Shall we talk about the hereditary disease hATTR Amyloidosis (Hereditary Transthyretin Amyloidosis)?

Do your hands and feet just tingle? Or do you feel full even after eating a little food, or do you get strange stomach discomfort? Sometimes we think these are normal things, but behind these there may be a more serious, but rare disease that no one talks about. Today we are going to talk about such a disease, which is passed down from generation to generation , and which gradually worsens. That is a disease called hATTR Amyloidosis.

Simply put, what is hATTR Amyloidosis?

The full name of this is Hereditary Transthyretin Amyloidosis. We'll call it hATTR for short. This is a rare disease that is inherited, meaning it's passed down through genes.

Imagine, our body's liver makes a special protein called transthyretin (TTR) . In a healthy person, this protein does its job and is then lost. However, in someone with hATTR disease, due to a mutation in a gene, this TTR protein is produced in the wrong shape. It's like a beautifully made toy falling apart.

These misfolded proteins come together and form small clumps. We call these protein clumps amyloids . These amyloids start to deposit in various parts of our body, especially in organs like nerves, heart, and kidneys. Like dirt getting stuck in a water pipe, these protein deposits start to damage those organs. This can cause serious complications and even be life-threatening. But the good news is that there are now good treatments to control these symptoms.

Your doctor may simply call it "Amyloidosis," because hATTR is one type of a group of diseases called that.

What are the possible symptoms of hATTR disease?

Because this disease affects so many parts of the body, the symptoms are very diverse. Sometimes these symptoms are similar to those of other common illnesses, so it can be difficult to diagnose the disease.

It mainly affects the nervous system. When these proteins build up in the nerves that run from the brain to the rest of the body, we call this condition Polyneuropathy . So you may experience things like this.

How does this disease develop? Who is at risk?

As the name suggests, this is a hereditary disease . If you have this disease, it is because you inherited the defective gene from your mother or father (or both).

This is considered a very rare disease in the world. However, in some countries, for example, Portugal, Japan, and Brazil, this disease is commonly seen. Although there is little specific data on this in Sri Lanka, it is believed that there may be a large number of misdiagnosed patients because the symptoms are similar to other diseases.

Symptoms can appear at any age, usually between the ages of 30 and 70. It affects both men and women equally.

How does the doctor diagnose this disease?

Diagnosing this disease can be a bit complicated because it has many symptoms.

Asking about family history and symptoms

First, the doctor will ask you and your family about your health history.

• Does anyone in your family have heart disease or heart thickening?
• Do you feel numbness or burning in your limbs?
• Are you having stomach upset, diarrhea, or constipation?
• Do you feel dizzy when you stand?
• Do you have vision problems?

Special tests

Depending on your symptoms, your doctor may recommend several other tests.

• Blood and urine tests: These help to check for abnormal protein levels in the body.
• Tissue Biopsy: This is the main way to confirm the disease. Usually, a small piece of tissue is taken from the fat pad under the skin of your abdomen under anesthesia and sent to a laboratory. It can be used to see exactly whether the amyloid protein we talked about is deposited.
• Genetic Testing: Once a biopsy confirms the presence of amyloid, DNA testing is done to determine whether it is hereditary hATTR or another type of amyloidosis. This is very important for planning treatment.
• Other tests: ECG and Echo tests to check heart function, and nerve conduction studies to check nerve function may also be done.

What are the treatments for this disease?

Treatment for hATTR depends on your symptoms and the stage of the disease. There are two main goals of treatment. One is to control the symptoms. The other is to control the production of the abnormal TTR protein, which is the underlying cause of the disease.

1. Treatment for symptoms

• If water accumulates in the body due to heart or kidney problems, diuretics are used to remove that extra fluid.
• There are also medicines for digestive system problems like diarrhea and stomach pain.
• There are also special medications to control nerve pain.

2. Treatments aimed at the cause of the disease

These are the main treatments that prevent the disease from getting worse.

Your doctor will decide which treatment is best for you. Talk openly with him about all of these options.

The medical team that helps you

Because this disease affects multiple organs in the body, you will need the support of a team of doctors with various specialties.

• Neurologist: For nerve-related problems.
• Cardiologist: To monitor and treat heart function.
• Nephrologist: If the kidneys are affected.
• Gastroenterologist: For stomach problems.
• Ophthalmologist: For eye problems.
• Genetic Counselor: To provide understanding about the disease and its impact on heredity.
• Physical Therapist: To help with walking difficulties and keep the body strong.

hATTR, Amyloidosis, Polyneuropathy, Hereditary diseases, Neurological diseases, Numbness of limbs, Heart diseases, TTR gene, Transthyretin, Genetic diseases, Rare diseases