Marfan syndrome

Marfanoid or Marfan-like syndrome is a hereditary disease that is associated with connective tissue disorders and negatively affects many organs and systems of the body. The marphanopic condition has genetic characteristics and may be associated with one or another change in genes.

One of the most common signs of the disease is a change in the shape and size of the eyes, as well as the spine: shortening of the long bones, curvature of the spine, high position of the ribs and severe kyphosis. This can lead to certain inconveniences when walking, difficulty moving arms and legs, which worsens the quality of life of patients and contributes to the development of depression.

The syndrome also manifests itself in other disorders, such as hypermobility of joints and skin, cardiac arrhythmia and high blood pressure, dizziness, muscle weakness, etc. Complications associated with diseases of the cardiovascular system, lungs and eyes (retinal detachment and loss of vision) may also occur. .

The causes of the disease are genetic mutations in several genes that encode the synthesis of proteins responsible for the formation of connective tissue, including collagen, elastin and angiotrophin. When these genes don't work correctly, proteins don't form properly or don't bind together, disrupting the structure and function of connective tissue. There may be various forms of the syndrome, some of them have their own distinctive features and complications. Treatment is prescribed based on genetic analysis and symptoms of the disease. It usually consists of medication, physical therapy, and behavioral therapy. However, from experience, most patients with the syndrome suffer from associated problems that reduce their quality of life. This emphasizes the importance of continuous monitoring of health status, timely