patients have great abilities, often artistic predispositions. Teachers do not acknowledge that despite missing lessons, e.g. due to treatments or rehabilitation, a student can learn no worse than his he althy peers, pass high-school diploma, go to university. They often persuade parents to send their child to a special school. They are intolerant and do not react when students make fun of their sick friend. It's high time to change it!

Jan Kawalec advises parents: - Children with Marfan syndrome try to catch up with their peers, they run, jump, force themselves, endangering their he alth and life. Parents do not react because they do not want to hurt the child or tell him that he is weaker. However, they must reasonably explain that someone physically weaker is not inferior to a strong man. I know it's hard but necessary.

Marfan syndrome is an inherited disease

Mrs. Elżbieta has a son and a daughter. Both of them were delivered by caesarean section for the sake of her eyes. 20-year-old Jacek is he althy. 18-year-old Kasia was diagnosed with the disease when she was 2 years old. It started with an eye problem with the subluxation of lenses typical of Marfan's syndrome. Genetic tests and body measurements were carried out.

- I experienced it very hard. I decided to have children, although I knew that I had 50 percent. chances they'll be he althy. I thought a lot about whether I had the right to burden them with my illness. It's like drawing a fate. My son is he althy, and I hoped that would be the case with the next child. I always wanted two, I was hoping for luck. I took a risk, it failed. But I have a wonderful daughter.

Kasia now has plus 15 diopters, and until the 1st grade of elementary school she had minus 12. She can see well, but she wears thick glasses. She has one artificial lens implanted, and surgery on the other eye would be too high a risk for her.

- Fortunately, Kasia is smart and calm about it, just like me. She has a group of friends, she is wise, gifted humanistically, writes novels, is interested in philosophy, Latin, and loves antiquity. I tried to make her believe that she is not worse than others.

Marek Celiński has a different opinion: - I did not decide to have a child because I did not want to make himsuch "gifts" - he says. - But everyone has to decide for himself.

It's hard to pursue with Marfan's syndrome

Ms Elżbieta finished 2-year post-secondary economic studies, but if it weren't for her illness, she would have finished her studies. She worked in the cooperative of the blind as a brush maker - an ungrateful and poorly paid job, but she had no choice. She also took care of blind children. Now she works in one of the Warsaw clinics in an administrative position. He doesn't want to reveal his name.

- Why should people who know me as a "normal" person speculate, feel sorry for me, or think that I am an inferior worker because of my illness. In Poland, this approach to the disabled is unfortunately the norm.

Mrs. Elżbieta has problems with her spine, she is under constant observation of doctors. However, he does not give up active life. - I try to walk a lot, I ride a bike, I can do it recently, after surgery, when I can see well - he explains. - I never wanted to be treated like a poor person needing help. I instill the same attitude into my daughter.

Mr. Marek got married very young, gave up further education and started trading, but due to illness he lost his contacts. His eyesight had deteriorated so much that he was almost feeling in the dark. He worked in a disability cooperative ("slave labor for very little money" - he estimates), he was a messenger in a trading company. Then came other conditions: a dilated aorta that threatened to burst at any moment, constant breathlessness. He had to go on a disability pension. "I was depressed, it was difficult for me to live," he recalls. - But I always tried to cope on my own. I went to group therapy for people with various diseases, it helped.

In 1993, his heart was operated on at the cardiology clinic in Anin. It saved his life, but it did not eliminate his ailments. He has had a cardiac arrhythmia for two years.

Marfan syndrome - does the state support the treatment of the disease?

Patients with Marfan syndrome know that they can count primarily on themselves. - If the parents do not have the power to break through, it is difficult to rehabilitate the child, and it is necessary due to frequent curvatures of the spine - says Elżbieta. - Kasia went for private rehabilitation for some time. One visit costs about PLN 40. She had both feet operated on, which is why she receives a care allowance - about PLN 140. The glasses cost about PLN 600, the refund is symbolic.

Mr. Marek adds: - The most important thing for us is the feeling of security, but the state does not give it to us. Drugs cost a lot. In my case, it is about PLN 200 per month, which is a high amount in the case of a pension. I cannot afford private exercise therapy, I cannot afford free massagesI will not get it, because such are the queues. The National He alth Fund reimburses me the cost of glasses in the amount of … PLN 8, and the cheapest ones cost over PLN 300 and need to be changed quite often. I should already have different glasses, so I buy two pairs at the bazaar and put one on top of the other …

Mr. Marek got a computer as part of the PFRON campaign "Computer for Homer" with a synthetic speech and a magnifying program, but for 2.5 years he has to pay back PLN 107 per month.

There is no center in Poland where patients could obtain comprehensive help. There are no coordinated actions between doctors of particular speci alties: cardiologists, orthopedists, ophthalmologists, geneticists. There is no money for early detection of this disease, rehabilitation and treatment - says Jan Kawalec.

Seek help from the Association of Families Suffering from Marfan Syndrome

Association supporting patients with Marfan syndrome founded in 1995 with his wife Halina, a pediatrician. He is an engineer himself. Their 22-year-old daughter has incomplete Marfan syndrome. During the first four years, doctors failed to make a proper diagnosis.

- Back in the day, many doctors refused to understand that these people not only look different, but are really sick. We want to help by accessing information, facilitating contact with specialists, so that they are well diagnosed, to speed up eye and heart surgeries, orthopedic procedures, and to ensure proper rehabilitation.

The association organizes meetings: lectures on he alth, knowledge exchange, exchange of experiences. He contacts schools, helps students, persuades them to want to learn. He works for various institutions on behalf of the sick. It provides them with information on how to live with the condition. It facilitates the important support of psychologists who help fight depression, a sense of otherness, alienation, and inferiority.

- The sick do not know what help they can get - says Kawalec. - We see poverty in their families, which is why we intervene in poviat family support centers and social welfare centers, when, for example, the father died of an aortic rupture and left several sick children destitute.

Thanks to the association, you can go on a rehabilitation stay, teaching how to deal with your own body. PFRON pays the stays for the camps, and the patient pays PLN 1,350 for 14 days. - Rehabilitation is necessary. Walking is painful and massage would make life easier, but free is virtually unavailable and private is too expensive.

Jan Kawalec appeals: patients should not cut off contact with the association! Support is needed, for example, when a young person wants to start a family and is afraid that the children will be burdened with the disease. This leadsoften to breakdowns, depression. In Pomerania, about 1000 people have permanent contact with the association. Admittedly, I lost money, because I can't do professional work, but I gained socially for it - he laughs.

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Where to go for help

Association of Families Suffering from Marfan Syndrome and Other Genetically Conditioned Diseases "Let's help our children", Gdynia, tel./fax (58) 629-44-25, http: //www.marfan.pl

Category:

Genetic diseases