TTR amyloidosis occurs when your body produces too much of a protein called transthyretin (TTR) and retinol (vitamin A). When TTR accumulates, it binds together to form a substance called amyloid. The substance can form deposits in your organs. As the buildups become more severe, you may experience heart, nerve and kidney problems.
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 trust our capabilities. Our care includes free genetic testing, thorough evaluations and the latest treatments.
What Is Transthyretin (TTR) Amyloidosis?
With amyloidosis, amyloid proteins travel through your bloodstream, forming buildups in your organs. These buildups 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 accumulate in your organs. A mutation in the transthyretin gene may be responsible for TTR amyloidosis.
If a member of your family has 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.
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 deposits build up slowly. 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 buildups from TTR amyloidosis often affect the:
If amyloid buildups occur in your digestive system, you may have:
- Diarrhea or constipation
- Loss of appetite
- Weight loss
If the amyloids are in your heart, you may experience:
Amyloid deposits in the kidneys may cause damage leading to nephrotic syndrome.
Nephrotic syndrome can cause:
- Protein in your urine
- Swelling in your legs, arms, lungs or stomach
- Unusual tiredness (fatigue)
- Kidney failure
Amyloid buildups can cause nerve damage resulting in:
- Difficulty walking
- Hand weakness
- Numbness or tingling
- 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.
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 buildups and prevent further damage.
Your care may include:
- Amyloidosis medications: We prescribe medications to reduce the production of TTR or prevent the buildup of 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 buildups. If you experience an arrhythmia, our cardiologists deliver medications and procedures to fix 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.