Marfan Syndrome

Marfan Syndrome is a genetic disorder that affects the structure and function of connective tissues in the body. This condition can affect various organs and tissues such as the skeletal system, eyes, heart, and blood vessels. While Marfan Syndrome can lead to serious complications that can affect life expectancy, quality and duration of life can be significantly increased with early diagnosis and appropriate treatment. In this article we have written for you, we will examine what Marfan Syndrome is, its causes, and treatment methods.

What Is Marfan Syndrome?

Marfan Syndrome is a genetic disorder that affects the structure and function of connective tissues in the body. Connective tissues contain structures that fill the space between cells and hold organs together. Marfan Syndrome can affect various organs and tissues such as the skeletal system, eyes, heart, and blood vessels. This can lead to long and thin fingers, long arms and legs, flexible joints, eye problems, cardiovascular disease, and problems with the skeletal system. The life expectancy of people with Marfan Syndrome can approach a normal life expectancy with the right treatment and follow-up.

What Causes Marfan Syndrome?

Marfan Syndrome is a genetic disorder that occurs as a result of mutations in a gene called FBN1. The FBN1 gene is responsible for the production of a protein called fibrillin-1. Fibrillin-1 is the building block of elastic fibers, which are important for the flexibility and strength of connective tissues. In people with Marfan Syndrome, the structure and function of the fibrillin-1 protein is impaired, leading to weakened connective tissues and problems in various organs and tissues.

Marfan syndrome is inherited in an autosomal dominant mode, meaning that there is a 50% chance that the child of an affected parent will inherit it. However, in some cases, Marfan syndrome can also occur as a result of a new genetic mutation without a family history. This is important for genetic counseling and family planning.

What Are The Symptoms of Marfan Syndrome?

Although the symptoms of Marfan Syndrome vary from person to person, some common symptoms are as follows;

Skeletal system symptoms

• Long and thin fingers,
• Long arms, legs and neck,
• High palate and compression of the teeth,
• Flat soles,
• Deformities of the rib cage (hollow or protruding chest),
• Scoliosis (wrong inclination of the spine),
• Increased flexibility and joint laxity,

Eye symptoms

• Myopia (nearsightedness),
• Lens dislocation (displacement of the lens of the eye),
• Cataract (clouding of the lens of the eye),
• Glaucoma (increased intraocular pressure),
• Retinal detachment (separation of the photosensitive layer),

Symptoms of the cardiovascular system

• Aortic aneurysm (enlargement of the main vessel and risk of rupture),
• Mitral valve prolapse (heart valves not closing properly),
• Heart rhythm disorders (arrhythmias),

Pulmonary and respiratory symptoms

• Limited expansion of the lungs,
• Spontaneous pneumothorax (sudden collapse of the lung of unknown cause),

Nervous system symptoms

• Dural Ectasia (enlargement of the lining of the brain and spinal cord),
• Headaches and migraines,

What Is Done In The Treatment Of Marfan Syndrome?

Although there is no definitive treatment for Marfan Syndrome, various treatment methods are applied to improve the quality of life of patients and reduce the risk of complications. These treatment methods include;

• Drug treatment,
• Glasses and lenses,
• Physiotherapy and rehabilitation,
• Surgical treatment,
• Regular check-ups,
• Lifestyle changes,

Is Marfan Syndrome Genetic?

Marfan syndrome is caused by a mutation of a gene called FBN1. This gene is responsible for encoding a protein called fibrillin-1, an important component of connective tissue. Mutations in the FBN1 gene lead to abnormal structure or incomplete production of the fibrillin-1 protein, resulting in weakened connective tissue and symptoms of Marfan syndrome.

Marfan syndrome is usually inherited in an autosomal dominant pattern. This means that only one copy of the mutated FBN1 gene from an affected parent is sufficient for the child to carry the risk of developing Marfan syndrome. However, in some cases, Marfan syndrome can also occur without affected family members due to new mutations.

How Is Marfan Syndrome Test Performed?

Diagnosis of Marfan syndrome usually begins with the patient’s medical history, physical examination, and evaluation of symptoms. Doctors will evaluate the symptoms related to the affected organs, such as the patient’s skeletal system, eyes, heart, and vessels, and make an assessment according to the criteria for Marfan syndrome.

If necessary, doctors may order genetic tests. These tests are blood tests to detect mutations in the FBN1 gene. Although genetic testing is an important tool in the diagnosis of Marfan syndrome, in some cases mutations in the FBN1 gene may not be detected. Therefore, the diagnostic process includes the evaluation of clinical findings and other tests (for example, echocardiogram and eye examinations) as well as genetic tests.

Which Department Should I Go To For Marfan Syndrome?

Since Marfan syndrome is a genetic disorder that affects different organs and systems of the body, the diagnosis and treatment process requires a multidisciplinary approach. Firstly, the family doctor or general practitioner may assess the patient with suspicion of Marfan syndrome and refer them to the appropriate specialists.

For the diagnosis and treatment of Marfan syndrome, a team of the following specialists is usually involved

• Cardiologist
• Genetic counselor or clinical geneticist,
• Ophthalmologist,
• Orthopaedist

These specialists will assess the patient’s condition, determine appropriate diagnostic and treatment methods, and develop strategies to improve the patient’s quality of life.

Marfan Syndrome Treatment Prices in Turkey

Turkey has managed to announce its name to the world with its investments and studies in the field of health. Especially the latest technological devices used in diagnosis and treatment procedures have been a beacon of hope for many diseases. However, there has been an increase in health tourism in Türkiye.

• Hospitals are large, clean, spacious and fully equipped in terms of technological equipment.
• Turkish doctors are specialized, successful, and skilled in their fields.
• Nurses and carers are friendly and compassionate.
• Finding answers to the questions asked quickly and accurately.
• Patience and understanding of all staff, including the intermediary company dealing with the patient.
• Turkey offers holiday opportunities with its natural and historical beauties.
• Easy transportation.
• Diagnosis, treatment, accommodation, eating, drinking, dressing, and holiday needs can be met at affordable prices.

Such situations are shown among the reasons for preference. Regarding Marfan Syndrome Treatment Prices in Turkey, we can see that patients and their relatives who want to come to Turkey are doing research. However, it would not be right to give clear price information at this stage. Many factors such as the type of disease, stage, diagnosis process, treatment process, and stay in Türkiye affect the price issue. If you want to get more detailed price information, you can contact us. In addition, if you come to Turkey for treatment through us, we can facilitate your visa application process with the invitation letter sent by us to the consulate.