Living With hATTR Amyloidosis

What is hATTR Amyloidosis?

Transthyretin amyloidosis is a disease caused by protein deposits in the body. It is a rare disease. In fact, less than 5 in 10,000 people have this condition.

Transthyretin amyloidosis can show itself through a wide variety of symptoms. Sometimes it manifests itself as heart problems or shortness of breath. However, sensory disturbances or pain in the legs and hands can also occur. There are two types:

When the heart is affected, one speaks of transthyretin amyloidosis with cardiomyopathy (ATTR-CM).

If the nervous system is primarily affected, doctors speak of transthyretin amyloidosis with polyneuropathy (ATTR-PN).

Whether heart or nerves - every ATTR patient has its path of suffering. What they have in common is that the progression of the disease leads to an increasing deterioration in their quality of life.

hATTR Amyloidosis- Rarest of The Rare

When ATTR Amyloidosis manifests itself in the form of a hereditary disease, it’s often referred to as hATTR Amyloidosis, where ‘h’ denotes hereditary origins of the disease.

According to the official website of AKCEA Therapeutics Canada, individuals of Portuguese descent are at a higher risk of inheriting this rare disease than most other people.

What Causes hATTR Amyloidosis

The cause of the disease lies in the cells of the body; more precisely in the liver cells. This is where a protein is produced that normally takes on a transport function in the body. The affected protein is called “transthyretin”

It gave the disease the first part of its name. Four transthyretin building blocks, the so-called “monomers”, form a transport body - just like four wheels form a “transport trolley”.

In healthy people, transthyretin is responsible for transporting vitamin A and thyroid hormones. In amyloidosis patients, the “dolly” is damaged: it is not stable and falls apart. The individual parts clump together and can no longer fulfill their biological transport function. These proteins then become unusable by the body.

The misfolded proteins eventually form long threads. These structures are called “amyloid fibrils”.

When the body can no longer process these thread-like protein structures, it can no longer break them down into individual parts or eliminate them causing the proteins to clump together and accumulate on different organs (e.g., heart, gastrointestinal, kidneys or eyes) or the nerves. The more protein deposits accumulate the greater the discomfort because the organs or nerves are impaired in their function.

Diseases caused by the build-up of amyloid fibrils are called "amyloidoses". Transthyretin amyloidosis is therefore the pathological deposition of transthyretin protein. Depending on where the proteins are deposited and cause symptoms, the disease is divided into transthyretin amyloidosis with cardiomyopathy (ATTR-CM) or transthyretin amyloidosis with polyneuropathy (ATTR-PN).

How to Actively Fight hATTR Amyloidosis

After you have been diagnosed with hATTR Amyloidosis, it is important to maintain your quality of life. As a rule, you will be cared for by a specialist in hATTR amyloidosis and by a team of different specialists who will help you alleviate the possible side effects.

Help with Medication

Several medicines are available in Canada for the treatment of transthyretin amyloidosis. Your treating doctor will decide which therapy is best for you. An early diagnosis is, therefore, crucial to be able to start a suitable ATTR amyloidosis therapy

TEGSEDI™ (inotersen solution for subcutaneous injection) is recommended for the treatment of stage 1 or stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR) and has shown promising results in treating the condition to a significant extent.

Organ Transplant

Before drugs for the treatment of hATTR amyloidosis were available across the globe, a liver transplant was the only way to prevent the harmful protein deposits from forming again. If the drug options have been exhausted and heart failure is still eminent, a heart transplant may be needed.

Conclusion: Start Your Treatment NOW

At this point, it should be clear that hATTR amyloidosis is a life-threatening condition. The only way you ensure proper treatment against this rare disease is to get yourself diagnosed as soon as you start showing the first signs of symptoms.

People of Portuguese descent with a history of hATTR amyloidosis in their family should always proceed with caution. It’s best to get yourself and your family diagnosed to start treatment at the earliest.