Overview
A healthcare provider will diagnose schwannomatosis after a physical exam and testing. During the exam, your provider will learn more about your symptoms and your family medical history.
Because symptoms of schwannomatosis look similar to other conditions and the source of pain may be difficult to find, a schwannomatosis diagnosis may not happen immediately. Fortunately, healthcare providers use updated diagnostic criteria to make diagnosing schwannomatosis types easier than ever before. The diagnostic criteria for SMARCB1-related schwannomatosis include one of the following:
- At least one schwannoma tumor and a confirmed genetic variant of the SMARCB1 gene collected from a blood or saliva genetic test.
- At least two schwannoma tumors that have the SMARCB1 genetic variant when biopsied.
What tests diagnose schwannomatosis?
Imaging tests like an MRI can help your provider find schwannoma tumors. If your provider finds a tumor on an imaging test, they’ll order a biopsy to remove a sample of the tumor to examine it under a microscope. In addition, a genetic blood test can identify if you have a gene change that causes each type.
Symptoms
When to see a doctor
Complications
- High blood pressure.
- Diabetes.
- Heart failure.
- Some types of heart valve disease.
Prevention
- Control high blood pressure, high cholesterol and diabetes.
- Don't smoke or use tobacco.
- Eat a diet that's low in salt and saturated fat.
- Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
- Get good sleep. Adults should aim for 7 to 9 hours daily.
- Maintain a healthy weight.
- Reduce and manage stress.
Living with atrial fibrillation?
Heart Rhythm Conditions Discussions
Comments are closed for this post.