Marfan syndrome

Marfan syndrome's disease overview

Marfan syndrome in people with long limbs is a genetic disorder that affects connective tissue (supportive fibers, organ connection and other structures in the body). Because connective tissue is found throughout the body, Marfan syndrome affects the development and function of many organs. However, this syndrome usually affects the heart, eyes, blood vessels and bones.

Medicine of Marfan syndrome

The most obvious sign of this disorder includes tall, thin, abnormal long limbs , fingers, long toes, unmeasurable, protruding sternum or concave, curved spine, loose joints, large and flat feet, heavy myopia. The effects caused by marfan syndrome may be mild or severe. If the aorta (large blood vessels carry blood from the heart to the rest of the body) is affected, this condition can be life -threatening.

Marfan syndrome was named after French doctor Antoine Marfan, the first person to describe this disorder in 1896, determined by Francesco Ramirez related to the 1991 gene. Marfan syndrome, a genetic mutation that causes defects in the production of fibrillin (is a protein found in connective tissue).

Marfan syndrome has a frequency of 1/5000, inherited (the child of a Marfan patient with a probability of being ill is 50%). About 25–30% of cases are due to mutations, no family history. The signs of marfan syndrome change, different even for people in the same family. Some people are only mild, some people have dangerous complications. 

The consequences of Marfan syndrome :

  • Marfan syndrome can cause complications in organs, usually hearts, blood vessels, bones, eyes. In particular, cardiovascular complications are common (occurring in 9/10 people infected) and the most dangerous. Patients may have an abnormal heart valve abnormalities, causing stenosis, heart valve, long -term heart failure. The connective tissue abnormal causes the main artery walls to cause the aortic aneurysm or the aortic dissection. A bulge or aortic dissection may cause aortic breakage, which leads to death. The severity of these complications will increase with age.
  • Besides, Marfan syndrome can cause complications in other agencies such as: eye (glaucoma, cataract , ...), bone (tall, thin, unworthy long limbs, protruding sternum or concave, curved spine, flat feet, ...), nervous system, skin, lung, ...

    • Causes of Marfan syndrome's disease

    What mutations marfan syndrome?

    Marfan syndrome occurs due to a defect in the Fibrillin-1 gene (FBN1). 

    FBN1 is the gene that produces protein needed to make elastic fibers in connective tissue. This gene mutation can reduce the number and quality of Fibrillin-1 in connective tissue, leading to the weakening of structures.

    About 75% of people with Marfan syndrome inheriting abnormal genes from their parents are sick people.

    About 25% of Marfan syndrome cases are the result of a new mutation in the gene.

    A person with a Marfan syndrome has 50% of the chance of transmitting disease to the child

    Parents are not infected with a probability of 1/10000 to give birth to a child with Marfan syndrome

    Symptoms of Marfan syndrome's disease

    Symptoms of this condition may appear during embryo and young children or later in life when children grow up. Some symptoms may worsen with age include:

    Bone system: This disorder manifests itself in each person. The visible symptoms often appear in bones and joints including:

  • Abnormal height
  • Long legs
  • Flat and big feet

    • Loose joints

  • Thin and long fingers

    • The bent spine

  • Chest bone (breastbone) protruding or subsidence inside
  • A lot of teeth, thick growth

    • Cardiovascular system:

  • The aorta may be enlarged or removed, this condition may be asymptomatic. However, the aorta is at risk and life -threatening. Therefore, patients need to see a doctor immediately if chest pain, shortness of breath or coughing without control.
  • During pregnancy: The heart of the pregnant woman must pump a more blood than usual, thus increasing the risk of aortic breakage and death for the mother.
  • Excessive valve or heart valve deformity, which can lead to heart failure

    • Eyes:

  • Deviation of one or two eyes

    • Heavy myopia

  • Early output cataracts
  • peeling or tearing the retina

    • The nervous system: Due to the abnormal structure of the epidural that can cause discomfort such as abdominal pain, pain or numbness in the leg.

    Skin: Many people with Marfan syndrome have stretch marks on the skin without any weight change. Stretch marks can occur at any age and do not harm health. However, people with Marfan syndrome are at high risk of hernia or groin

    Lung:

  • Linking tissue lesions make the alveoli less elastic, if the alveoli is dilated or swollen may increase the risk of lung collapse. 

    • A few people with Marfan syndrome may have respiratory disorders related to sleep such as snoring, or sleep apnea.

    People at risk for Marfan syndrome's disease

    Marfan syndrome is a fairly common condition, affecting 1/5000 people. This situation can appear in everyone and all ages and regardless of gender.

    The biggest risk factor is genetics from parents suffering from this situation.

    Prevention of Marfan syndrome's disease

    There is no preventive method for cases of marfan syndrome due to genetic mutations.

    For people with Marfan syndrome, to prevent genetic disease for children (at a rate of 50%), patients should be inherited before giving birth. 

    There is currently no diagnostic test that can determine whether a child who has not been born has a Marfan syndrome, but the genetic advice helps families with disease genes to understand. Genetic risk for children. 

    Measures to prevent severe progression in people with Marfan syndrome:

  • Periodic medical examination at least once a year to monitor the progression of the disease and treat symptoms if any. 
  • Use antibiotics before dental tricks or surgery to prevent infected endocarditis. 
  • There is a reasonable living regime to reduce the burden on the heart, avoid excessive exertion, carry heavy objects, play high -intensity sports. 

    • Marfan syndrome with symptoms of aortic aneurysms should be checked regularly by X-ray and ultrasound.

    Diagnostic measures for Marfan syndrome's disease

    The diagnosis of Marfan syndrome is relatively difficult because many other connective tissue disorders have similar signs and symptoms. 

    There is no specialized test used to diagnose Marfan syndrome. The diagnosis will be based on medical history and signs related to this syndrome and subclinical.

    Tests often used to diagnose the disease include:

  • ECG measurement

    • Echocardiography: To check the condition of the heart valve and the size of the aorta. 

  • Computerized tomography (CT scan)
  • Magnetic resonance imaging (MRI)
  • Eye check:

    • Check with the slot light: to check whether the lenses are deviated or not, whether the cataract or the retina is separated. The doctor will put the drug into the eye of the patient to stretch the eye during the test

    Check eye pressure: to check the pressure inside the eyeball. Doctors often use eye drops before proceeding.

  • Genetic test

    • Marfan syndrome's disease treatments

    Currently, there is no way to treat Marfan syndrome. 

    Treatment methods often focus on reducing the impact of different symptoms in different parts:

    Cardiovascular:

  • If the problem exists in the heart valve, the doctor can use drugs such as beta blockers or alternative surgery.
  • Aortic repair surgery: If the aorta diameter increases rapidly or reaches about 5cm, the patient needs surgery to replace a part of the aorta with a tool. Summary, this is aimed at preventing complications of aortic tear. The aortic valve may also need to be replaced.

    • Bones and joints:

  • Annual health check helps detect changes in the backbone or sternum, the test is especially important for young people to grow rapidly. The doctor may recommend orthopedic or surgery, especially if the rapid growth of the skeletal system causes heart or lung problems.
  • Treatment of scoliosis: If children have scoliosis, doctors may appoint a special type of shirt until maturity. If the spine is more scoliosis may need surgery.
  • Treatment of complications of sternum: surgery to repair complications of convex or concave complications of the breastbone.

    • Vision:

  • regular eye exams help detect vision problems. 
  • Using glasses, contact lenses or surgery depending on the condition of the patient.
  • Eye surgery: If there is partial peeling of the retina, cataracts can be replaced by artificial lens.

    • Lung:

  • Do not smoke. 
  • If the patient feels short of breath, sudden chest pain or persistent dry cough, you need to see a doctor immediately.

    • People with Marfan syndrome if detected early, closely monitored and treated appropriately, the post -preparation improvement is significantly improved, and may even live almost normal people. Previously, the average life expectancy of the patient with Marfan syndrome was 45 years old, death mainly due to cardiovascular complications. Currently, thanks to early detection and appropriate treatment, longevity has increased, there are cases of living over 70 years old. 

    See also:

  • Catatonia syndrome: Causes, symptoms, diagnosis and treatment and Treatment
  • Syndrome (3x syndrome): Causes, symptoms, diagnosis and treatment

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