Marfan syndrome is a genetic disorder that causes disorders of the connective tissue, namely tissue that functions as a support or liaison between tissues and organs of the body, including bone structure. This condition can be experienced by anyone and occurs at any time.
Connective tissue can be found throughout the body. Therefore, the symptoms of Marfan syndrome can be felt in many parts of the body, although they do not occur all at once. Symptoms that appear can be mild to severe. Some people don't even experience any symptoms at all.
Although some are asymptomatic, generally people with Marfan syndrome have a distinctive physical disorder, namely a thin but tall body, and arms, legs, and fingers that grow longer than usual. People with Marfan syndrome also tend to have joints that are more flexible than people in general.
Causes of Marfan Syndrome
Marfan syndrome is caused by mutations or abnormalities in genes FBN1. Normally, this gene functions to produce the protein fibrillin, whose job it is to build elastic connective tissue in the body and control growth.
Mutations in this gene limit the body's ability to produce fibrillin. As a result, the growth of elastic connective tissue decreases and bone growth becomes uncontrolled.
Marfan sindrom syndrome risk factors
Most cases of Marfan syndrome are inherited from parents and are autosomal dominant. That is, if one parent has Marfan syndrome, the chances of their child having this syndrome are 50%. This possibility is greater if both parents have Marfan syndrome.
However, 1 in 4 cases of Marfan syndrome is not due to genetic factors. In this case, the fibrillin gene mutation usually occurs in the father's sperm or the mother's egg. The fetus resulting from the fertilization of the sperm or egg cell has the potential to have Marfan syndrome.
Marfan Syndrome Symptoms
Symptoms of Marfan syndrome vary widely, as this syndrome can affect many areas of the body. Some sufferers experience only mild symptoms or even no symptoms, but other sufferers may experience severe and serious symptoms.
In addition, the symptoms of Marfan syndrome can also appear before adulthood, even though the genetic disorder has been present since birth. The common symptoms of Marfan syndrome are:
Eye
One of the most common symptoms of Marfan syndrome in the eye is a shift in the eye lens (ectopia lentis). This condition makes the vision of people with Marfan syndrome blurry.
There are also several other eye disorders that can occur, namely:
- Nearsightedness (myopia)
- Corneal thinning
- Cylindrical eye (astigmatism)
- Cataracts that appear before old age
- Glaucoma
- Crossed eyes (strabismus)
Heart and blood vessels
Marfan syndrome can be characterized by disorders that occur in the cardiovascular system (heart and blood vessels), such as:
- Aortic aneurysm
An aortic aneurysm is a dilation of the aorta, which is a large blood vessel that is directly connected to the heart, due to weakening of the connective tissue in the aortic wall.
- heart valve diseaseHeart valve disease is a disorder that causes the valves between the chambers of the heart to not close tightly, causing suboptimal blood flow to the heart.
Bones and joints
Marfan syndrome generally causes symptoms that affect the bones and joints, such as:
- Tall and skinny body
- The shape of the arms, legs, and fingers and toes are long and disproportionate to the body
- Joints limp and weak
- The sternum is very prominent or even concave
- The shape of the head is elongated, with the eyeball position more in
- Jaw looks small
- Irregular stacked teeth
In addition to the above symptoms, people with Marfan syndrome can also experience bone disorders, such as scoliosis and spondylolisthesis.
Skin
On the skin, Marfan syndrome can cause symptoms such as: sstretch marks in the shoulders, lower back, or pelvis. Usually, stretch marks caused by weight loss or gain. However, in patients with Marfan syndrome, stretch marks may occur without any change in body weight.
When to go to the doctor
Check with your doctor if you experience any of the symptoms mentioned above. Early examination and treatment is needed to prevent complications that can occur.
Even if you have no symptoms, it's a good idea to get a genetic test if you have a family history of Marfan syndrome. This examination can be useful information if at any time you experience certain medical conditions.
In addition, you can also find out how much risk Marfan syndrome is passed on to your child.
Marfan Sindrom Syndrome Diagnosis
To diagnose Marfan syndrome, the doctor will ask about the symptoms and complaints experienced by the patient. If you suspect Marfan syndrome, the doctor will also ask for a family history of illness, especially those related to Marfan syndrome.
After that, the doctor will perform a thorough physical examination and look for signs that represent Marfan syndrome. This disease cannot be diagnosed only by physical examination. Therefore, to confirm the diagnosis, some of the following investigations can also be performed:
- Echocardiography, to see if there is swelling or damage to the aorta
- MRI or CT scan, to determine the condition of the spine and the condition of the body organs in detail
- Eye examination, to detect eye disorders, such as lens shift, glaucoma, cataracts, or retinal detachment
- Genetic testing, to detect mutations in genes FBN1
Marfan Sindrom Syndrome Treatment
Marfan syndrome is a disorder that cannot be completely eliminated, but treatment can be used to reduce symptoms and prevent complications, especially if treated early. The treatment given depends on the part of the body that is experiencing symptoms, as well as their severity.
The following are some treatments that can be done based on the part of the body that has abnormalities:
Eye
For patients with Marfan syndrome who are nearsighted, the treatment that can be done is the provision of appropriate glasses or contact lenses. If the patient has cataracts, cataract surgery can be performed.
Meanwhile, for Marfan syndrome patients who have glaucoma, treatment can be done by administering eye drops, surgery, or lasers. Please note, all of these methods are only as prevention so that the glaucoma condition does not get worse.
Heart and blood vessels
In patients with heart problems, doctors will prescribe beta blockers (beta-blockers), such as bisoprolol, to relieve the work of the heart and the burden of the aorta in transporting blood. This method can reduce the risk of the aorta to bulge (aortic aneurysm) and rupture.
If the patient can not take beta blockers, the doctor will give other drugs, such as irbesartan or losartan, to lower blood pressure. However, if the condition of the aortic aneurysm is severe and potentially life-threatening, the doctor may recommend surgery to replace the aorta with a synthetic material.
Bones and joints
People with Marfan syndrome with a protruding sternum usually don't need treatment, because most do not cause problems.
On the other hand, an inward curvature of the sternum (pectus excavatum) needs to be corrected, as it can compress the lungs and interfere with breathing. Treatment of this condition can be done with surgery.
For people with Marfan syndrome with scoliosis, treatment will depend on the severity experienced by the patient. In children who are still in their infancy, the doctor will recommend the use of a spinal corset.
However, if the spinal curvature is severe (40 degrees or more) or the curvature puts pressure on the spinal cord, your doctor may recommend surgery to realign the bones.
Most people with Marfan syndrome will experience joint pain. These complaints can be treated with paracetamol or non-steroidal anti-inflammatory drugs (NSAIDs). Light exercise, such as walking, can also be done to reduce joint pain.
Marfan Syndrome Complications
If not treated properly, Marfan syndrome can lead to the following complications:
- Heart and blood vessel disorders, such as aortic dissection, arrhythmias, and heart failure
- Eye disorders, such as retinal detachment and blindness
- Disorders of the spine, such as low back pain
- Dental problems, such as difficulty chewing and gingivitis
- Lung disorders, such as pneumothorax, bronchiectasis, and interstitial lung disease
- Sleep apnea, due to the shape of the face, oral cavity, or teeth that are not normal
Marfan Syndrome Prevention
Marfan syndrome cannot be prevented. However, the risk of complications can be reduced by detecting and treating Marfan syndrome early, as well as consulting and genetic testing before planning a pregnancy.