Ziekte Van Marfan

Ziekte Van Marfan

Ziekte Van Marfan: A Comprehensive Guide

Overview

Ziekte Van Marfan, often shortened to Marfan syndrome, is a genetic disorder that affects the body's connective tissue. Connective tissue provides support and structure to many parts of the body, including the heart, blood vessels, eyes, lungs, and bones.

Marfan syndrome occurs when there is a mutation or change in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is a key component of connective tissue.

Marfan syndrome is inherited in an autosomal dominant pattern, meaning that only one parent needs to carry the mutated gene for the child to inherit the condition.

Symptoms

Symptoms of Marfan syndrome can vary depending on the severity of the condition. Some people may have mild symptoms, while others may have more severe symptoms that can affect multiple parts of the body.

Common symptoms include:

• Tall stature
• Long and slender limbs
• Scoliosis
• Chest deformities (e.g., pectus excavatum, pectus carinatum)
• Joint problems
• Eye problems (e.g., nearsightedness, lens dislocation)
• Cardiovascular problems (e.g., aortic aneurysm, mitral valve prolapse)
• Lung problems (e.g., pneumothorax, emphysema)

Diagnosis

Marfan syndrome is often diagnosed based on a combination of physical examination, family history, and genetic testing.

A physical examination can reveal some of the characteristic physical features of Marfan syndrome, such as tall stature, long and slender limbs, and chest deformities.

A family history of Marfan syndrome can also increase the likelihood of a diagnosis. However, it is important to note that Marfan syndrome can also occur in people with no family history of the condition.

Genetic testing can confirm a diagnosis of Marfan syndrome. There are several different genetic tests that can be used to identify the FBN1 gene mutation.

Treatment

There is no cure for Marfan syndrome, but treatment can help to manage the symptoms and prevent or treat complications.

Treatment for Marfan syndrome typically involves a team of healthcare professionals, including doctors, nurses, and genetic counselors.

Treatment may include:

• Medications to lower blood pressure and reduce the risk of heart problems
• Surgery to correct heart problems, such as aortic aneurysm or mitral valve prolapse
• Surgery to correct chest deformities
• Eye exams and treatment for eye problems
• Physical therapy to help improve joint problems and scoliosis
• Genetic counseling for families affected by Marfan syndrome