Thursday 20 April 2017

💪 PREVENTION IS BETTER THAN CURE 💪




introduction
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.The degree to which people are affected varies. People with Marfan tend to be tall, and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis.Marfan is an autosomal dominant disorder. About 75% of the time the condition is inherited from a parent while 25% of the time it is a new mutation. It involves a mutation to the gene that makes fibrillin which results in abnormal connective tissue.


Clinical manifestations
Some signs are easy to see
Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:
  • ·         Long arms, legs and fingers
  • ·         Tall and thin body type
  • ·         Curved spine
  • ·         Chest sinks in or sticks out
  • ·         Flexible joints
  • ·         Flat feet
  • ·         Crowded teeth
  • ·         Stretch marks on the skin that are not related to weight gain or loss

Other signs are harder to detect

Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.









Wednesday 5 April 2017

Inheritance pattern

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family



Tuesday 4 April 2017

Complications

Heart and Blood Vessel Complications
The most serious complications of Marfan syndrome involve the heart and blood vessels.Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm.

Eye Complications
Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.

Nervous System Complications
Fluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can stretch and grow weak.
Lung Complications
Marfan syndrome can cause sudden pneumothorax (noo-mo-THOR-aks), or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse.

Thursday 23 March 2017

Diagnosis
Medical and Family Histories
Your doctor will ask about your medical history and your family's medical history. For example, your doctor may ask whether:
  •  You've had heart disease, eye problems, or problems with your spine. These complications are common in people who have Marfan syndrome.
  •  You have shortness of breath, palpitations, or chest pain. These are common symptoms of heart or lung problems linked to Marfan syndrome.
  •  Any of your family members have Marfan syndrome, have died from heart problems, or have died suddenly.

Physical Exam
During the physical exam, your doctor will look for Marfan syndrome traits. For example, he or she may check the curve of your spine and the shape of your feet. Your doctor also will listen to your heart and lungs with a stethoscope.
Diagnostic Tests
Your doctor may recommend one or more of the following tests to help diagnose Marfan syndrome.
Echocardiography
Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart and blood vessels.
This test shows the size and shape of your heart and the diameter of your aorta or other blood vessels. (The aorta is the main artery that carries oxygen-rich blood to your body.) Echo also shows how well your heart's chambers and valves are working.
For people who have Marfan syndrome, echo mainly is used to check the heart's valves and aorta.
Magnetic Resonance Imaging and Computed Tomography Scans
Magnetic resonance imaging (MRI) is a test that uses radio waves and magnets to create detailed pictures of your organs and tissues. Computed tomography (CT) uses an x-ray machine to take clear, detailed pictures of your organs.
MRI and CT scans are used to check your heart valves and aorta. These scans also are used to check for dural ectasia, a nervous system complication of Marfan syndrome.
Slit-Lamp Exam
For this test, an ophthalmologist (eye specialist) will use a microscope with a light to check your eyes. A slit-lamp exam can find out whether you have a dislocated lens, cataracts, or a detached retina.
Genetic Testing
In general, genetic testing involves blood tests to detect changes in genes. However, because many different genetic changes can cause Marfan syndrome, no single blood test can diagnose the condition.
Ghent Criteria

Because no single test can diagnose Marfan syndrome, doctors use a set of guidelines called Ghent criteria to help diagnose the condition. The Ghent criteria are divided into major criteria and minor criteria. Sometimes genetic testing is part of this evaluation.

Monday 13 March 2017

Treatment
While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome rarely lived past 40. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.
Medications
Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force. Losartan (Cozaar), a newer blood pressure medication, also is useful for protecting the aorta.

Therapy
A dislocated lens in your eye can be treated effectively with glasses or contact lenses that refract around or through the lens.
Surgical and other procedures


Ascending aortic root aneurysm procedure
Depending upon your signs and symptoms, procedures might include:
·         Aortic repair. If your aorta's diameter enlarges quickly or reaches about 2 inches (5 centimeters), your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Your aortic valve may need to be replaced as well.
·         Scoliosis treatment. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. If the curve in your child's spine is too great, your doctor may suggest surgery to straighten the spine.
·         Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered to be for cosmetic purposes, your insurance might not cover the costs.
·         Eye surgeries. If parts of your retina have torn or come loose from the back of your eye, surgical repair is usually successful. If you have cataracts, your clouded lens can be replaced with an artificial lens.

Sunday 12 March 2017

Where can people find additional information about Marfan syndrome?

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearing House
National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
Phone: 301-495-4484 or 877-22-NIAMS (877-226-4267)
TTY: 301-565-2966
Fax: 301-718-6366
E-mail: niamsinfo@mail.nih.gov
Website: www.niams.nih.gov