Transthyretin Amyloidosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Transthyretin Amyloidosis?
Heart doctors called cardiologists treat the heart problems. Nerve doctors called neurologists treat the nerve problems. An ophthalmologist, a doctor who specializes in the eye, treats the eye deposits and vision changes. Many patients see more than one specialist, and a primary care doctor often helps coordinate that care.
What it is
Transthyretin amyloidosis is a rare disease. It happens when a protein called transthyretin changes shape. The changed protein builds up in organs as clumps called amyloid deposits. Over time, these deposits can damage the heart, nerves, kidneys, and eyes.
Symptoms
Symptoms depend on which organs the deposits reach. When the heart is involved, people may feel short of breath, tired, or swollen in the legs, and they may have an irregular heartbeat. When nerves are involved, people may feel numbness, tingling, or burning pain in the hands and feet. Some people have stomach problems such as diarrhea or constipation, or feel dizzy when they stand up. In the eye, deposits can cause blurry vision, floaters, or dry eyes.
Causes and who gets it
Transthyretin amyloidosis happens when the body makes a faulty version of the transthyretin protein that clumps together. In the inherited form, a changed gene is passed down from a parent. In the wild-type form, the protein changes on its own with age, mostly in men over sixty.
How doctors diagnose it
Doctors start with a physical exam, questions about symptoms, and blood and urine tests. Imaging scans can show whether the heart is affected, and a small tissue sample, called a biopsy, can confirm the deposits.
Treatment
Treatment aims to slow or stop the buildup of amyloid deposits. Several medicines work by keeping the transthyretin protein stable or by lowering how much of it the body makes. Doctors also treat the organ problems, such as heart failure or nerve pain.
When to see a doctor
See a doctor if you have ongoing shortness of breath, swelling in the legs, numbness or burning pain in the hands and feet, or unexplained dizziness when standing. Also mention new blurry vision, floaters, or dry eyes that do not go away.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance for visits. A concierge doctor usually charges more and often works alongside insurance. They cannot usually treat the disease itself, so they would refer a patient to a cardiologist, neurologist, or ophthalmologist for specialist care.
Common questions
Is transthyretin amyloidosis cancer?
No, it is not cancer. It is a buildup of a misshaped protein in organs, and it is not contagious either.
Can I pass this to my children?
The inherited form can be passed down, and each child of a person with the changed gene has a fifty percent chance of getting it. The wild-type form is not passed down. A genetic counselor can explain testing options for family members.
Is there a cure?
There is no cure that removes all deposits, but medicines can slow the disease for many people. How well treatment works varies from person to person.
Why does an eye doctor treat a whole-body disease?
Amyloid deposits can collect inside the eye and cause floaters, blurry vision, and dry eyes. Ophthalmologists can often treat these eye problems with procedures or medicines.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
