Marfan Syndrome — Know It All!
All you need to know about Marfan Syndrome.
Know your ailment well, so you can manage it better!!
Here we come with Marfan Syndrome today!
Marfan syndrome is a genetic disease that affects the proteins that keep the connective tissue healthy. This leads to problems with connective tissue production which supports your body’s bones , muscles, organs , and tissues. Marfan syndrome is caused by mutations (changes) to a particular gene and most people inherit the condition from their parents.
Marfan syndrome symptoms can be mild to severe, and may vary because the disorder can affect various areas of the body, including:
Skeleton which contains bone and connective tissue such as ligaments , tendons and cartilage.
- Skeleton, which includes bone and connective tissues such as ligaments, tendons, and cartilage.
- Heart and blood vessels, including veins, arteries, and valves inside the heart.
Treatment varies depending on the region of the affected body, which can include medicines, other medications, which surgery to control the disease and its complications. Research and advancements in therapies and procedures allow long , healthy lives for people with Marfan syndrome.
What happens in Osteogenesis imperfecta:
Everyone has a protein called fibrillin-1, which makes the connective tissue elastic fibres. Often, fibrillin-1 influences another protein in your body, changing the growth factor-beta (TGF-beta), which helps regulate how your body develops and develops. People with Marfan syndrome inherit a gene mutation that affects how fibrillin-1 is used in the body, leading to excess growth factors that cause:
- Tissues in blood vessels, the heart, ligaments, tendons, and cartilage to stretch more, making them weak.
- Overgrowth of bones, making them longer than usual.
Who gets the disease:
Marfan syndrome may occur to men , women, and infants. It can be found in people of every race and ethnic background.
Symptoms of Osteogenesis Imperfecta :
Marfan syndrome symptoms vary from person to person, since connective tissue is found throughout the body. Some may have mild symptoms, or only a few, while others may have more severe issues. Symptoms may include:
- Abdominal pain.
- Arms, legs, fingers, and toes that are much longer in relation to the rest of the body.
- Chest that caves in or sticks out.
- Curvature of the spine.
- Flat feet.
- Heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.
- Highly arched mouth that can lead to crowding of teeth.
- Loose joints.
- Long, narrow face.
- Low back pain and numbness in the legs.
- Shortness of breath due to changes in the lungs or heart.
- Stretch marks on the skin.
- Vision changes, such as blurry vision and extreme nearsightedness.
Because Marfan syndrome affects different areas of the body, other problems and complications can develop, including:
- Aneurysm of the aorta, which happens when the wall of the aorta weakens and bulges. It is a life-threatening emergency if the wall of the aorta ruptures.
- Cataracts, which are cloudy areas in the lens of the eye.
- Dural ectasia, which happens when the tissue that wraps and protects the spinal cord and brain stretches and weakens.
- Ectopia lentis, which happens when the lens of the eyes shifts, leading to changes in vision.
- Glaucoma, a group of eye diseases that can cause vision loss and blindness by damaging a nerve in the back of your eye.
- Heart valve leaking, which happens when one of the valves inside the heart is not working properly. If the leak is significant, it can make your heart work harder and affect its ability to pump blood.
- Hernia in the abdomen, which happens when tissue pushes through the weakened wall of the abdomen.
- Pneumothorax, which happens when a section of the lung collapses because the alveoli (tiny air sacs in the lungs) burst.
- Retinal detachment, which happens when the retina is pulled away from its normal position at the back of the eye.
- Sleep apnea, which happens when the upper airway becomes blocked during sleep, leading to breathing that starts or stops.
- Weakened or stretched aorta, which is the large artery that carries blood from the heart to the rest of the body. Damage to the aorta increases the risk for serious heart problems or even sudden death.
Marfan syndrome is caused by a mutation or modification in the gene fibrillin-1 (FBN1). People with Marfan syndrome inherit a normal copy of the FBN1 gene from their parents as well as an abnormal copy of FBN1. The abnormal copy of the gene over the normal copy of the gene is stronger or “dominant” and causes Marfan syndrome. This is dominant inheritance mode. A person with a dominant mutation has a chance of passing the disorder on to each of his or her children by 50 percent (1 in 2).
Some children are born with the syndrome although the disorder has no family history due to a new mutation in the FBN1 gene.
The syndrome of Marfan affects men and women alike and occurs among all races and ethnic groups. Since it’s a genetic condition, having a parent with the disorder is the biggest risk factor for Marfan syndrome.
Because Marfan syndrome can affect virtually every part of your body , it can cause a wide range of complications.
- Cardiovascular Complications:
Marfan syndrome’s most dangerous complications relate to the heart and blood vessels. The aorta can be weakened by faulty connective tissue — the large artery that arises from the heart and supplies blood to the body.
They also includes:
Aortic aneurysm,Aortic dissection,Valve malformations
- Eye Complications:
Complications including Lens dislocation, Retinal problems, Early-onset glaucoma or cataracts might also be observed.
- Skeletal Complications:
Marfan syndrome raises the risk of irregular spine curves, for example scoliosis. It can also interfere with normal rib growth and can either cause the breastbone to protrude or appear sunken in the chest. Marfan syndrome is common in foot pain and low back pain.
- Pregnancy Complications:
Marfan syndrome may weaken the aorta ‘s walls, the principal artery that leaves the heart. A woman’s heart pumps more blood than normal during pregnancy and this may place extra stress on a woman’s aorta — which raises the risk of a deadly dissection or rupture.
No single test can diagnose Marfan syndrome. Instead, to diagnose the disorder, your doctor may:
- Ask about your family and medical history, specifically about any family members with the disorder or who had an early, unexplained, heart-related death.
Perform a physical examination, which can include:
- Measuring how long your arms and legs are in proportion to your trunk.
- Examining your eyes.
- Listening to your heart and lungs.
Order diagnostic testing to evaluate heart, lungs, and eyes that may include:
- CT scan or MRI of the chest to check your heart, lungs, and surrounding tissues.
- Echocardiography to evaluate the heart structure, valves inside the heart, and the blood vessels around the heart.
Order testing to rule out other conditions that may be causing your symptoms.
In most cases genetic testing is helpful in detecting the mutated gene that causes Marfan syndrome.
Marfan syndrome has no cure; instead, physicians concentrate care to alleviate symptoms and avoid any problems or complications. Treatment depends on the body region affected by the condition and can include drugs, other therapies, and surgery.
- Betablocker or angiotensin receptor blockers to help manage problems with your heart. These medications can help your heart beat with less force and more slowly.
- Anti-inflammatory and pain medications.
- Braces to help keep curves in the spine from getting worse.
- Glasses or contacts to help correct vision problems.
Occupational or Physical therapy:
Physical or occupational therapy to help you strengthen muscles and manage orthopaedic problems and complications.
- Reduce the emotional tension that can increase the blood pressure or heart rate, if possible.
- Evicting heavy exertion or interaction with physical and sports activities. Encouraging mild to moderate physical activity, such as swimming, walking and cycling, so you can set your own speed. Speak to your doctor before you undertake any exercise programme.
Any individuals with Marfan syndrome will require surgery to correct any issues or complications that may arise. Surgeries may include:
- Orthopedic surgery to correct more serious problems with the skeleton and sternum.
- Eye surgery to treat some complications, including a retinal detachment and cataracts.
- Cardiovascular surgery to correct problems with the heart, blood vessels, or lungs.
How to Cope up:
Treatment and living with, and complications of, Marfan syndrome is a lifelong operation. However, advancements in treatment allow long, stable lives for people with the condition. The following tips will help you treat your condition:
- Ask your doctors how often you should schedule follow-up visits. Regular visits are important in managing Marfan syndrome and preventing complications. The visits may include regular eye exams, image tests to check for heart and lung problems, and an evaluation of your skeleton and growth.
- Reach out for support. Talk to your family and friends about the disorder and your feelings. Consider joining a community or online support group.
- Seek counseling or talk to a health care professional if you feel depressed or anxious about Marfan syndrome and its effects on your body.
- Eat a healthy well-balanced diet rich in fruits, vegetables, and whole grains.
- Consider wearing medical identification to notify providers about your condition during an emergency.
- If you smoke, quit. Smoking can have a negative impact on both your bone and lung health.
Women with Marfan syndrome can experience healthy pregnancies. The pregnancy is high risk, however, because it can bring tension to the heart. If you are considering getting pregnant, speak with your doctor. Planning helps doctors to handle complications during birth in order to keep both mom and baby well.
Gopala Krishna Varshith,
Content Developer & Editor,