Marfan syndrome is a genetic disorder that affects connective tissue and develops progressively. Connective tissue is found throughout the body and connects the various cells that make up organs, bones, joints, and blood vessels. We could understand it as a glue that binds cells and that in people with this disease, it is weaker than average due to defective production of a protein known as fibrillin, a component of connective tissue. Symptoms can vary between patients, becoming more severe, affecting the heart, skeleton, eyes, and blood vessels. Despite the lack of a cure, it has been possible to control all its symptoms so that the patient increases his life expectancy. At FastlyHealwe inform you about the symptoms, causes and treatment of Marfan syndrome.
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Symptoms of Marfan syndrome
Although the symptoms of Marfan syndrome can vary in each patient, some common traits are shared by most people with this disease.
Some people with Marfan syndrome have eye problems: myopia, glaucoma, cataracts, and retinal detachment. Also, the most common eye condition is lens luxation, which involves a displacement of the lens up, down, or to the sides.
Excessive height, long limbs, and highly mobile joints. They also often have scoliosis and alterations in the chest wall whereby the bone protrudes or bends.
Heart and blood vessels
These are the most severe symptoms in people with Marfan syndrome. These people may suffer from widening the aorta, the artery that carries blood from the heart to the rest of the body. When this happens, and if it is not detected in time, the wall of the aorta can tear, producing a blood leak that, if very large, could even be fatal. Another of the existing problems in this disease involves the heart valves. These can have problems closing correctly, allowing blood to return to the heart.
Causes of Marfan syndrome
The cause behind Marfan syndrome is a defect in the gene located on chromosome 15. This defect leads to the disorder of the average production of fibrillin, the protein that, as we explained, acts in a similar way to glue, joining the cells that make up the organs. In most cases, the defective gene is transmitted genetically from parent to child, with a 50% chance of being transferred. However, neither parent has the disease in other cases, but the genetic mutation occurs spontaneously during conception.
Marfan syndrome diagnosis
The chances of diagnosing Marfan syndrome increase with age. This means that the diagnosis is more complicated in children or young people because the signs that warn of the presence of the disease are not sufficiently evident. Many of the characteristic alterations of the disease develop late, such as dislocation of the lens or dilation of the aorta. Therefore, only about half of patients with Marfan syndrome have symptoms. If the disease is suspected, medical examinations are usually carried out through an echocardiogram and eye examination.
Marfan syndrome treatment
To date, no cure allows Marfan syndrome to be definitively treated. In this case, children and young people must be monitored frequently since they grow and change rapidly, so it will be necessary to perform echocardiograms and eye and bone examinations. This allows anticipating the effects of some of the symptoms, providing an advantage.
On the other hand, it is essential to prevent children from overstressing the heart, so those sports in which there is contact or that require running should be avoided, such as soccer, weight lifting, and others. However, this does not imply the need for them to become sedentary children, but rather that they must learn to be active with a little more care than the rest of the children. Some of the symptoms of Marfan syndrome can be controlled with medication to prevent dilation of the aorta and wear of the blood vessels. Children with eye problems may need glasses or, depending on the condition, require surgery, as in the case of lens displacement. As for back problems, children with scoliosis may require exceptional support or surgery to correct the deviation. Wearing a medical alert bracelet is also recommended if the person is involved in an accident and cannot explain their condition.
In any case, the treatment of the symptoms of Marfan syndrome will depend on the doctor’s opinion.
This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any condition or discomfort.
If you want to read more articles similar to Marfan Syndrome: symptoms, causes, and treatment, we recommend that you enter our Genetic Disorders category.
I am a Surgeon with a diploma in comprehensive ultrasound and surgical care residency, an area I am specializing in. During the exercise of my profession, I have realized the need for patients to know the diseases they suffer, and I can tell you that a large part of their complications is due to a lack of information. Being a health web writer allows me to transmit my experience, without borders, to all those readers eager for knowledge, educate them in the prevention of diseases and promote a healthy lifestyle.