Questions about Marfan syndrome?
Hello, doctor.
Recently, I saw news about thumb joint testing for Marfan syndrome.
When I make a fist, my thumb extends beyond the palm surface, and when I shake hands, my thumb overlaps with my little finger by one joint.
I am 163 cm tall and weigh 48 kg, with a myopia of 1000 degrees and dental misalignment.
Since elementary school, I have experienced symptoms such as fainting, dizziness, migraines (accompanied by gradually expanding visual disturbances resembling colored static), temporary vision loss, lower back pain, leg numbness, anemia, arrhythmia, palpitations, and chest pain.
Over the past five years, doctors have conducted various tests, including retinal exams, intraocular pressure measurements, 24-hour ECG, EEG, and carotid ultrasound, but found no significant issues, only noting that my heart rate is slower than average.
The last time I saw a doctor, about a year ago, they mentioned that I have autonomic nervous system dysregulation.
However, after the joint assessment, my family is concerned and wants me to get further tests at the hospital.
Is this a case of overreacting and wasting medical resources? I do not feel particularly unwell.
Would you recommend that I observe my condition and seek medical attention only if new symptoms arise? Or should I prioritize certain health checks for ongoing monitoring? Thank you for your response.
Jun, 30~39 year old female. Ask Date: 2020/09/30
Dr. Jian Yingxiu reply Rare Disease
Hello: The clinical diagnosis of Marfan syndrome needs to be determined by a specialist based on your condition, and genetic testing may be necessary if required.
Please feel free to visit the genetic counseling clinic at any medical center.
Reply Date: 2020/09/30
More Info
Marfan Syndrome is a genetic disorder that affects the body's connective tissue, which is crucial for providing support to various structures, including bones, blood vessels, and organs. This condition is caused by a mutation in the FBN1 gene, which encodes the protein fibrillin-1. Individuals with Marfan Syndrome often exhibit a range of symptoms that can affect multiple systems in the body, including the skeletal, cardiovascular, and ocular systems.
Symptoms of Marfan Syndrome
1. Skeletal Features: People with Marfan Syndrome typically have tall stature, long limbs, and long fingers and toes. They may also have a slender build, scoliosis (curvature of the spine), and chest deformities such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest).
2. Cardiovascular Issues: One of the most serious complications associated with Marfan Syndrome is cardiovascular problems, particularly involving the aorta. Individuals may experience aortic dilation or dissection, which can be life-threatening. Other heart-related issues may include mitral valve prolapse.
3. Ocular Problems: Many individuals with Marfan Syndrome have eye issues, such as lens dislocation (ectopia lentis), myopia (nearsightedness), and an increased risk of retinal detachment.
4. Other Symptoms: Patients may also experience joint hypermobility, which can lead to joint pain and dislocations. Additionally, they may have a higher incidence of anxiety and depression due to the chronic nature of the condition and its physical manifestations.
Diagnosis
Diagnosis of Marfan Syndrome typically involves a combination of clinical evaluation and genetic testing. The Beighton score can be used to assess joint hypermobility, while specific criteria, such as the Ghent criteria, help in diagnosing the syndrome based on the presence of characteristic features across different systems. Genetic testing can confirm the diagnosis by identifying mutations in the FBN1 gene.
Next Steps
Given your symptoms and family concerns, it is advisable to seek further evaluation from a healthcare professional experienced in genetic disorders, particularly a geneticist or a specialist in connective tissue disorders. Here are some steps you might consider:
1. Consultation with a Specialist: It would be prudent to consult with a geneticist or a rheumatologist who specializes in Marfan Syndrome. They can perform a thorough evaluation and determine if your symptoms align with the syndrome.
2. Cardiovascular Assessment: Since cardiovascular complications are a significant concern in Marfan Syndrome, an echocardiogram may be recommended to assess the structure and function of your heart and aorta.
3. Ocular Examination: A comprehensive eye exam by an ophthalmologist is essential to check for lens dislocation and other ocular issues associated with Marfan Syndrome.
4. Monitoring Symptoms: Keep track of your symptoms, especially those related to cardiovascular health (like chest pain, palpitations, or fainting) and neurological symptoms (like headaches and dizziness). If these symptoms worsen or new symptoms arise, seek medical attention promptly.
5. Genetic Counseling: If a diagnosis of Marfan Syndrome is confirmed, genetic counseling can provide valuable information regarding the inheritance pattern, implications for family members, and management strategies.
Conclusion
While it may feel like a small concern, your symptoms warrant further investigation, especially given the potential for serious complications associated with Marfan Syndrome. Early diagnosis and management can significantly improve quality of life and reduce the risk of severe complications. It is better to err on the side of caution when it comes to your health, so pursuing a thorough evaluation is a wise decision.
Similar Q&A
Understanding Marfan Syndrome Symptoms and Important Considerations
Marfan syndrome is a genetic disorder that affects the body's connective tissue. Symptoms may vary widely among individuals, but common signs include: 1. Tall Stature: Individuals often have a tall and slender build. 2. Long Limbs and Fingers: Proportional elongatio...
Dr. Jian Yingxiu reply Rare Disease
Marfan Syndrome[Read More] Understanding Marfan Syndrome Symptoms and Important Considerations
Understanding Marfan Syndrome: Diagnosis and Specialist Guidance
I am unsure if there are any objective methods for diagnosing this condition or which specialty clinic to consult. A dermatologist had previously suspected my condition, while a cardiologist at the hospital did not consider it to be within their expertise. Is the latter opinion m...
Dr. Jian Yingxiu reply Rare Disease
Marfan syndrome traditionally has a set of diagnostic criteria based on symptoms, with higher scores indicating a closer resemblance to the condition. However, current genetic testing can identify pathogenic genes associated with Marfan syndrome as well as other connective tissue...[Read More] Understanding Marfan Syndrome: Diagnosis and Specialist Guidance
Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates
Dear Dr. Hou, My daughter is 12 years old and is about to enter the first year of junior high school. She is 168 cm tall and weighs 46 kg. Approximately two years ago, she was diagnosed with suspected Marfan syndrome. Her current symptoms include scoliosis with an S-shaped curve...
Dr. Hou Jiawei reply Rare Disease
The treatment for Marfan syndrome primarily focuses on symptomatic management. Utilizing low-dose estrogen can promote early closure of the growth plates, thereby slowing growth and reducing the severity of scoliosis. Additionally, bone density should be assessed to determine app...[Read More] Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates
Which Medical Specialty Offers Consultation for Marfan Syndrome?
Excuse me, doctor, if I want to get a consultation for Marfan Syndrome, which department should I visit? It seems a bit strange to choose any department... There seem to be very few people with this syndrome in Taiwan, right? Thank you!
Dr. Sun Weixu reply Family Medicine
Marfan syndrome is an autosomal dominant genetic mutation that leads to connective tissue disorders. It primarily falls under the category of immunology and rheumatology; however, due to this connective tissue disease affecting multiple organs containing connective tissue [such a...[Read More] Which Medical Specialty Offers Consultation for Marfan Syndrome?
Related FAQ
Congenital Metabolic Disorders
(Rare Disease)
Other(Rare Disease)
Neurology(Rare Disease)
Kawasaki Disease(Rare Disease)
Height(Rare Disease)
Ichthyosis(Rare Disease)
G6Pd Deficiency(Rare Disease)
Osteogenesis Imperfecta(Rare Disease)
Whole Exome Sequencing(Rare Disease)
Newborn Screening(Rare Disease)