You may be very worried when you find out that you have a rare genetic condition called hATTR amyloidosis. It is actually a very rare disease. Only 50,000 people worldwide have this disease. It is normal to feel scared and confused when you hear about it. Simply put, this disease is caused by a mutation in a gene called TTR in our body. As a result, an abnormal type of protein called amyloids is deposited in organs such as our heart, kidneys, nervous system, and gastrointestinal system. Then those organs cannot function properly. When you go to see the doctor for the first time, he will ask you a lot of questions. It is very important to be prepared in advance. Then you and the doctor can choose the best treatment for you.
How do you prepare before going to see the doctor?
It's worth paying attention to these points before you go to the doctor.
Know your family medical history accurately
hATTR amyloidosis is a genetic disease. Medically speaking, it is an ``autosomal dominant`` condition. This means that if one of your parents has the gene mutation that causes this disease, you have a 50% chance of inheriting it. If one of your parents, a sibling, or a child has been diagnosed with this disease, it is very important to get genetic testing, even if you do not have any symptoms.
Remember, just because someone in your family has the disease doesn't mean you're 100% likely to get it. But knowing if you have the gene can help you get treatment .
Take all the test reports you have done.
If you have previously had any genetic testing to look for the TTR gene mutation, tell your doctor about it. Also, if your test results confirm that you have the gene, your doctor will recommend some more tests. This is because hATTR disease can also affect other organs, such as the heart, liver, and kidneys. If you have recently had a heart test (echocardiogram) or blood tests, be sure to bring all those reports.
Bring a list of the medications you are taking.
Your doctor will want to know about all the medications you take. This includes not only the ones prescribed by your doctor, but also any over-the-counter pain relievers, vitamins, and supplements you take.
Questions the doctor may ask you
Being prepared to answer your questions will help your doctor decide on the best treatment for you. It will also give you time to ask any questions you may have.
Here is a brief summary of what the doctor might ask you.
| Questioning area | What you may be asked and what you should be aware of |
|---|---|
| Family history of disease | "Does anyone else in your family have hATTR?" they ask. Maybe someone in your family has had heart disease, progressive neuropathy , carpal tunnel syndrome , or intestinal problems. Maybe they had hATTR and didn't know it. So share this information with them. |
| Genetic and diagnostic tests | "Have you had genetic testing?" they ask. hATTR can be difficult to diagnose because it affects multiple organs. Your doctor may recommend the following tests: a biopsy (taking a piece of tissue for testing), blood tests, an echocardiogram or cardiac MRI to check your heart, and nerve conduction tests to check nerve function. |
| Heart-related symptoms | "Do you have symptoms such as heart palpitations, shortness of breath, difficulty exercising, or swelling in your legs?" hATTR can cause these proteins to build up in the heart, causing heart attacks, heart disease, or thickening of the heart muscle (hypertrophic cardiomyopathy) . If you have these symptoms, you will be referred to a cardiologist immediately. |
| Vision problems | "Do you have any changes in your vision, such as floaters?" About 20% of TTR gene mutations affect the eyes. Any changes in vision should be checked by an ophthalmologist . |
| Gait and nerve problems | "Are you having trouble walking?" One of the first and most common symptoms of hATTR disease is damage to the nerves in your arms and legs (peripheral neuropathy) . This can cause symptoms like pain, numbness, and tingling. If these are affecting your life, you may need to consider things like occupational therapy . |
| Autonomic nervous system problems | "Do you have excessive sweating, alternating between diarrhea and constipation, or difficulty controlling your urine?" These are problems with the autonomic nervous system, which controls things like our heart rate, blood pressure, and digestion that are out of our control. Having these symptoms could be a sign that your hATTR condition is getting worse. |
The doctor also talks about treatment methods.
After confirming your condition, the doctor will discuss treatment options with you.
Have you already taken your medicine?
There are several medications currently approved to control hATTR and slow its progression. Examples include ` Eplontersen (Wainua)`, `inotersen (Tegsedi)`, `patisiran (Onpattro)`, `vutrisiran (Amvuttra)`, `tafamidis (Vyndamax)`, and `tafamidis meglumine (Vyndaqel)`. It is important to tell your doctor if you have used any of these medications before, whether they helped you, or if they caused any side effects.
What do you think about a liver transplant?
For decades, the best treatment for hATTR was a liver transplant. But it comes with a high risk of complications, especially heart complications. New research shows that some new drugs may be as effective as a liver transplant. So you can talk to your doctor about the pros and cons of this surgery and other treatments.
Would you like to participate in a clinical trial?
Doctors are always looking for better ways to care for hATTR patients. One way to do this is through clinical trials. Every drug approved today has been tested in this way. This is a great opportunity to get a new treatment before it becomes available to the general public. But there are some risks. You can ask your doctor about this too.
Take-Home Message
- hATTR amyloidosis is a rare, hereditary disease. It's normal to feel anxious when you learn about it.
- When you go to see the doctor, bring your family medical history, test results you've had, and a list of medications you're taking.
- Tell your doctor about your symptoms (chest pain, difficulty breathing, numbness in your limbs, changes in your vision) without hiding anything.
- Talk openly with your doctor about treatment options (medication, surgery, medical research) and ask all the questions you have.
- By correctly diagnosing the disease and receiving the appropriate treatment, you can live successfully with this disease.
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