Medically reviewed and verified by Kate Burke, MD MHA
Estimated reading time: 5 minutes
Heart failure, gastrointestinal problems, and nerve pain. Many conditions can cause these symptoms! One of them, often undetected and undiagnosed, is transthyretin amyloidosis, or ATTR amyloidosis. What exactly is that? Amyloidosis is a rare and progressive disease. It is categorized by the buildup of abnormal protein deposits called amyloids in various tissues and organs throughout the body. Generally, these deposits interfere with the normal functioning of organs, leading to a range of symptoms and complications.
In ATTR amyloidosis specifically, the protein that builds up is transthyretin. This protein changes its shape and forms into fibrous clumps. These clumps then spread throughout the body, and over time can seriously damage organs and nerves. This is a complicated process! This article is to help you understand the mechanisms behind it and what you can do to treat the condition.
What is Transthyretin?
Transthyretin is a protein found in cells that circulate in your blood. The liver naturally produces it. Normally, this protein carries vitamin A and a hormone called thyroxine to different parts of the body. However, when this protein is damaged, it can lead to ATTR amyloidosis.
Types of ATTR Amyloidosis
There are two main types of ATTR amyloidosis.
- Hereditary ATTR Amyloidosis (hATTR): This form of the disease is caused by genetic mutations in the transthyretin (TTR) gene. This gene is responsible for producing the transthyretin protein. It typically manifests earlier in life and tends to progress more rapidly. It is inherited, and most commonly affects the nerves and heart.
- Wild-type ATTR Amyloidosis (wtATTR): Also known as senile systemic amyloidosis, this form occurs in older individuals without a family history of the disease. Aging naturally causes this to happen. Over time, TTR proteins can become unstable. They can begin to misfold naturally, so family history of the disease is not a prerequisite. It usually affects the heart, and often shows up at the age of 65 or older. Many experts believe it is greatly under-diagnosed, and often the underlying cause of heart failure.
Common Symptoms of ATTR Amyloidosis
Symptoms of ATTR amyloidosis can vary depending on the organs affected. Chiefly it impacts the heart and nerves. It rarely affects other organs. In its early stages, it may mimic other conditions like heart failure or hypertension. Symptoms of wild-type ATTR may be mild and remain undiagnosed. The most common are:
- Shortness of breath
- Coughing or wheezing, especially when lying down
- Swelling in the feet, ankles and legs
- Abdomen bloating
- Confusion or trouble thinking
- Increased heart rate
- Palpitations or abnormal heart rhythms
Diagnosis
Often, catching ATTR amyloidosis will come about during routine cardiac tests. An electrocardiogram or echocardiogram are the most common. If physicians suspect ATTR amyloidosis but cannot find it, there may be more specialized tests. Imaging studies, such as a cardiac MRI or a nuclear medical scan provide a detailed picture of the heart. A tissue biopsy can give a definitive diagnosis, and genetic testing will find hereditary traits.
Treatment Options
The treatment of ATTR amyloidosis aims to slow down the progression of the disease, manage symptoms, and improve quality of life. Treatment options may include:
- Medications:
- Tafamidis (Vyndamax): This medication stabilizes the transthyretin protein, preventing it from forming amyloid deposits. This drug treats a specific type of ATTR amyloidosis called transthyretin amyloid cardiomyopathy (ATTR-CM).
- Patisiran (Onpattro) or Inotersen (Tegsedi): These medications decrease the production of transthyretin protein, thereby reducing the formation of amyloid deposits. They have been approved for treating polyneuropathy of hATTR.
- Vutrisiran (Amvuttra): A new medication called a small interfering RNA approved for treating the polyneuropathy of hATTR by decreasing the amount of transthyretin made in the body hence less build up in the tissues.
- Supportive Care:
- Symptomatic treatments may include medications to manage heart failure, neuropathic pain, gastrointestinal symptoms, and kidney dysfunction.
- Organ-Specific Treatments:
- In some cases, organ-specific treatments such as heart or kidney transplantation may be considered for individuals with severe organ involvement.
How Your Life May Change
An ATTR amyloidosis diagnosis is often overwhelming. It is essential to remember that there are treatment options available to help manage the disease and its symptoms. Work closely with a healthcare team specializing in amyloidosis to develop a personalized treatment plan tailored to your specific needs.
Living with ATTR amyloidosis may require adjusting your lifestyle. You will have to incorporate regular medical monitoring to track disease progression and manage symptoms effectively. This may include:
- Regular follow-up appointments with healthcare providers
- Adhering to prescribed medications and treatment regimens
- Making dietary and lifestyle modifications to support overall health
- Seeking support from family, friends, or support groups to cope with the emotional challenges of living with a chronic illness
It's important to stay informed about the latest advancements in ATTR amyloidosis research and treatment options. New therapies continue to emerge, offering hope for improved outcomes and quality of life for people living with the disease.
Remember that you are not alone on this journey! There are resources and support networks available to help you navigate the challenges of living with ATTR amyloidosis. Don't hesitate to reach out to your healthcare team or other support services for assistance and guidance along the way.
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