MARFAN SYNDROME

Marfan syndrome is a genetic disorder that affects one in 3,000 to 5,000 people.[3] It can occur in both men and women, regardless of race, and its manifestations can vary from person to person. Continue reading to learn more about this disease, its causes and symptoms, and how it can be treated!  

What is Marfan Syndrome?

Marfan Syndrome is a genetic disease that affects the connective tissue, which is responsible for maintaining the body's structure, supporting all organs and tissues. For this reason, Marfan Syndrome affects several systems of the body, especially the skeletal system (bones, ligaments, and cartilages), the cardiovascular system (heart and blood vessels), the ocular system (eyes), and the pulmonary system (lungs).[1][3]

Causes of Marfan Syndrome

Marfan Syndrome is caused by mutations in the FBN1 gene. This gene is responsible for producing fibrillin-1, a protein essential for the integrity and proper functioning of connective tissue. Fibrillin-1 contributes to the strength and elasticity of connective tissue, playing a vital role in the structure and functioning of organs such as the heart, eyes, blood vessels, and skeletal system. Mutations in the FBN1 gene can lead to insufficient production of fibrillin-1 or the formation of an abnormal version of this protein, which can weaken and damage connective tissue throughout the body.[1]

How is Marfan Syndrome transmitted?

In most cases, Marfan Syndrome in children occurs because it is inherited from an affected parent - each child of a parent with Marfan Syndrome has a 50% chance of inheriting the genetic mutation. However, in about 25% of Marfan Syndrome cases, the FBN1 gene mutation occurs spontaneously, without either parent having this disorder.

Marfan Syndrome is present from birth, but diagnosing it can be difficult, as signs and symptoms can vary significantly from one person to another and may only become evident as the person grows and develops. In many cases, Marfan Syndrome is diagnosed only in adolescence or even in adulthood.[2]

Symptoms of Marfan Syndrome

As mentioned above, in the case of Marfan Syndrome, symptoms can vary considerably from one person to another. Even among members of the same family, the way the disease manifests can be different.[2][3]

Marfan Syndrome and physical appearance

The most visible characteristics of Marfan Syndrome concern the physical appearance of the affected person. People with this condition often have a long and narrow face, are usually taller than average, and may have long and slender limbs. The fingers and toes can also be long and slender, with hyperextensible joints that can bend more than normal.[2][3] Other physical characteristics may include:

• small lower jaw;
• arched palate;
• eyes set deep in the orbits;
• flat feet;
• abnormal sternum (protruding or indented); 
• crowded teeth;
• scoliosis.[1]

Marfan Syndrome and the ocular system

Many people with Marfan Syndrome have vision problems. Lens dislocation, for example, affects half of all people with the syndrome. Other possible eye-related symptoms include myopia, glaucoma, cataracts, and retinal detachment.[1][2]

Marfan Syndrome and the cardiovascular system

Approximately 90% of people with Marfan Syndrome develop lesions in the heart and blood vessels. These can include aortic dilation and aneurysm, aortic dissection, problems with heart valves, cardiomegaly (enlarged heart), cardiac rhythm disorders, or cerebral aneurysms.[2]

Marfan Syndrome and the pulmonary system

Marfan Syndrome increases the risk of asthma, emphysema, chronic obstructive pulmonary disease, bronchitis, pneumonia, or pneumothorax.[1]

Marfan Syndrome and the skin

The skin may become less elastic, leading to the appearance of stretch marks, even without weight changes. They particularly appear in areas such as the shoulders, hips, and lower back area. Besides the aesthetic aspect, they pose no risk, meaning they do not require any treatment.[1]

Treatment options for Marfan Syndrome

Marfan Syndrome cannot be cured. Treatment focuses on preventing and managing complications associated with the disease. Depending on the severity of symptoms and the affected body system, different treatment approaches may be used.[1][2]

Medication treatment

One of the most common medical treatments for Marfan Syndrome involves prescribing medications to lower blood pressure. These can help prevent aortic dilation and reduce the risk of dissection and rupture of the aorta. Anti-inflammatory drugs and pain relievers may also be prescribed to manage symptoms.[1][2]

Surgical treatment

Some people with Marfan Syndrome may need surgery to correct problems or complications that may arise. Such surgical interventions can be orthopedic (operations to correct more serious skeletal and sternum problems) or cardiovascular (to correct problems with the heart or blood vessels). Surgery can also be used to treat more severe ocular problems.[1][2]

Other treatment options

• Depending on the vision problems that occur, these may be corrected with glasses or contact lenses.
• To correct scoliosis and prevent its worsening, wearing a brace may be recommended.
• Physiotherapy and kinesiotherapy are other treatment options. With the help of physical exercises, massage, and other therapy methods and techniques, an improvement in flexibility, mobility, and muscle strength can be achieved. However, a personalized rehabilitation program is necessary, depending on the severity of the condition, specific symptoms, and individual needs and goals.[1][2]  

Marfan Syndrome is a rare genetic disorder that can affect many organs and systems of the body. There is no cure for Marfan Syndrome, but there are treatments available to manage symptoms and reduce the risk of complications. It is important to be diagnosed as soon as possible, so if you notice any potential warning sign or there are risk factors for this disease, consult a doctor!

References:

1. „Marfan Syndrome”, NHS, 2024. Accessed 15 Feb. 2024.
2. „Marfan Syndrome: Causes, Symptoms, Diagnosis & Treatments”, Cleveland Clinic, 2022. Accessed 15 Feb. 2024.
3. Salik, Irim, and Prashanth Rawla. „Marfan Syndrome”, StatPearls Publishing, 23 Jan. 2023. Accessed 15 Feb. 2024.