Medication
The marfan syndrome is a heritable generalized disorder of connective tissue in which life expectancy is greatly reduced. Despite the high risk for marfan related cardiovascular problems, the average life expectancy of those with marfan syndrome is nearly 70 years.
Procedures
Treatment - Marfan syndrome
- Skeletal problems. Skeletal problems that develop as a result of Marfan syndrome can sometimes cause significant pain and discomfort.
- Heart problems. Marfan syndrome can cause serious heart problems, which can be fatal. ...
- Eye problems. ...
- Psychological support. ...
- Lifestyle. ...
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Here are some more important facts about Marfan Syndrome to consider. 1. Anyone Can Be Born With Marfan Syndrome. This genetic disorder does not discriminate at all. Men and women are born with Marfan Syndrome equally and it affects all racial and ethnic demographics equally as well.
Does Marfan syndrome affect life span?
Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Your doctor may want to measure your arm span if he or she thinks you might have the disorder.
Are there any treatments for Marfan syndrome?
Can anyone be a candidate for Marfan syndrome?
Is Marfan syndrome a genetic disease or not?
Can you fix Marfan syndrome?
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.
Can you survive Marfan syndrome?
There is currently no cure for Marfan syndrome. Depending on which body parts are affected and to what degree, regular monitoring and treatment options may include: lifestyle changes. regular echocardiogram tests to monitor heart and aorta size and function.
How long does Marfan syndrome last?
People who are properly diagnosed, adapt their lifestyle, and receive appropriate medical and surgical management can live a normal life span (into the 70s). However, there are no guarantees, and having Marfan syndrome does not mean you might not acquire other conditions that are common in the aging population.
How is Marfan syndrome treated?
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.
How fatal is Marfan syndrome?
The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
Does marfans affect the brain?
These vascular abnormalities can be a cause of cerebral and spinal ischemia or hemorrhage. Indeed, ischemic events involving the brain or spinal cord are estimated to occur in 10% to 20% of patients with Marfan syndrome.
Can you live long with marfans?
One in 10 patients may have a high risk of death with this syndrome due to heart problems. Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years. The life expectancy in this syndrome has increased to greater than 25% since 1972.
Can you have mild Marfan?
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms. Typical characteristics of Marfan syndrome include: being tall. abnormally long and slender limbs, fingers and toes (arachnodactyly)
What age is Marfan syndrome usually diagnosed?
Study Patients. Their ages when the Marfan syndrome was first diagnosed ranged from 32 to 72 years (mean age, 46 years). Of these 28 patients, 7 were older than 50 years of age at the time of initial diagnosis.
What is the average height of someone with Marfan syndrome?
Mean length at birth was 53 +/- 4.4 cm for males and 52.5 +/- 3.5 cm for females. Mean final height was 191.3 +/- 9 cm for males and 175.4 +/- 8.2 cm for females.
Does Marfan syndrome shorten your life?
Data reported in 1972 indicated that lifespan in patients with the Marfan syndrome is markedly shortened, and that most deaths are cardiovascular.
Does Marfan syndrome get worse with age?
Marfan syndrome is a progressive disorder, which means that features can worsen as a person ages. Still, as awareness has grown and treatments have improved, people with Marfan syndrome and related disorders can now reasonably expect to live a lifespan comparable to the general population.
What is the quality of life for someone with Marfan syndrome?
To the Editor: Few studies have evaluated quality of life (QOL) in patients with Marfan syndrome (MFS). Most patients with MFS are dissatisfied with their self-image, report low self-esteem, and express difficulty coping with the ramifications of their condition.
What is Marfan syndrome?
Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage.
What causes Marfan syndrome?
Marfan syndrome is rare, happening in about 1 in 5,000 people. 1 Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. 1, One in four people with Marfan syndrome develops the condition for unknown reasons.
How is Marfan syndrome diagnosed?
Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems.
How is Marfan syndrome treated?
Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications:
What is Marfan syndrome?
Marfan syndrome is a rare genetic disorder of the connective tissue, affecting the skeleton, lungs, eyes, heart and blood vessels. The condition is caused by a defect in the gene that tells the body how to make fibrillin-1, often from a parent who is also affected. One quarter of cases may be the result of a spontaneous gene mutation.
What medical problems are associated with Marfan syndrome?
Marfan syndrome primarily affects the cardiovascular and skeletal systems. People with the condition may also have vision problems; many are near-sighted, and about 50 percent suffer from dislocation of the ocular lens.
What are the risk factors of Marfan syndrome?
The only known risk factor is having a parent with Marfan syndrome, as this is a condition that is most often inherited. A person with Marfan syndrome has a 50 percent chance of passing along this condition to each child. However, one out of every four people with Marfan syndrome also acquire the condition due to a spontaneous genetic mutation.
How is Marfan syndrome diagnosed?
People with Marfan syndrome exhibit different combinations of symptoms. Because symptoms of the condition overlap with other related connective tissue disorders, it is vitally important that your physicians be knowledgeable about Marfan syndrome. Tests include:
How is Marfan syndrome treated?
There is currently no cure for Marfan syndrome; however, careful management of the condition can improve a patient’s prognosis and lengthen the life span. The advances in medical and surgical management of children and adults with Marfan syndrome have resulted in high- quality, productive and long lives.
Additional Resources for Marfan Syndrome
For more information about Marfan syndrome, please visit The Marfan Foundation.
Marfan Syndrome Signs & Symptoms
Marfan syndrome symptoms can range from very mild to severe and life-threatening. In most people with the disorder, symptoms worsen with age. Common Marfan syndrome symptoms include: ( 5, 6)
Causes & Risk Factors
Marfan syndrome is caused by a mutation (change) in the gene that makes fibrillin-1, a protein in connective tissue. When there is a problem with the protein, it changes how the body’s connective tissue grows and holds cells together in the bones, eyes, blood vessels and organs. These changes cause the symptoms of Marfan syndrome.
Prevention
There is no true way to prevent Marfan syndrome, although you may be able to prevent some symptoms or complications of the disease by getting early and frequent treatment.
Precautions
Do not attempt to self-diagnose Marfan syndrome. Symptoms of this disorder can be similar to those of other hereditary collagen disorders. Treatments can be optimized when the diagnosis is correct.
Marfan Syndrome Key Points
Marfan syndrome is a genetic disorder that impacts the body’s connective tissue. It often results in a tall, thin frame, long arms and legs, long fingers and toes, problems with the heart and growth problems with the breastbone and spine.
What is Marfan syndrome?
Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems.
What are the symptoms of Marfan syndrome?
The most common symptom of Marfan syndrome is myopia (nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye). About 60 percent of individuals who have Marfan syndrome have lens displacement from the center of the pupil (ectopia lentis).
How is Marfan syndrome diagnosed?
The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the presence of characteristic clinical findings in ocular, skeletal and cardiovascular systems. There are four major clinical diagnostic features:
What is the treatment for Marfan syndrome?
Individuals who have Marfan syndrome are treated by a multidisciplinary medical team that includes a geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon.
Is Marfan syndrome inherited?
Marfan syndrome is inherited in families in an autosomal dominant manner. Approximately seventy-five percent of individuals who have Marfan syndrome have a parent who also has the condition (inherited). Approximately 25 percent of individuals who have Marfan syndrome, have the condition as a result of a new (de novo) mutation.
What are the signs and symptoms of Marfan syndrome?
Syringomas on the Eyelids of a Marfan Syndrome Patient. Marfan syndrome affects different people in different ways. 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.
Can Marfan syndrome be treated?
There is no cure established for Marfan syndrome yet. Treatment focuses on preventing the various complications of the disease.
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Diagnosis
Lifestyle and Home Remedies
Coping and Support
Preparing For Your Appointment
Specialist to consult
What Is Marfan Syndrome?
What Causes Marfan Syndrome?
- You may need to avoid competitive sports and certain recreational activities if you're at increased risk of aortic dissection or rupture. Increases in blood pressure, common in activities such as weightlifting, place extra strain on the aorta. Less intense activities — such as brisk walking, bowling, doubles tennis or golf — are generally safer.
How Is Marfan Syndrome Diagnosed?
- Living with a genetic disorder can be extremely difficult for both adults and children. Adults may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children. But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of ch…
How Is Marfan Syndrome Treated?
- Marfan syndrome can affect many different parts of your body, so you may need to see a variety of medical specialists, such as: 1. A cardiologist, a doctor who specializes in heart and blood vessel disorders 2. An ophthalmologist, a doctor who specializes in eye disorders 3. An orthopedist, a doctor who specializes in structural problems of the skeleton 4. A geneticist, a do…
Additional Resources
- Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformit...
References
- Marfan syndrome is rare, happening in about 1 in 5,000 people.1 Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue.1, One in four people with Marfan syndrome develops the condition for unknown reasons.1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their …