TTR amyloidosis occurs when a normal protein called transthyretin (TTR) becomes misfolded. Misfolded TTR will bind together to form a substance called an amyloid fibril which can then deposit in your organs and have serious health consequences. At the Washington University Amyloid Center, you receive care from a team of doctors who specialize in treating this rare condition. We develop a personalized care plan to help you manage symptoms and avoid permanent organ damage.
Families throughout the St. Louis region and beyond trust our capabilities. Our care includes free genetic testing, thorough evaluations and the latest treatments.
What Is Transthyretin (TTR) Amyloidosis?
With amyloidosis, protein fibrils deposit in your organs. These deposits make it difficult for your organs to do their jobs. Amyloidosis can affect many parts of the body, including the heart, nerves, kidneys and digestive system.
There are many types of amyloidosis. TTR amyloidosis happens when TTR proteins misfold and then form amyloid in your organs. A mutation in the transthyretin gene may be responsible for TTR amyloidosis.
If a member of your family has a form of hereditary TTR amyloidosis, you face a higher risk of developing it, but having a TTR gene mutation does not always mean you will experience the condition. Also, some patients can develop TTR amyloidosis without having a genetic mutation. In these cases your family members are not at an increased risk of developing TTR amyloidosis.
Free Genetic Testing for TTR Amyloidosis
You may be eligible to receive testing for TTR amyloidosis. We use a blood or saliva sample to check for TTR gene mutations. Our team includes genetic counselors with experience in amyloidosis who explain the results. We also help you make decisions about the next steps in your care.
We recommend genetic testing for all people who are at least 40 years old and have a family history of TTR amyloidosis.
TTR Amyloidosis Care: Why Choose Us?
You receive care from Washington University Physicians with years of experience diagnosing and treating amyloidosis. Our team includes specialists in cardiology, kidney disease and digestive disorders. We offer a level of care that helps many people achieve symptom relief.
You benefit from:
- Focus on prevention: If you have a TTR gene mutation but are not experiencing symptoms, we monitor your health through regular follow-up visits. We perform tests to detect the earliest signs of amyloidosis. Monitoring allows you to start treatment precisely when you need it, which may help you avoid organ damage.
- Effective care: If you are experiencing amyloidosis symptoms, we perform a thorough evaluation and run multiple tests. We can confirm your diagnosis with a high degree of accuracy. And we work together to start you on treatments as quickly as possible. Find out more about amyloidosis diagnosis and treatment.
- Latest treatments: Our active participation in research gives you access to new care options before they are widely available. We are often the first place in the St. Louis region offering new amyloidosis medications.
TTR Amyloidosis Symptoms
Amyloid slowly deposits over time. If you are at risk for TTR amyloidosis, you may not experience symptoms until adulthood, possibly even late adulthood. However, some people with the TTR gene mutations may never develop amyloidosis.
Amyloid deposits from TTR amyloidosis often affect the:
If amyloid deposits occur in your digestive system, you may have:
- Diarrhea or constipation
- Loss of appetite
- Weight loss
If the amyloid deposits are in your heart, you may experience:
Amyloid deposits in the kidneys may cause the kidneys to function abnormally. Amyloid in the kidneys can cause:
- Protein in your urine
- Swelling in your legs, arms, lungs or stomach
- Unusual tiredness (fatigue)
- Kidney failure
Amyloid deposits can cause nerve damage resulting in:
- Difficulty walking
- Numbness and tingling, including carpal tunnel syndrome
- Sensitivity to pain
- Dizziness when moving from a seated to a standing position
Evaluation and Diagnosis for TTR Amyloidosis
We start by asking you about your health history. We also ask about the health history of family members who have amyloidosis or a TTR gene mutation.
You receive tests that often include:
- Biopsy: This test is the most common method for diagnosing amyloidosis. During a biopsy, we take a tissue sample from the affected area, which may include your heart, nerves or kidney. We examine the tissue under a microscope to check for signs of amyloid deposits.
- DNA sequencing: If amyloid deposits are present, we may test for the TTR gene mutation. The results of this test help us determine the treatments that are best for you.
- Other Diagnostic Tests: Electrocardiogram (ECG), echocardiogram (‘echo’), magnetic resonance imaging (MRI), TTR scan, and/or blood and urine tests.
TTR Amyloidosis Treatment
While there is no cure for TTR amyloidosis, an effective care plan helps manage your symptoms. Our team tailors your care to relieve the symptoms of amyloid deposition and prevent further damage.
Your care may include:
- Amyloidosis medications: We prescribe medications to reduce the production of TTR or prevent the deposits in tissues. The medications help your organs work as efficiently as possible.
- Treatments that relieve symptoms (supportive care): We provide therapies that ease discomfort and help your body cope with amyloid deposits. If you experience an arrhythmia, our cardiologists deliver medications and procedures to treat it.
- Organ transplant: In rare cases, amyloidosis causes damage so severe an organ stops working. During an organ transplant, we replace the damaged organ, such as the heart, liver or kidneys, with a healthy donor organ. Barnes-Jewish is home to a nationally recognized organ transplant program. Find out more about our Transplant Center.
To make an appointment with a Washington University amyloidosis specialist at Barnes-Jewish Hospital, call 888.969.4806.