Familial Transthyretin Amyloidosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Familial Transthyretin Amyloidosis?
Neurologists and cardiologists often lead care. An ophthalmologist treats eye problems such as glaucoma and floaters. Many patients see a team of these doctors. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is familial transthyretin amyloidosis?
Familial transthyretin amyloidosis is a rare disease that runs in families. A faulty gene causes a protein called transthyretin to build up into clumps called amyloid deposits that damage nerves, the heart, the kidneys, and the eyes over time.
Amyloidosis describes a group of diseases where certain proteins fold the wrong way and stick together. In familial transthyretin amyloidosis, the protein involved is transthyretin, or TTR, which the liver makes. When a person inherits a changed TTR gene, the protein forms clumps that settle into organs and slowly interfere with how they work. Symptoms often start between ages 30 and 70.
Symptoms
Symptoms depend on which organs the deposits affect. Nerve problems can cause tingling, numbness, burning pain in the hands and feet, and weakness. Heart involvement can cause shortness of breath, tiredness, leg swelling, and an irregular heartbeat. Some people have diarrhea or constipation, and eye deposits can cause floaters or vision changes.
Causes and who gets it
The disease is caused by a change, called a mutation, in the TTR gene. It is inherited in an autosomal dominant pattern, which means a child of a parent with the mutation has a 50 percent chance of getting it. It is rare worldwide but more common in people with Portuguese, Swedish, Japanese, and Irish ancestry.
How doctors diagnose it
Doctors start with a medical history, physical exam, and family history. Tests may include nerve studies, heart tests like an EKG and echocardiogram, and a tissue biopsy. Genetic testing of the TTR gene confirms the familial form.
Treatment
Treatment aims to slow the disease. Medicines called TTR stabilizers can keep the protein from clumping, and newer drugs can lower the amount of TTR the body makes. Doctors may also treat nerve pain, heart failure, and eye problems.
When to see a doctor
Anyone with unexplained numbness, tingling, or weakness in the hands and feet, or new heart symptoms like shortness of breath, should see a doctor. Early diagnosis matters because treatment works best before serious organ damage.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance. A concierge doctor usually charges more and often works alongside insurance. These doctors can order genetic tests, manage nerve pain medicines, coordinate heart and eye care, and spend extra time answering questions. They cannot manage the disease alone and would refer the patient to a specialist, then help carry out the plan between appointments.
Common questions
Is familial transthyretin amyloidosis curable?
There is no cure, but treatments can slow the disease and ease symptoms. Outcomes depend on which organs are affected and how early treatment starts.
Should family members get tested?
Many experts recommend that close relatives talk with a genetic counselor about testing. Testing is a personal choice, and some people prefer not to know.
How fast does the disease get worse?
It varies a lot, even among people in the same family. Newer medicines have changed the outlook for many patients.
Can it affect the eyes even without other symptoms?
Yes, eye deposits can appear, sometimes years after other symptoms begin. Regular eye exams are a common part of care.
Sources
- MedlinePlus - Amyloidosis
- National Organization for Rare Disorders (NORD) - familial amyloid neuropathy - National Organization for Rare Disorders
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.
