What is Marfan's Syndrome?
(Also known as MFS)
Marfan’s syndrome deals with defective connective tissue.
Connective tissue holds the body together and is a mold for growth and development. It affects the skeleton, eyes,
heart and blood vessels, nervous system, skin, and lungs. The reason why Marfan’s affects so many parts
of the body is because connective tissue is found in many places throughout the body.
How is Marfan's passed on genetically?
It is inherited as an autosomal dominant
trait. This means that one copy of the altered gene in each cell is enough to
inherit the disorder. Some cases of MFS come from a new mutation in the FBN1
gene, this occur in people that have no family history of the disorder. Some
scientists believe that a few of Marfan’s syndrome cases are caused by mutations in the TGFBR2 gene. These mutations are called Marfan syndrome type 2.
How
does it affect the victim?
Skeleton-If it affects their skeleton they are usually taller than their family, thin,
loose –jointed, roof of their moth is arched, and have a longer, slim face. The
disease affects the long bones of the skeleton, so there limbs and toes could be in disproportion from their body. Other characteristics are a indented breastbone, curved spine, and flat feet.
Eyes-Most people with Marfan’s have a dislocation of one or both eye lenses. The eye lenses may not be in the right spot. Other problems
they could have are they could be nearsighted, have early glaucoma (high pressure within the eye), or cataracts. (Eye lens
lose of its clearness).
Cardiovascular System-Many with Marfan’s have problems with their
heart and blood vessels. The left valve in the chamber of the heart can be defective:
large and floppy. This causes irregular valve motion when the heart beats. Other problems that could occur are a valve may leek which is called a “heart
murmur”. If the leak gets or is larger this could cause shortness of breath,
fatigue, or a fast or irregular heart rate. Aortic dilation could also happen
if so the aorta (big artery that carries blood from the heart to the rest of the body) will tear resulting in serious heart
problems or sometimes sudden death.
Nervous System-The dura is a membrane that contains fluid that surrounds the spinal cord and brain.
When those who have Marfan’s get older their dura often weakens and stretches, and then begins to wear away the
bone surrounding the spinal cord, this is called dural ectasia. Dural ectasia
causes abdomen pain or numbness or weakness of the legs.
Skin- At any age, even if there is no weight change or pregnancy, they get stretch marks on
their skin. These marks are no unhealthy and there is no treatment for them. The marks appear on stressful spots such as the shoulders, hips, and lower back. Another risk is them getting an abdominal hernia; this is when a bulge develops that
contains parts of the intestines. This does involve medical treatment.
Lungs- One affection of the lungs is restrictive lung disease which 70 percent of people with Marfan’s have. There is also Marfan fibrillin (fibrillin-1 deficiency) because of fibrillin that
is expressed in the lung that is associated with elastin. Collapse of the lung
in the absence of trauma or spontaneous pneumothorax is a result of fibrillin-1 deficiency.
Snoring and sleep apnea are sleeping disorders that are related with Marfan’s syndrome also.
Emotional/Psychological Affects:
First off, being diagnosed with any genetic disorder can cause stress. This stress can be financial, emotional, and social.
Many who have MFS are scared that they will pass it on to their children and future generations or that if will affect
their relationships or career. Things that help this is good medical care, genetic counseling, and social support.
Who
can it affect?
MFS can affect all races and ethnic background. This includes men, women, and
children of all ages
What
are the treatment options?
There is no cure for
MFS. Though there are many treatment options that can minimize and sometimes
prevent symptoms or complications. Marfan syndrome is a life-long, progressive,
and chronic disease. With early diagnosis, their life span can be the same length
of a normal person.
Skeletal -The patient needs
to have annual check ups on their spine and/or breastbone especially if they are growing quickly. If there is a severe deformity it not only disfiguring, but also could stop the heart and lungs from functioning
the right way. Sometimes an orthopedic brace or surgery may be needed.
Eyes-Again, annual examinations are needed to finding and correcting
any vision/eye problems. Usually eyeglasses or contacts will fix the problem,
but sometimes surgery may be needed.
Heart and blood vessels-Promblems with
the heart and blood vessels are the most threatening. Check-ups and echocardiograms
(a type of ultra-sound test) are necessary for the doctor to see the size of the aorta and how the heart is working. The sooner problems are discovered the lower the chance of having life-threatening
complications. If they do have cardiovascular problems they are encouraged to
wear a medical alert bracelet and to go to the emergency room if they fell any chest, back, or abdominal pain. Drugs like
beta-blockers help decrease stress on the aorta can be taken for some heart valve problems.
In some cases surgery needs to be done on the aorta(to repair it or to replace a valve), but it must be done before
the aorta becomes a size that could cause tear or rupture. If this surgery does happen care must be taken to prevent edocarditis
which is the inflammation of the lining of the heart cavity and valves.
Nervous system - Medication may help decrease pain from dural ectasia which is the sweeling
of the covering of the spinal cord.
Lungs - Signs of spontaneous pneumothorax which can be sudden chest pain, shortness
of breath, and/or dry cough though it is usually not life-threatening it requires immediate medical attention. It is also important that people with MFS do not smoke because they are already at a higher risk for lung
damage. All breathing problems related to sleep should be reviewed by a doctor.
Physical Activity and Exercise–Because people with Marfan’s
are often tall and agile people esasily encourage them to compete in sports. They
do not know how dangerous that it can be for them. It is dangerous because their
weakness in blood vessels, problems with heart valves, eyes and skeleton. Sports
and activities should be decided based on the person’s problems/complications.
Diagnosis:
There is no straightforward blood test or skin biopsy to tell
if a person has MFS. The diagnosis cannot be made until the person has gone through
many examinations by many doctors including an orthopedist (specializes in bones), ophthalmologist (eyes), cardiologist (heart),
and a medical geneticist (knowledge about inherited diseases). The examinations
include: information about gamily mebers who have previously had the disorder
or had an unexplained heart-related death, a very thorough physical examination (including an evaluation of the skeleton from
ratio of arm/leg size to trunk size and other changes that affect bones and joints)
, eye examination, and heart tests. If
the person has a family history of the condition and there are at least two body systems that affected then the doctor can
make the diagnose for MFS. If the patient has no family history then at least
three body systems must be affected for a diagnosis. Plus two of the systems
must show apparent physical signs that are related to Marfan syndrome.
A
genetic test may be able to detect the specific mutation to decide if other family members are affected.
Donation Information:
People with Marfn's have many issues, the disorder affects
so many parts of their body. We need donations because of this and there is no cure found yet. To donate call 1-800-453-3432
or mail us at 1234 River Road St. Louis, MO 73890.
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