Marfan syndrome: a connective tissue disease

Marfan syndrome, also called Marfan syndrome, is a congenital and hereditary condition. In this disease there is an abnormality in the building blocks of the connective tissue in various places in the body. The main parts affected are the heart, blood vessels, eyes and skeleton. This disease is one of the most common genetically determined connective tissue diseases. What are the symptoms and how can this condition be treated?

General information

This disease was first described at the end of the 19th century by the French pediatrician Marfan (1858-1942). He had a patient who was said to have this congenital hereditary connective tissue disease. This disease affects approximately one in 10,000 people and occurs in both men and women. Marfan syndrome is one of the most common genetically determined connective tissue diseases. The symptoms may be present from birth or occur in later childhood. This condition also occurs all over the world. In 1991 it was discovered that this disease is caused by a mutation in a certain gene.

Hereditary disorder

Marfan syndrome is a congenital hereditary disease. It is also called an autosomal dominant disorder. This means that there is a dominant trait that is genetically predisposed, caused by a mutation in a certain gene on a chromosome. This is information that is located in the genes within the cell nucleus. This concerns a gene that codes for the building block fibrillin-1 gene , which contributes to the formation of, among other things, the lens of the eye and the body artery from the heart (the aorta). Not all criteria are visible at birth and can reveal themselves later in life.

Characteristics

The abnormality in the structure of the connective tissue where the function of fibrillins plays a role occurs in many places in the body, especially in the heart, blood vessels, skeleton and eyes. This syndrome indicates that it is a collection of abnormalities that occur together and precisely in this combination. All phenomena together can be explained from one cause. Mentioned below are the symptoms characteristic of Marfan syndrome. To diagnose this disease, at least three of these characteristics must be present in the patient.

Heart:

  • Gradual widening of the aorta
  • Heart valve disorder

 

Skeleton:

  • Long arms and legs in proportion
  • Long fingers
  • Striking body length
  • Overly mobile joints

 

Eyes:

  • Myopia
  • Increased eye pressure
  • Retinal detachment

 

Other characteristics:

  • Little subcutaneous fat
  • Collapsed lung
  • Inguinal hernia
  • Stretch marks
  • Sagging vagina

 

Diagnosis

The diagnosis can be made on the basis of family history and through genetic testing (molecular diagnostics). In addition, a physical examination may take place. An ophthalmologist can perform an eye exam, and an ECG, CT or MRI may be taken. It is possible that there are people who have been diagnosed with Marfan even though they do not have the abnormal gene. Apparently it was another connective tissue disorder.

Therapy

Once the diagnosis has been made, a treatment plan can be drawn up. To prevent heart disease, you can choose medication that contains beta blockers. Height growth can be inhibited by hormone therapy. It is also recommended not to practice black sports because of the great mobility of the joints. Life expectancy used to be lower than average. Nowadays good treatments are available, making life expectancy almost normal.

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