WHAT IS MARFAN SYNDROME?
Marfan syndrome can be described as a heritable genetic disorder that affects the connective tissue, leading to long and slim hands, arms, legs, fingers, toes, etc.
It is characterized by disproportionately tall arms, legs, fingers, and toes as it affects the joints in that region leading to overly flexible joints. Sometimes the heart, lungs, eyes, bones, blood vessels, and covering of the spinal cord are also affected.
Marfan syndrome is mostly inherited with about 75 percent of cases been inherited and 25 percent resulting from a new mutation. It was first described by a French pediatrician called Antoine Marfan in 1896 after observing the features of a five-year girl affected by the syndrome at Mount Sinai Medical Center in New York and the syndrome was named after him. There is still no cure for Marfan syndrome.
Marfan syndrome affects both men and females across the globe and according to research, about 1 in 5000 to 1 in 10000 people have been seen to have this syndrome.
The risk factor of Marfan syndrome is majorly having a family history of the syndrome and or a parent with Marfan syndrome.
MARFAN SYNDROME DIAGNOSIS
Marfan syndrome can be quite hard to diagnose especially in children as the symptoms may not manifest themselves until the adolescent period.
Your doctor will check and examine your family medical history, you will also be examined for physical signs and symptoms that could manifest themselves as low jawline, high arched palate, early glaucoma, etc
In the absence of family history, Marfan syndrome is examined using the Steinberg sign. Your doctor will ask you to flex your thumb as far as possible and then close your fingers over them. If the thumb is very visible and sticks out from under your fingers at the other end, then Marfan syndrome is suspected.
It could also be diagnosed using the Walker Murdoch sign. This procedure involves your doctor asking you to curl your thumb of one hand over the fingers of the other hand, if there is an overlapping of the finger and thumb, then Marfan syndrome is detected.
Also, the Marfan syndrome test can include tests and scans such as magnetic resonance imaging test, computed tomography scan, or X-ray could be used to ascertain complications of the lower back and also be echocardiogram be used to check for Marfan syndrome in the aorta for any enlargement.
If you suspect yourself or your child to have this syndrome, you are advised to see your doctor for evaluation.
MARFAN SYNDROME TREATMENT
The treatment of Marfan syndrome aims at reducing the symptoms and managing the condition as this syndrome has no cure yet.
You will be administered medications such as beta-blockers in other to reduce blood pressure and heart rate.You might be prescribed an orthopedic brace especially if you are having a rapid growth of your skeletal system particularly issues with your bones. You will be asked to avoid smoking in other not to develop lungs complication or breathing issues.
You will have to regularly visit the hospital in other to always examine the progress of your treatment and effectively manage your complications.
You will be able to perform mild exercises but strenuous exercises will be avoided
COMPLICATIONS OF MARFAN SYNDROME
Marfan syndrome can affect almost any part of your body resulting in several complications which include:
MARFAN SYNDROME LIFE EXPECTANCY
Marfan syndrome has a high mortality rate due to the areas of the body it affects which include the heart, the spine, the lungs, etc. Hence, people with Marfan syndrome are expected to always visit their doctor for routine check-ups.
However, despite the complications associated with Marfan syndrome, with proper treatment, and the advance in medical technology, someone with Marfan syndrome, can live up to 70 years.
- Cardiovascular complications such as complications with the heart and its blood vessels as the abnormal connective tissue could result in a weakened aorta which is a major artery of the heart that supplies blood to the body arising from the heart. These complications could be aortic aneurysms, aortic dissection, valve malformation, etc.
- Complications in the eyes such as lens dislocation due to weakening connective tissue, retinal problems as the retina may detach or tear easily, the development of glaucoma, etc.
- Complications in the skeletal system resulting in an abnormal spine such as scoliosis, abnormal development of the ribs which causes the breast bone to appear sunken or protruding into the chest, etc.
- Complications also during pregnancy due to the increase in blood pressure resulting in aorta dissection.
MARFAN SYNDROME SYMPTOMS
The signs and symptoms of Marfan syndrome vary amongst people, even amongst family members with the same syndrome, as some symptoms could be mild while others could be quite chronic.
The symptoms and signs could include:
- Breast bone that protrudes outwards or dips inward.
- High arched palate and crowded teeth.
- Heart murmurs.
- Extreme nearsightedness
- Flat feet.
- Abnormally curved spine.
- Tall and slender build.
WHAT CAUSES MARFAN SYNDROME
Marfan syndrome is caused by a mutation of a gene called the FBN1 on chromosome 15 which is responsible for producing fibrillin – a protein that enables the body to produce connective tissue.
The alteration of this margin syndrome gene leads to the production of abnormal connective tissue that is abnormally elastic. The mutation of the gene could be due to a transfer from the parent or a new mutation.
There is a 50 percent chance that the child of an infected person will also become infected although sometimes a spontaneous Marfan syndrome genetics defect in the sperm or egg could occur during pregnancy.
How can I reduce the risk of my unborn baby having Marfan syndrome?
You will be asked to go for counseling and you will need to seek medical advice from your doctor as Marfan syndrome is hereditary and the probability of the baby having the gene is high.
What is the life expectancy of someone with Marfan syndrome?
Despite the complications associated with Marfan syndrome, with proper treatment, and the advance in medical technology, someone with Marfan syndrome, can live up to 70 years
At what age is Marfan syndrome usually diagnose?
Recent studies have shown that the median age at diagnosing this syndrome is mostly during puberty and adolescence period.
Does Marfan syndrome affect intelligence?
Marfan syndrome affects mainly the heart, skeletal system especially the bone, the lungs, etc .there is no evidence that Marfan syndrome affects the brain.
Does Marfan syndrome get worse with age?
Marfan syndrome can be mild or chronic and get worse with age depending on the areas affected and to what degree.