Ziekte Van Marfan
An Overview
Ziekte Van Marfan is a genetic disorder that affects the connective tissue throughout the body. This can lead to a variety of health problems, including heart problems, eye problems, and skeletal problems.
Ziekte Van Marfan is caused by a mutation in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 is a key component of connective tissue, which provides strength and support to the body's tissues and organs.
The symptoms of Ziekte Van Marfan can vary depending on the severity of the condition. Some people with Ziekte Van Marfan may only have mild symptoms, while others may have severe symptoms that can be life-threatening.
Symptoms
The most common symptoms of Ziekte Van Marfan include:
- Tall stature
- Long, thin limbs
- Loose joints
- Heart problems
- Eye problems
- Skeletal problems
- Dural ectasia
Heart problems are the most serious complication of Ziekte Van Marfan. These problems can include aortic aneurysm, aortic dissection, and mitral valve prolapse.
Eye problems are also common in people with Ziekte Van Marfan. These problems can include dislocated lenses, glaucoma, and retinal detachment.
Skeletal problems can also occur in people with Ziekte Van Marfan. These problems can include scoliosis, kyphosis, and pectus excavatum.
Diagnosis
Ziekte Van Marfan is diagnosed based on a person's symptoms and family history. A genetic test can also be used to confirm the diagnosis.
Treatment
There is no cure for Ziekte Van Marfan, but treatment can help to manage the symptoms and prevent complications. Treatment may include medication, surgery, and lifestyle changes.
Medication can be used to treat heart problems, eye problems, and skeletal problems.
Surgery may be necessary to repair aortic aneurysm, aortic dissection, and mitral valve prolapse.
Lifestyle changes can help to reduce the risk of complications. These changes include avoiding strenuous activity, eating a healthy diet, and getting regular exercise.
Outlook
The outlook for people with Ziekte Van Marfan depends on the severity of the condition. With early diagnosis and treatment, most people with Ziekte Van Marfan can live full and active lives.
Additional Information
For more information about Ziekte Van Marfan, please visit the following websites:
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