Marfan syndrome, Marfan syndrome - a unique one

Marfan syndrome – a unique one

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Overview:

If you have a perfectly functioning body, it’s a gift of God. But, there are many disorders emerging across the world because of changes in environmental and other factors. And for most factors, humans are a reason. So today, let’s gain knowledge about Marfan syndrome, its emergence and prevention

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What actually is Marfan syndrome?

Marfan syndrome hinders normal body growth as it’s an inherited connective tissue disorder. As known connective tissue serves as support for our organs and skeletal system.

Disorders in connective tissue like Marfan syndrome are serious conditions. As it can affect the entire body including eyes, heart, skeletal system, internal organs and skin.

Marfan syndrome’s physical characteristics noticeably are:

  • large and flat feet
  • Loose joints
  • Disproportionately long fingers
  • Being lanky and tall

It occurs among both men and women, of all races and ages. This syndrome is found in 1 among 5,000 people said Marfan foundation.

Causes of Marfan syndrome:

This syndrome is an inherited or genetic disorder. The defect genetically occurs in fibrillin-1, a protein that has a major role in the formation of connective tissue. This defect also results in overgrowth in bones causing significant height and long limbs.

From parent:

Offspring with one parent having Marfan syndrome has 50% to inherit it as it’s autosomal dominant transmissible.

Spontaneous genetic defect:

A spontaneous defect in genes of either sperm or egg can result in offspring with the disorder. Even if the parents are without Marfan syndrome.

According to studies, cases through spontaneous genetic defect is around 25% while the remaining cases are inherited from parents.

Complications that occur

A vast variety of complications arise as this syndrome can affect any part or organ of our body.

1.     Cardiovascular complications of Marfan syndrome

It’s the most hazardous complication as it involves blood vessels and the heart. Abnormal connective tissue weakens the aorta hindering the supply of blood to the body.

  • Aortic dissection. It occurs when a small tear in the innermost layer of the wall of the aorta paves way for blood to squeeze in between the outer and inner layers of the wall. Aortic dissection may result in rupture as it weakens the structure of the vessel which can be fatal.
  • Valve malformations. Patients with Marfan syndrome can have weak tissue in the valves of their hearts. This can lead to faulty valve function and stretching of the valve tissue. The heart frequently has to work more than normal when the valves don’t function properly. This eventually can lead to heart failure.
  • Aortic aneurysm. Aorta bulges out due to the pressure of the blood on the walls while leaving the heart. This is more likely to be seen at aortic root of patients with Marfan syndrome.

2.     Complications in Eye

  • Lens dislocation. If the structure that supports weakens, the lens that focuses within the eye moves out of place. Medically known ectopic lentils occur in more than 50% of people with Marfan syndrome.
  • Retinal problems. This syndrome hikes the possibility of rupture or detachment of the light-sensitive tissue, retina.
  • Early-onset glaucoma or cataracts. Marfan syndrome leads to eye problems at an early age. People with this syndrome develop Glaucoma and Cataract at a younger age.

3.      Skeletal complications of Marfan syndrome

The spine develops abnormal curves such as scoliosis resulting in lower back pain. Marfan syndrome interferes with the normal ribs development causing the breastbone to appear sunken into the chest or protrude.

4.     Pregnancy complications

Since the heart pumps more blood during pregnancy, it puts more stress on the aorta increasing the risk of deadly rupture.

Diagnosing Marfan syndrome

It is difficult to diagnose Marfan syndrome as many connective tissue disorder show the same symptoms and signs. However, a physician begins the diagnostic process by conducting physical exams and reviewing family history.

Genetic testing:

Mostly this confirms the syndrome. If Marfan mutation is found in an individual’s genes, the family members are tested to confirm the occurrence.

Genetic testing alone can’t be relied on, so 100% evaluation should be done. The other tests are

  • Computed tomography (CT), Magnetic Resonance Imaging (MRI) – diagnosis of lower back pain.
  • Echocardiogram – tear, enlargement or aneurysms in aorta
  • Electrocardiogram – check rhythm and rate of heart
  • Eye exams – Allows examining overall health of the eyes
    1. Eye pressure test (Gluacoma): Eyes are numbed with eye drops. Ophthalmologists measure the pressure inside the eyeball with the help of a special tool.
    2. Slit-lamp exam (cataract): Eyes are completely dilated with drops and checked for detached retina, lens dislocation, and cataracts.

Treatment for Marfan syndrome:

There is no complete cure for the disorder, but treatment is focused to prevent serious complications of the disease.  To accomplish you need to regularly get checked up for signs indicating its progress.

People with Marfan syndrome die at a young age but with modern treatment, most are surviving with a normal life span.

Medications:

Drugs that lower blood pressure is prescribed to prevent enlarging of the aorta.

Therapy for complications of Marfan syndrome:

Vision problems due to the dislocated lenses can be corrected with contact lenses and glasses.

Surgical and other procedures:

Depending on your signs and symptoms, procedures might include the following

  • Treatment for Scoliosis: Need Bracing and surgery to correct. It is successful.
  • Eye surgeries: In presence of cataracts, the clouded lens is removed and replaced with an artificial lens. When parts of the retina are torn or become loose from the back of the eye, surgical repair helps.
  • Corrections in Breastbone: For sunken or protruding breastbone surgical options are available but quite expensive.
  • Aortic repair: A portion of the aorta is replaced with a synthetic tube when its diameter rapidly enlarges and reaches about 2 inches. This prevents life-risking rupture.

Conclusion:

The patients have a shorter life span because of possible risks related to the spine, lungs, and heart. But, effective treatments and regular visits can help people with Marfan syndrome to survive for the 70s and above. It’s dangerous to participate in sports and lift heavy objects with issues in the skeletal system, heart and vision. So, it’s better to avoid them.

I hope you learned something useful for better health. Remember to just be thankful for the breath you have and make the best out of it with positivity!

 

 

 

Author Profile

Rini Esther
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Rini Esther
Hey all! This is Rini Esther and is a medico. I'm here to share knowledge that might help you and your loved ones to have a healthy lifestyle. I'll try my best to give reliable, genuine, and understandable content. Excited to serve you in this unique way!

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