Do you have hATTR Amyloidosis? Let's prepare for your first doctor's appointment

It's normal to feel scared, confused, and have a lot of questions when you learn that you have a rare condition called ' hATTR amyloidosis '. Don't be afraid, even if the name sounds a bit complicated. In this article, we'll try to explain it to you in a simple way. Especially if this is your first time seeing a doctor about this condition, we'll talk about how to best prepare for it.

Simply put, what is hATTR Amyloidosis?

To put it simply, it is an inherited disease caused by a change or mutation in a gene called TTR in our body. This genetic mutation causes an abnormal protein called amyloid to form in our body.

Think of it like a clogged drain, these amyloid proteins slowly start to build up in vital organs like our heart, kidneys, nervous system, and digestive system. When they build up, those organs can't do their normal jobs properly. That's when symptoms start to appear.

How do you prepare before going to the doctor?

It's very important to have a little preparation before your first doctor's appointment. Pay attention to these things.

1. Know your family's health history accurately

This is the most important thing. hATTR Amyloidosis is a hereditary disease. In medicine, we call it 'autosomal dominant'. This means that if one of your parents has the gene mutation related to this disease, you have a 50% chance of inheriting it too.

Therefore, if your mother, father, siblings, or children have this disease, it is wise to talk to your doctor about genetic testing, even if you do not have symptoms.

2. Take all the test reports you have with you.

If you have already had a genetic test, such as a blood test or saliva test, that looks for the TTR gene, be sure to bring all of those reports. There are more than 120 TTR gene mutations . Some gene mutations are more common in certain ethnic groups.

What tests can the doctor order?

If you suspect you have this disease or have already been diagnosed, your doctor will first examine you thoroughly (physical exam). In addition, the following tests may be ordered to confirm the disease and monitor its progress:

• Biopsy : This is the most important test to confirm the disease. This usually involves taking a very small piece of tissue from your abdomen or other area and examining it under a microscope to see if there are any amyloid deposits.
• Blood and urine tests: These tests look for specific proteins in the blood or urine that can indicate this disease.
• Scintigraphy: This is a special scan to check for amyloid deposits in the heart.
• Checking heart function : Once the disease is diagnosed, scans such as an echocardiogram or cardiac MRI may be performed to see how much damage has been done to the heart.
• Nerve conduction tests: These tests help determine if there is nerve damage.

The doctor is asking about your symptoms!

The doctor will definitely ask you, "How are you feeling?" It is very important to tell him or her about any symptoms you may have, even the smallest ones. This is because this disease can affect many parts of the body. If you have any of the following symptoms, tell your doctor about them.

What are the treatments for this?

Many years ago, the only treatment for this disease was a liver transplant. Fortunately, there are now many modern drugs that can control the rate of progression of this disease. Your doctor will choose treatment based on three factors:

1. Your symptoms

2. Affected organ

3. Stage of the disease

hATTR disease is classified into four main stages.

• Stage 0: The TTR gene mutation is present, but there are no symptoms.
• Stage I: You can walk normally, but there are mild neurological symptoms such as numbness and pain in the legs and feet.
• Stage II: Requires assistance to walk. Neurological symptoms are also more severe in the arms, legs, and trunk.
• Stage III: Symptoms are so severe that they are confined to a wheelchair or bed.

There are several treatment methods:

• TTR gene silencers: These drugs work by reducing the production of the problematic TTR protein. This reduces amyloid deposition. Examples: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)`.
• TTR stabilizers: These work by preventing the TTR protein from misfolding and forming amyloid deposits. Examples: `Tafamidis (Vyndamax, Vyndaqel)`.
• Amyloid fibril degraders: These drugs help break down amyloid deposits that have already formed. Many of these are still in the research phase.

Will you refer me to other specialists?

Yes. Because this disease affects different parts of the body, your doctor may refer you to other specialists to treat different symptoms.

• Cardiologist: For heart rhythm and heart attack symptoms.
• Gastroenterologist: For conditions such as diarrhea and constipation.
• Urologist: For urinary tract problems.
• Eye doctor: For vision problems.
• Orthopedic specialist: For conditions such as carpal tunnel syndrome.

Your doctor will also talk to you about the prognosis of the disease. This can be anywhere from 3 to 15 years after diagnosis. But remember, it depends on the specific gene mutation you have and the organs it affects. As new treatments are constantly being researched, there is hope for the future.

hATTR Amyloidosis, amyloidosis, TTR gene, hereditary diseases, genetic testing, neurological symptoms, cardiac symptoms