Marfan syndrome definition and facts*
Syringomas on the Eyelids of a Marfan Syndrome Patient. Marfan syndrome affects different people in different ways. The body systems most often affected by the syndrome are the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Image Source: Color Atlas of Pediatric Dermatology Samuel Weinberg, Neil S. Prose, Leonard Kristal Copyright 2008, 1998, 1990, 1975, by The McGraw-Hill Companies, Inc. All rights reserved.
*Marfan syndrome facts medical author: William C. Shiel Jr., MD, FACP, FACR
- Marfan syndrome is a disease of connective tissues that are inherited.
- The severity of Marfan syndrome varies from one individual to another and it typically progresses over time.
- A tall, slender build is characteristic of Marfan syndrome.
- Marfan syndrome affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and respiratory system.
- Marfan syndrome can cause dislocation of the lens of the eye and detachment of the retina, resulting in vision loss in patients with the condition.
- The child of a patient with Marfan syndrome has a 50% chance to have the disease.
- Mitral valve prolapse is common in patients with Marfan syndrome.
- Abnormal aortic dilation (aortic aneurysm) can be a serious manifestation of Marfan syndrome.
- The syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue.
- There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history and examination.
- There is no cure for Marfan syndrome. However, a range of treatment options is designed to minimize and prevent complications.
Marfan Syndrome: Aortic Dissection Warning Signs and Symptoms
Aortic dissection is one of the risks for people with Marfan syndrome. Symptoms of aortic dissection are:
- Shortness of breath
- A ripping or tearing pain in the chest
What do some of the characteristics and symptoms of Marfan syndrome look like (pictures)?
Picture of Syringoma, a Symptom of Marfan Syndrome.
Image Source: Color Atlas of Pediatric Dermatology Samuel Weinberg, Neil S. Prose, Leonard Kristal Copyright 2008, 1998, 1990, 1975, by The McGraw-Hill Companies, Inc. All rights reserved.
One characteristic or symptom of Marfan syndrome is skin tumors, called syringomas. Syringomas occur most commonly around the eyes and eyelids, but other areas of the body can be affected.
What is Marfan syndrome?
Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including:
- Bones, ligaments, tendons, and cartilage.
- Organs, eyes, heart and blood vessels, nervous system, and lungs.
Who gets this syndrome?
Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds.
What are the signs and symptoms of Marfan syndrome?
The symptoms of Marfan syndrome vary from person to person because connective tissue is found throughout the body. Some people have mild or just a few symptoms, while others can have more serious problems. Symptoms may include:
- Abdominal pain.
- Arms, legs, fingers, and toes that are much longer in relation to the rest of the body.
- The chest that caves in or stick out.
- Curved spine.
- Flat feet.
- A heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.
- A 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.
What causes Marfan syndrome?
A mutation or change in a gene causes Marfan syndrome. Most people inherit the changed gene from their parents, but some children are born with the syndrome, even though there is no family history of the disorder. This is caused by a new change in the gene.
Are there tests to diagnose Marfan syndrome?
No single test can diagnose Marfan syndrome. To see if you have the disorder, your doctor may:
- Ask about your family and medical history.
- Perform a physical exam.
- Order blood and imaging tests.
- Order genetic testing to look for the changed gene that causes Marfan syndrome.
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How is Marfan syndrome treated, and can it be cured?
Although there is no cure for Marfan syndrome, doctors use treatments to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include:
- Medications to help manage pain and problems with your heart.
- Other treatments, such as braces.
- Surgery to help correct problems with your bones or eyes.
What types of doctors or other health care professionals treat Marfan syndrome?
Health care providers who may treat Marfan syndrome include:
- Cardiologists, who treat issues with the heart.
- Cardiothoracic surgeons, who specialize in surgery of the heart, lungs, and other organs and tissues in the chest.
- Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
- Dental providers, such as orthodontists and oral-maxillofacial surgeons.
- Dermatologists, who specialize in conditions of the skin, hair, and nails.
- Mental health professionals, who provide counseling and treat mental health disorders, such as depression and anxiety.
- Nurse educators, who help you understand your condition and help start treatment plans.
- Occupational therapists, who teach how to safely perform activities of daily living.
- Ophthalmologists, who treat eye disorders.
- Orthopaedists, who treat bone problems.
- Pediatricians, who diagnose and treat children.
- Physical therapists, who teach ways to build muscle strength.
- Primary care doctors, such as family physicians or internal medicine specialists, who coordinate care between the different health providers and treat other problems as they arise.
- Pulmonologists, who treat lung problems.
Living with Marfan syndrome
Treating and living with Marfan syndrome, and its complications is a lifelong process. However, treatment makes it possible for people with the disorder to have long, productive lives. The following tips can help you manage the disorder:
- Ask your doctors how often you should schedule follow-up visits.
- 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 bone and lung health.
Women with Marfan syndrome can have healthy pregnancies. However, the pregnancy is high risk because it can add stress on the heart. If you are thinking about getting pregnant, talk to your doctor. Planning helps doctors treat problems prior to the pregnancy to keep both the mother and baby healthy.
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Where can people find additional information about Marfan syndrome?
U.S. Food and Drug Administration Toll free: 888-INFO-FDA (888-463-6332) Website: https://www.fda.gov
Centers for Disease Control and Prevention,
National Center for Health Statistics Website: https://www.cdc.gov/nchs
National Heart, Lung, and Blood Institute Website: https://www.nhlbi.nih.gov
National Human Genome Research Institute Website: https://www.genome.gov
U.S. National Library of Medicine, Genetics Home Reference Website: https://ghr.nlm.nih.gov/condition/marfan-syndrome#diagnosis
American Heart Association https://www.americanheart.org
March of Dimes https://www.marchofdimes.com
Marfan Foundation https://www.marfan.org
National Organization for Rare Disorders https://www.rarediseases.org
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