Marfan Syndrome

Marfan Syndrome: Marfan syndrome is a connective tissue illness that slows down the growth of the body.
Your skeletal framework and all of your body’s organs are supported by connective tissue.
A mutation in the FBN1 (fibrillin-1) gene causes Marfan syndrome, often known as Marfan’s syndrome.
It’s usually hereditary, but not always.

Marfan syndrome is a connective tissue illness that can damage your entire body, including your bones, muscles, skin, eyes, blood vessels, heart, and other organs.

A person with Marfan syndrome may have the following symptoms:

  • be tall and slim in comparison to others
  • have sagging joints
  • have concerns with their vision, heart, or other bodily functions

The signs and symptoms might be modest to severe. They can appear at any time and progress at different rates.Some people develop them as youngsters, while others do not become aware of them until they are adults. If severe symptoms appear early in life, Marfan syndrome can be fatal. Many patients, however, can expect to live a full life if they receive therapy. Marfan syndrome affects around one in every 3,000 to 5,000 people on the planet.

Marfan syndrome symptoms

Symptoms might emerge as early as infancy or as late as adulthood.
Some patients with the FBN1 mutation never show any signs or symptoms.
Some people experience only a few minor symptoms, while others have more severe symptoms.
They frequently worsen or progress as people get older.

System of the skeleton

This disorder manifests itself in various ways in different persons.
Your bones and joints show noticeable signs of the disease.

Symptoms that are visible include:

  • exceptionally tall height
  • slender fram long fingers and toes fingers that can’t be straightened out a long,
  • narrow face
  • long limbs broad,
  • flat feet
  • weak and flexible joints
  • an exceptionally small jaw
  • a high arch at the roof of the mouth
  • stretch marks not connected to scoliosis,
  • deep-set eyes
  • a curved spine, known as scoliosis

Marfan syndrome complications

Because connective tissue is important for the formation and function of numerous body parts, Marfan syndrome can affect the entire body.
The primary consequences, however, are related to the eyes and cardiovascular system.

Blood vessels and the heart

Your heart and blood arteries may be affected by Marfan syndrome.
The large blood channel that transfers blood from your heart, the aorta, can become weak and stretch.

This can result in:

  • an aortic aneurysm, which is characterised by a bulge in the aorta
  • leaking from the aorta rupture in the aorta, known as aortic dissection, which can occur suddenly leaking heart valves
  • heart failure due to congestive heart failure
  • Some of these alterations are potentially fatal.

The following are possible signs of cardiovascular issues in people with Marfan syndrome:

  • chest pains from lack of oxygen
  • chest discomfort,
  • weariness, and palpitations are all symptoms
  • irregular heartbeat or palpitations.

Eyes

Eye difficulties are common in people with Marfan syndrome. In one or both eyes, about six out of ten persons with this syndrome have “partial lens displacement.” If you have Marfan syndrome, you may be more prone to the following eye problems:

  • nearsightedness
  • cataracts
  • glaucoma lens
  • displacement
  • an unusually flat cornea
  • limited development of the iris, the coloured part of the eye
  • retinal detachment,
  • the light-sensitive cells at the back of the eye, known as the retina, pulls away from the blood vessels that supply it retinal detachment, where the light-sensitive cells at the back of the eye, known as the retina, pulls away from the blood vessels that supply it

Eye difficulties in people with Marfan illness should be treated because they can progress to visual loss.

Problems with the brain and spinal cord

The dura, the membrane that protects the brain and spinal cord, enlarges and weakens in some persons, causing dural ectasia.

  • The dura can place pressure on vertebrae in the lower back when it expands, resulting in:

abdomen ache back pain

  • leg numbness leg numbness leg numbness leg numbness leg numbness leg numb

Chest and lung problems

A person’s chest may be projecting or sunken.

Air may collect near the apex of the lungs in some cases, resulting in a collapsed lung.

Marfan syndrome causes and risk factors

Marfan syndrome is a hereditary condition.
People with a mutation in the FBN1 gene, which is involved in the formation of connective tissue, may experience symptoms. Marfan syndrome does not affect everyone who has this mutation. Changes in FBN1 can also promote excessive bone growth, resulting in lengthy limbs and substantial height.

Marfan syndrome is inherited in many cases. If one parent has a change on FBN1, there’s a 50% probability that any children they have will have it as well. Autosomal dominant transmission is the term for this type of transmission. However, there is no family history in at least 25% of cases. In some circumstances, either the sperm or the egg undergoes a spontaneous alteration.

Marfan syndrome can be diagnosed in a variety of ways.

Marfan syndrome does not have a test.

Prior to rendering a diagnosis, a doctor will normally undertake the following:

  • Examining any symptoms or traits,
  • as well as your family history
  • performing a physical exam using precise criteria to determine if you have Marfan syndrome.

A doctor will assign points for abnormalities like as scoliosis, flat feet, and aorta difficulties based on these criteria, known as the Ghent nosology.
The score will assist determine whether or not a person is at risk of developing Marfan syndrome.

Exams that are commonly given include:

  • Look for lower back disorders via an MRI, CT scan, or X-ray.
  • an echocardiography (ECG) to look for abnormalities in the aorta and heart valve problems
  • an electrocardiogram (ECG) to determine heart rate and rhythm an eye test to determine eye health
  • The doctor may recommend genetic testing to discover if a mutation in the FBN1 gene exists.
  • However, not everyone who has this mutation develops Marfan syndrome.
  • Even if the change is visible, it will not be enough to confirm a diagnosis.

Marfan syndrome treatments

Although there is no cure for Marfan syndrome, medication can help with the symptoms, which can be life-threatening in some cases.

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Symptoms of cardiovascular disease

Beta-blockers, such as propranolol or atenolol, can aid in the treatment of cardiovascular problems.
They can reduce the power and frequency of heart contractions, lowering the burden on the cardiovascular system.

A doctor will keep a close eye on them and may change the dosage over time. However, they may not be suitable for everyone, such as those suffering from depression or asthma. Angiotensin receptor blockers, such as losartan or irbesartan, are another possibility. They appear to assist some people with Marfan syndrome, but further research is needed.

  • An ECG should be performed at least once a year to evaluate heart health, according to experts.
  • Surgery may be required in some circumstances.
  • A doctor will probably advise the patient to avoid activities that put the heart under stress, such as weightlifting and contact sports.

Joints and bones

If you have skeletal issues such as scoliosis, your doctor may recommend an orthopaedic brace.

Surgery may be required for some patients.
They may do it for cosmetic reasons or if they believe there is a risk of medical complications.

Problems with the eyes

Regular eye exams can aid in the detection and correction of visual issues.
A checkup should be done at least once a year, according to experts.

Interventions that could be used include:

  • In some circumstances, wearing eyeglasses with contact lenses surgery
  • A person with Marfan syndrome may need to avoid sports and activities like football or boxing that pose a risk of head trauma.
  • If their work or other activities put them in danger, they should put on protective gear.

Other issues to consider

According to statistics, people with Marfan syndrome are more likely to have:

  • Pain affects 42 to 92 percent of people.
  • People with physical activity limits have diminished endurance, according to a reliable source of people with the condition.
  • Anxiety and sadness are two conditions that affect people.
  • All of these things can have an impact on a person’s quality of life.

Marfan syndrome is a congenital disorder that affects outlook

Cardiovascular issues, particularly those involving the aorta, might shorten a person’s life expectancy if they have Marfan syndrome.

However, doctors now know that getting treatment for these issues and avoiding activities that aggravate them, such as contact sports, can lower the likelihood of a life-threatening occurrence.A person with Marfan syndrome might expect to live for 32 years on average in 1972. The average longevity had climbed to 72 years by 1993.

As a result, if you have Marfan syndrome, it’s critical that you get treatment and attend all follow-up appointments. Before becoming pregnant, anyone with Marfan syndrome and an enlarged aorta should consult a doctor, as pregnancy may increase their risk

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Severe cardiac problems from a reliable source.

Marfan syndrome prevention

There is no cure for Marfan syndrome.

If you have this illness or know you have a mutation in the FBN1 gene, you should seek genetic counselling to learn more about the chance of having a child with the syndrome. Experts believe these cases occur from conception, despite the fact that 25% of cases are not inherited.
There is nothing a parent or individual can do to stop the genetic alteration. However, people can lower their risk of major complications by seeking medical help when they have a problem and going to frequent checks as recommended by their doctor.

Summary

Marfan syndrome is a hereditary disorder that damages connective tissue, which is responsible for the formation of skin, bones, blood vessels, the heart, and other critical organs. A person with this disease may have uncommon physical characteristics, such as long bones, which cause them to be taller or have longer limbs than others.
They’re also more likely to have cardiovascular difficulties, vision problems, and other health problems. Although Marfan syndrome cannot be prevented, treatment can significantly improve the length and quality of a person’s life if they have it.

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