If you’ve recently learned that you have hATTR amyloidosis, or are at risk of having the condition, you may feel overwhelmed. hATTR is a very rare inherited disease. Only about 50,000 people worldwide have it. It’s due to a mutation in a gene called the TTR gene. This leads to a buildup of abnormal proteins called amyloids in organs like your heart, kidneys, nervous system, and GI tract. As a result, they don’t work properly.
At your first hATTR appointment, your doctor will ask you a lot of questions. It’s a good idea to be prepared for them. This way, you and your doctor can work together to get you the best treatment possible.
How to Prepare for Your hATTR Appointment
Know your family health history. hATTR is autosomal dominant. This means that if one of your parents has the gene mutation, you have a higher chance of inheriting it. If you have a parent, sibling, or child with the condition, you should get genetic testing done, even if you don’t have any symptoms of the disease.
Bring any test results. Tell your doctor if you’ve had any genetic testing to look for the TTR gene variant. If you do test positive for the gene variant, your doctor will want to run more tests. hATTR can also affect other organs, like your heart, liver, or kidneys. If you’ve had any recent tests to look at them, like an echocardiogram for your heart, or bloodwork, bring the results of those as well.
Bring an updated medication list. Your doctor will want to know all the medications that you are on, including over-the-counter drugs and supplements.
Questions Your Doctor May Ask You
Your doctor may ask you many questions. If you’re prepared to answer them, it’ll help them figure out the best treatment for you. It also gives you more time to ask your doctor some questions of your own.
Here are some things your doctor may ask:
Has anyone else in your family had hATTR? If they have, you’re more likely to get the disease. But even if no one in your family has it, your doctor won’t rule it out. Let your doctor know about any possible conditions family members had that could indicate hATTR, such as heart failure, progressive neuropathy, carpal tunnel syndrome, or gut issues. It’s possible that a relative had it and went undiagnosed.
Have you had any sort of genetic testing yet? Genetic testing looks for gene mutations in your DNA. If one of your close family members (like a parent, child, or sibling) is diagnosed with hATTR amyloidosis, you have a 50% chance yourself of having the gene variant that causes it. Keep in mind that if you have a gene variant, it doesn’t automatically mean that you will have hATTR.
Have you had any diagnostic tests? hATTR can be hard to diagnose since it affects so many different organs. But there are a few tests your doctor may want to run to confirm the diagnosis:
Biopsy. A piece of tissue is taken from your body and checked for amyloid deposits that show if you have hATTR.
Blood tests. These show whether your hATTR has affected your heart, kidneys and/or liver.
Echocardiogram or cardiac MRI. These tests allow your doctor to look at your heart to see if hATTR has caused any damage.
Nerve conduction tests. These check the function of your peripheral nerves to look for damage that could cause peripheral neuropathy. This causes tingling, burning, or weakness in your arms and legs.
Have you had any cardiac (heart-related) symptoms, such as heart palpitations, shortness of breath, reduced ability to exercise, or swelling in your legs, ankles, or feet? hATTR can cause amyloid deposits to build up in several organs, including your heart. This can lead to heart failure, heart disease, or hypertrophic cardiomyopathy (a thickening of the heart muscle). If you have any cardiac symptoms, your doctor will want to refer you to a cardiologist right away.
Do you notice any vision changes, or do you see floaters (black or gray spots)? About 20% of TTR gene mutations affect the eyes. Any changes in your vision need to be checked out by an eye doctor, or ophthalmologist.
Do you have trouble walking? One of the earliest and most common symptoms of hATTR is peripheral neuropathy, or damage to the nerves in your hands, feet, and lower legs. This can cause symptoms such as pain, numbness, tingling, weakness, or burning in these areas. hATTR can also cause your muscles to become stiff and weak, which impacts your coordination. You may also get carpal tunnel syndrome.
If you have these symptoms, and they impact your quality of life, your doctor may recommend that you try occupational therapy. A 2023 study found that it had a positive impact when it was combined with other treatments, like medications.
Do you find that you sweat a lot, have bouts of diarrhea and/or constipation, and have bladder problems? These are all issues related to the autonomic nervous system, which controls involuntary movements like your heart rate, blood pressure, digestion, and sweating. If you have any of these symptoms, it may mean that your hATTR is getting worse.
Have you already tried any medications to treat your hATTR? There are six medications that are FDA-approved to treat and slow the progression of hATTR. They are:
- Eplontersen (Wainua), inotersen (Tegsedi), patisiran (Onpattro), and vutrisiran (Amvuttra) to treat polyneuropathy caused by hATTR
- Tafamidis (Vyndamax) and tafamidis meglumine (Vyndaqel) to treat cardiomyopathy, or heart thickening, caused by hATTR
It’s important to let your doctor know if you’ve tried any of these medications in the past, whether they helped you, and any side effects you had. This can help them figure out which of these drugs is right for you.
Would you consider a liver transplant to treat your hATTR? For decades, a liver transplant was the gold-standard treatment for hATTR. Research suggests that over half of people who had this surgery are still living after 20 years. But it has a high rate of complications, including heart complications.
New research suggests that some of the current drugs may work as well as a liver transplant. A 2023 study published in The Journal of Protein Folding Disorders found that people who took tafamidis lived longer after treatment than those who had a liver transplant. But they were more likely to see their heart disease and neurological problems worsen.
You and your doctor can talk about the pros and cons of liver transplants, compared to other nonsurgical treatments.
Are you open to being part of a clinical trial? Doctors are always looking for better ways to care for people with hATTR. One way to do this is to run clinical trials. Every drug now approved by the FDA for hATTR was tested this way. They are used for all types and stages of hATTR. It’s a good way to get a treatment before it’s generally available to the public. But there are some risks involved, too. Your doctor may know of some clinical trials in your area, and whether or not they may be a good fit for you.
Show Sources
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SOURCES:
American Heart Association: “What is hATTR Amyloidosis?” “Genetic Testing and Counseling for hATTR Amyloidosis.”
The Journal of Protein Folding Disorders: “Comparison between tafamidis and liver transplantation as first-line therapy for hereditary transthyretin amyloidosis.”
Therapeutics and Clinical Risk Management: “Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.”
Orphanet Journal of Rare Diseases: “Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study.”
Medscape: “Transthyretin-Related Amyloidosis Treatment & Management: Approach Considerations, Medical Care, Surgical Care.”
Amyloidosis Research Consortium:” Disease Overview.”
