Marfan Syndrome Physiotherapy Brisbane southside.
What is Marfan Syndrome?
Marfan syndrome is a rare genetic disorder that affects the connective tissues in the body, leading to a wide range of physical and medical features. Connective tissue provides support and structure to various organs and systems, including the heart, blood vessels, bones, and eyes. Marfan syndrome can impact multiple body systems and requires ongoing medical management.
What causes Marfan Syndrome?
Marfan syndrome is primarily caused by mutations in the FBN1 gene, which codes for the protein fibrillin-1. Fibrillin-1 plays a critical role in forming the connective tissues that provide strength and elasticity to organs and structures throughout the body. When there is a mutation in the FBN1 gene, it can lead to the production of abnormal fibrillin-1 and disrupt the proper functioning of connective tissues.
What are the features of Marfan Syndrome?
The features of Marfan syndrome can vary widely among individuals but often include the following:
How is Marfan Syndrome diagnosed?
Diagnosing Marfan syndrome typically involves a combination of:
What is the treatment for Marfan Syndrome?
There is currently no cure for Marfan syndrome, but treatment aims to manage symptoms, prevent complications, and improve the individual's quality of life. Treatment options may include:
Early diagnosis and lifelong management are crucial for individuals with Marfan syndrome to minimise the risk of serious complications and improve their overall well-being. Close collaboration with a team of healthcare professionals, including cardiologists, orthopaedists, ophthalmologists, and genetic counsellors, is essential for comprehensive care.
If you or a loved one has questions about Marfan Syndrome and how our physiotherapists might be able to help please call us on 07 3706 3407 or email [email protected]. We would love to work with you!
Marfan syndrome is a rare genetic disorder that affects the connective tissues in the body, leading to a wide range of physical and medical features. Connective tissue provides support and structure to various organs and systems, including the heart, blood vessels, bones, and eyes. Marfan syndrome can impact multiple body systems and requires ongoing medical management.
What causes Marfan Syndrome?
Marfan syndrome is primarily caused by mutations in the FBN1 gene, which codes for the protein fibrillin-1. Fibrillin-1 plays a critical role in forming the connective tissues that provide strength and elasticity to organs and structures throughout the body. When there is a mutation in the FBN1 gene, it can lead to the production of abnormal fibrillin-1 and disrupt the proper functioning of connective tissues.
What are the features of Marfan Syndrome?
The features of Marfan syndrome can vary widely among individuals but often include the following:
- Tall Stature: People with Marfan syndrome tend to be taller than average for their age and gender and have arm span to height ratio being > 1.05
- Skeletal Abnormalities: These can include long limbs, a tall and thin body build, and joint hypermobility.
- Joint Laxity: Joint hypermobility can lead to issues such as joint pain, dislocations, and scoliosis (curvature of the spine).
- Cardiovascular Abnormalities: Marfan syndrome can affect the heart and blood vessels, leading to conditions like aortic root dilation (enlargement of the aorta), mitral valve prolapse, and aortic dissection (a potentially life-threatening tear in the aorta).
- Ocular Abnormalities: Lens dislocation, nearsightedness (myopia), and retinal detachment are eye-related complications.
- Skeletal Deformities: Individuals with Marfan syndrome may have a long, narrow face, a high-arched palate, and dental crowding.
- Skin Abnormalities: Stretch marks (striae), often located on the back, chest, and shoulders, are common.
- Pulmonary Issues: Some individuals may experience lung-related complications, such as spontaneous pneumothorax (collapsed lung).
- Dural Ectasia: A condition in which the lining of the spinal canal (dura) becomes weakened and can lead to back pain and other neurological symptoms.
How is Marfan Syndrome diagnosed?
Diagnosing Marfan syndrome typically involves a combination of:
- Clinical Evaluation: A healthcare provider will assess the individual's medical history, family history, and physical examination based on specific clinical criteria.
- Genetic Testing: Genetic testing can confirm the presence of mutations in the FBN1 gene. However, not all individuals with Marfan syndrome will have a detectable genetic mutation.
- Imaging Studies: Imaging tests such as echocardiograms, CT scans, and MRI may be performed to assess the heart, aorta, and other affected structures.
What is the treatment for Marfan Syndrome?
There is currently no cure for Marfan syndrome, but treatment aims to manage symptoms, prevent complications, and improve the individual's quality of life. Treatment options may include:
- Cardiovascular Monitoring: Regular monitoring of the heart and aorta to detect and manage aortic dilation or dissection. Medications may be prescribed to lower blood pressure and reduce the risk of aortic complications.
- Orthopaedic Management: Physical therapy, orthopaedic devices, and surgical interventions may be used to manage joint issues and skeletal abnormalities.
- Ophthalmologic Care: Regular eye exams and corrective lenses to address visual disturbances.
- Pulmonary and Dural Ectasia Management: Treatment and symptom management as needed for lung and spinal issues.
- Genetic Counselling: Genetic counselling can provide information about the risk of passing Marfan syndrome to future generations.
- Lifestyle Modification: Individuals with Marfan syndrome are often advised to avoid strenuous physical activities and contact sports to reduce the risk of injury to the heart and blood vessels.
- Psychological Support: Coping with a chronic condition like Marfan syndrome may require psychological support and counselling.
Early diagnosis and lifelong management are crucial for individuals with Marfan syndrome to minimise the risk of serious complications and improve their overall well-being. Close collaboration with a team of healthcare professionals, including cardiologists, orthopaedists, ophthalmologists, and genetic counsellors, is essential for comprehensive care.
If you or a loved one has questions about Marfan Syndrome and how our physiotherapists might be able to help please call us on 07 3706 3407 or email [email protected]. We would love to work with you!
