Marfan Syndrome – Symptoms and Treatment

Marfan syndrome is genetic in nature and afflicts connective tissues.  Connective tissues are primarily responsible for holding the body together.  They also provide the framework for growth and development.  When a person has the disease, the connective tissue is faulty and not functioning as well as it should.  And because connective tissues are located in various parts of the body, the disease can affect as many parts of the body.

Marfan syndrome can affect anyone – women, men, and children – regardless of race and ethnic background.  In the US alone, it is estimated that one for every 5,000 citizens has the disorder.

Symptoms

Some patients manifest only mild symptoms while others show more severe cases.  In many instances, the symptoms develop as the patient ages.  Following are the most commonly affected parts of the human body:

  • Skeleton – People affected by the disease may be unusually tall, slim and loose-jointed.  Since the disease affects the longer bones, the patient’s arms, legs, toes, and fingers may be disproportionate to the rest of the body.
  • Eyes – More than 50% of patients may experience lens dislocation in either or both of the eyes.  It may be minimal but it can sometimes be obvious and pronounced.
  • Cardiovascular System – People with Marfan syndrome usually experience heart problems or disorders in the blood vessels.
  • Nervous System – The spinal cord and the brain are surrounded by fluids contained in the membrane dura, which is composed of connective tissues. As the patient ages, the dura weakens and stretches resulting to pressure on the vertebrae and wearing away of the bones around the spine.
  • Skin – People with the disease, even in the absence of weight changes, develop stretch marks.  This can happen at any age but poses no health hazards.

Causes

Marfan syndrome usually starts from a mutation or defect in the genes.  An afflicted person is born with the disorder although it may only be diagnosed later in the person’s life.

The defective gene that causes the disease may be inherited.  An offspring has a 50% chance of getting the disease.  It is also possible for two people who are not affected by the disease to have a child with the syndrome.  This usually happens when a new gene defect happens during the development of the egg or sperm cells.

Diagnosis

There is no particular lab test that can accurately diagnose Marfan syndrome.  The doctor or geneticist relies mainly on observation and a reading of the complete medical history including: data on any past occurrences in the family;  thorough physical exam that includes evaluation of the skeletal frame to determine extremity – trunk ratio; eye examination that includes a slit lamp evaluation; heart tests such as ECG.

Treatment

Since the disease affects numerous parts of the body, the patient must be given attention by the appropriate specialist.

There is actually no known cure for Marfan syndrome.  Scientists are still trying to find a way to effectively eliminate the disease.  However, there are many treatment options available that can minimize, and in most cases, prevent complications from happening.


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  1. Hi! My name is heather & i was just reading ur article & it made me cry. I shouldn t of been so clueless & maybe tried alot harder 2 get answers. I live in texas & have 4 kids.Out of the 4 kids 2 have health problems! My 2nd child will be 11yr in oct. We call her nana & she has been 2 countless hospitals & seen doctor after doctor,since birth. I have yet 2 find anyone 2 help her & it breaks my heart not being able 2 help my child. When i seen this article, i started 2 cry, because it describes nana 2 a t. She is 6’2 200lb & still growing. At birth she was 7lb 21in. I noticed her feet were long, flat & turning in a little. Doctor said i was crazy even though her feet are way worst. Also i believe she is growing way 2fast. She already has trouble with her vision due 2 1 of the lens dislocating years ago. Trouble keeping her balance at times, legs hurt often & give out.My ? 2 u is! Is there sum1 i can call or a hospital that specialize in marfan cases i can take her 2?Thank u 4ur time! !I hope 2 hear from u!

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