Marfan Syndrome is a genetic disorder. This condition is caused by changes to the proteins that help to make and support connective tissue. This condition can impact muscles, organs, bones, and tissues in the body. Patients have a variety of experiences with this condition and can experience a range of symptoms that might be mild or very severe.
The symptoms of Marfan syndrome can vary depending on which part of the body is impacted by the condition. There are some common signs that this condition is present, however. Many patients experience these symptoms:
The cause of this condition is a mutation or a change in the fibrillin-1 (FNB1) gene. This causes soft tissue in the body to be formed incorrectly, and it can block the healing of soft tissue as well. These changes can lead to pain and ongoing damage to the joints and the organs that is caused by soft tissue problems in the body.
The risk factors for this condition are related to genetics. If you have anyone in your family who has this condition or one of your parents is a carrier of the genetic mutation that causes this condition, you might inherit the gene.
Diagnosis of this condition can be difficult in the early stages because it can mimic symptoms of other conditions. A medical history combined with information about a patient’s family history can help to target this condition as a possible reason for a patient’s symptoms.
Doctors will usually order chest X-rays, ECG or echocardiograms, or other imaging tests to look at bone health or organ health. Blood tests can reveal secondary complications of Marfan syndrome and can also be used for genetic testing to confirm that the patient has the gene that causes this disease.
Treatment of Marfan Syndrome is focused on the symptoms that the patient is experiencing. Medications will be focused on helping minimise symptoms related to the disease. These might be beta-blockers to help with heart health or medications that help manage pain related to bone issues that are secondary to Marfan Syndrome. Many patients with Marfan Syndrome can benefit from surgery to help repair organs, bones, and soft tissue that are damaged due to this disease as well.
Because of the complexity of treatment related to this condition, most patients will have a team of different healthcare providers who help them maintain their well-being. They might have a regular doctor who handles smaller concerns and then a host of specialists who provide care related to organ health, physical therapy, and more.
Activity guidelines are often adjusted for these patients to help protect fragile soft tissue from injury and patients should consult with a doctor before engaging in sports or things like weightlifting. Pregnancy can also be challenging for these patients and will usually require guidance from a specialist.
There is no way to prevent this condition since it is genetic. Those who are considering becoming parents could opt to submit to genetic testing before having children if they think they might be carriers for this disease.