Marfan syndrome is a genetic disorder that leads to an abnormal development of connective tissue in the body. This syndrome can affect various body systems, with the most obvious effects usually on the bones, eyes, heart and blood vessels. Marfan syndrome is caused specifically by a mutation in the gene for fibrillin-1, a connective tissue protein.
This syndrome is characterized by a variety of physical symptoms, including a tall and thin body, long arms and legs, eye problems, and heart and blood vessel problems. It can lead to serious complications, such as enlargement and weakening of a large blood vessel called the aorta. Marfan syndrome can be passed on genetically and family history is important. Treatment aims to relieve symptoms and prevent complications.
What are the symptoms of Marfan syndrome?
Although Marfan syndrome is usually characterized by long limbs, tall stature and a lean physique, it can affect various parts of the body and symptoms can vary from person to person. Marfan syndrome is usually characterized by the following symptoms:
- Abnormal height and body structure,
- Disproportionately long arms and legs,
- Finger and toe anomalies,
- A long, narrow face and a small chin,
- Collapsed or protruding rib cage,
- A curved or humpbacked spine,
- Hollowness in the eyes,
- Muscle and joint flexibility,
- A high arched palate,
- Crooked or crowded teeth,
- Severe myopia,
- Flat feet
Causes of Marfan Syndrome
Marfan syndrome is caused by an abnormal function of a protein that affects the elasticity and strength of the body's connective tissue. The main cause of this syndrome is a family history of a mother or father with the condition. It is caused by a mutation in the FBN1 (fibrillin-1) gene and can be passed on to the child through genetic transmission. However, in rare cases, some individuals may also have Marfan syndrome due to a new gene mutation.
Marfan Syndrome Risk Factors
The most significant risk factor for Marfan syndrome is that one or both parents have Marfan syndrome. A child who inherits the syndrome from either mother or father has about a 50% chance of being born with Marfan syndrome, a condition called autosomal dominant inheritance. Marfan syndrome can occur in anyone, regardless of gender, age or ethnicity, meaning that everyone is at equal risk.
What are the complications of Marfan syndrome?
Marfan syndrome is a genetic disorder that can lead to various complications due to abnormal development of connective tissue in the body. Complications of Marfan syndrome can include
Heart and Aortic Problems: People with Marfan syndrome have an increased risk of enlargement and weakening of a large blood vessel called the aorta (aortic aneurysm). This can cause the aorta to rupture and potentially life-threatening internal bleeding. The heart valves can also be affected.
Eye Problems: Marfan syndrome can lead to a variety of eye problems, in particular an increased risk of myopia (short-sightedness), astigmatism, lens subluxation and retinal detachment.
Skeletal Problems: Marfan syndrome can cause bone and joint problems. Scoliosis (curvature of the spine), deformities of the long bones, joint hypermobility and pain are common complications.
Skin Problems: Some people with Marfan syndrome may experience loss of skin elasticity, stretch marks (striae) and swelling of the soft tissues.
Respiratory Problems: Breathing problems may occur due to chest deformities.
Flat Feet: Flat soles of the feet (flat feet) can lead to difficulty walking.
Arrhythmias and Heart Failure: Marfan syndrome can cause electrical conduction problems and arrhythmias in the heart. It can also increase the risk of heart failure.
Pregnancy Complications: Women with Marfan syndrome may face aortic problems and other complications during pregnancy.
Eye Lens Dislocation: Dislocation of the lens of the eye can cause vision problems.
Joint Problems: Joint hypermobility can lead to joint pain and injury.
Complications of Marfan syndrome may differ from person to person and vary in severity. Therefore, it is important that people with Marfan syndrome are followed up and treated regularly. Early diagnosis and treatment can help prevent or alleviate complications.
How is Marfan syndrome diagnosed?
Diagnosing Marfan syndrome usually involves a combination of a number of clinical and genetic tests. The following methods can be used to diagnose Marfan syndrome:
Physical Examination: A doctor will assess the patient's physical characteristics and symptoms. Common physical signs in individuals with Marfan syndrome include tall and thin build, long arms and legs, eye symptoms, chest deformities and joint hypermobility.
Eye Examination: The ophthalmologist will look for Marfan syndrome-specific symptoms in the eyes and detect eye problems such as myopia, astigmatism, lens subluxation and iris dislocation.
Cardiovascular Evaluation: Imaging tests such as echocardiography (ultrasound of the heart) and computed tomography (CT) will evaluate the size and structural changes of the aorta.
Genetic Testing: To diagnose Marfan syndrome, genetic tests can be performed to identify mutations in the FBN1 gene. These tests are used in combination with a family history of the disease.
Imaging and Monitoring: Radiologic imaging (for example, magnetic resonance imaging or computed tomography) and regular follow-up may be recommended to assess the presence of aortic aneurysm or other complications.
How is Marfan syndrome treated?
Treatment of Marfan syndrome may vary depending on the severity of symptoms, age, general health and the presence of complications. Treatment is usually aimed at relieving symptoms and preventing or delaying complications. Treatment of Marfan syndrome can take the following forms:
Monitoring and follow-up: People with Marfan syndrome should be monitored regularly by a specialist physician. This includes monitoring the development of symptoms and potential complications such as aortic aneurysm.
Medication: Some medications may be prescribed for people with Marfan syndrome. For example, beta blockers or ACE inhibitors can regulate heart rate and slow aortic dilation. Medications can also be used to control symptoms such as eye complications or pain.
Surgical Intervention: Individuals at risk of aortic aneurysm or other serious heart and blood vessel problems may need surgery. This applies to cases where the aorta needs to be repaired or replaced.
Eye Surgery: Eye surgery may be needed for people who have eye problems due to Marfan syndrome, especially if there is lens subluxation or retinal problems.
Physical Therapy and Rehabilitation: Physical therapy and rehabilitation programs may be recommended for those with joint pain or skeletal problems such as scoliosis.
Lifestyle Changes: Maintaining a healthy lifestyle, not smoking, exercising regularly and adopting a balanced diet are important in the management of Marfan syndrome.
Treatment of Marfan syndrome should be individualized and carried out by a multidisciplinary healthcare team. The aim of treatment is to control the patient's symptoms, prevent or delay complications and improve quality of life. Therefore, Marfan syndrome treatment should be tailored to the specific needs and condition of each individual.