Marfan Syndrome is a genetic disorder that affects the connective tissue that supports the body’s structure and is necessary for growth. Especially around the bones, heart, eyes, and blood vessels. Most patients are tall, thin, and have abnormally long arms, legs, fingers, and toes. And there are complications that affect various organs, which can be severe and life-threatening.
Symptoms of Marfan Syndrome
Patients with this disease often begin to experience abnormal symptoms at a young age. Each person has different symptoms and levels of severity. Most of the symptoms become more severe as people get older. Symptoms of Marfan Syndrome that can be observed are as follows:
- He is tall and thin.
- Unusually long arms, legs, fingers, and toes
- The roof of the mouth is raised higher than normal, and the teeth are crooked.
- deformed breastbone It may be convex in front or concave into the body.
- There is a heart murmur. which is the sound of abnormal blood flow around the heart
- abnormally curved spine
- flat feet
- The cornea moves or is severely nearsighted and may be more at risk for cataracts and glaucoma than the general population.
Additionally, if an illness affects the aorta, which carries blood away from the heart to the rest of the body, it can cause the aorta to bulge and rupture, causing life-threatening injuries. If the patient has symptoms of this condition, such as chest pain, unable to stop coughing, or abnormal breathing You should immediately see a doctor.
Causes of Marfan Syndrome
Marfan Syndrome is caused by a mutation in the FBN1 gene that causes abnormalities in the production of the protein fibrillin, which is necessary for the formation of connective tissue. It affects the growth of bones and various organs. Such gene abnormalities can be passed on from generation to generation. If one parent has this disease, the child is at a 50 percent risk of developing the disease. Of all Marfan Syndrome patients, 75 percent are caused by genetics, while the other 25 percent are caused by genetic mutations.
Diagnosis of Marfan Syndrome
Diagnosing Marfan Syndrome can be difficult. This is because patients may have different symptoms and severity of the disease. Therefore, doctors cannot make a diagnosis based on the patient’s physical abnormality alone. But other methods must be used as well. First, the doctor will examine the symptoms and take a family health history. If the patient is at risk for disease, other organs may be examined to confirm the diagnosis, including:
heart examination
- Check echo of the heart It is taking pictures of the heart using sound waves. To detect abnormalities of the heart valves and aorta.
- Electrocardiogram To check your heart rate and rhythm
- Examine the heart using electromagnetic waves It is a test for abnormalities of the lower back.
Eye examination
- Eye exam to check your vision level.
- Measure intraocular pressure To see if there is a tendency to develop glaucoma or not.
- Examination with a special microscope (Slit Lamp Exam) to check for abnormalities of the eye such as shifting cornea, cataracts, retinal detachment, etc.
However, if the results of the examination using the above method are not clearly stated. Doctors may also use a genetic code test to confirm the diagnosis.
Marfan Syndrome Treatment
Marfan Syndrome has no cure. Treatment therefore aims to palliate symptoms and reduce the risk of complications. Doctors may prescribe blood pressure-lowering drugs to prevent the aorta from dilating and tearing, such as losartan and beta-blockers. However, beta-blockers can have side effects. Especially for patients with asthma, for example, it causes drowsiness, headaches, and decreased heart rate. Swelling in the hands and feet Have breathing and sleeping problems Doctors may recommend that patients with these symptoms take calcium channel blockers instead.
For patients with a shifted intraocular lens Your doctor may recommend glasses or contact lenses that are specially designed to help refract light around the lens. But if the symptoms are severe enough to affect the efficiency of vision Patients may require intraocular lens replacement surgery.
However, patients who are at risk of having their aorta torn or who want to correct an abnormal shape may need to undergo surgery as follows.
- Aortic surgery If the patient has one of these blood vessels that expands rapidly or is larger than 2 inches, the doctor may recommend surgery to replace the blood vessel with an artificial blood vessel. To prevent danger from broken blood vessels And they may recommend artificial heart valve replacement surgery as well.
- Breast bone correction surgery It is the correction of deformed breast bones, such as the breast bone protruding forward or being concave into the body. This method of treatment is classified as a surgical procedure.
- Scoliosis treatment Doctors often recommend it to young patients with scoliosis Use a spinal support device which must be worn at all times until the body is fully grown Those with severe scoliosis may need surgery to lengthen the bones.
- eye surgery To treat symptoms of a retinal tear or retinal detachment. As for cataract patients with a cloudy intraocular lens Your doctor may recommend intraocular lens replacement surgery.
In addition, Marfan Syndrome patients should be careful when engaging in various activities, especially those at risk for blood erosion or tearing of the aorta wall. You should avoid activities that raise blood pressure and affect the work of your heart, such as playing contact sports with others. or lifting heavy objects And should turn to light exercise instead, such as brisk walking, bowling, golf, etc.