Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, inherited and debilitating condition characterized by the buildup of amyloid deposits throughout multiple parts of the body, including the nerves, digestive system and heart.
While there are an estimated 50,000 people worldwide who live with hATTR amyloidosis, there could be more. This is because symptoms can be easily overlooked as they often mirror those of more common conditions, leading to misdiagnosis or delays in diagnosis. But, as symptoms of hATTR amyloidosis can worsen over time, timely diagnosis and management are critical.
Below, learn about some of the signs, symptoms and risk factors associated with hATTR amyloidosis:
1. Nerve symptoms
Numbness, tingling and/or a burning sensation in the hands or feet, commonly referred to as sensory neuropathy, often impacts people living with hATTR amyloidosis. Sensory neuropathy can spread throughout the body; for example, pain may escalate from the foot to the thigh or back over time.
2. History of carpal tunnel syndrome in both hands
Carpal tunnel syndrome in both hands is another common sign of hATTR amyloidosis and is characterized by numbness and tingling in the thumb, index finger and middle finger, as well as discomfort in the wrist and palm of the hand. It is often an early, potential red-flag sign of the disease. For many, carpal tunnel syndrome may be diagnosed earlier in life without suspicion of a deeper root cause.
3. Loss of movement control
Another symptom of hATTR amyloidosis is impaired balance and difficulty walking due to motor neuropathy. As the disease worsens, many people with hATTR amyloidosis may require walking aids, such as a cane, or a wheelchair.
4. Gastrointestinal issues
People living with hATTR amyloidosis may experience symptoms associated with autonomic neuropathy as well, such as alternating episodes of diarrhea and constipation, nausea, vomiting, or unintentional weight loss. These symptoms may occur at earlier stages of the disease, and often have a significant effect on quality of life. Like some of the other symptoms of the disease, they are often not recognized or diagnosed as being caused by hATTR amyloidosis when they first present.
5. Symptoms related to the heart
hATTR amyloidosis is also associated with heart-related issues, such as shortness of breath, fatigue, dizziness and leg swelling (edema). Damage to the heart muscle may eventually lead to heart failure.
6. Ethnic background
Although anyone can be at risk for hATTR amyloidosis, it is more common for certain ethnicities, such as people of African, Brazilian, French, Irish, Japanese, Portuguese and Swedish descent.
7. Family history
Because hATTR amyloidosis is an inherited condition, genetic testing can determine whether a person carries one of the more than 120 variants in the TTR (transthyretin) gene associated with hATTR amyloidosis. However, even though someone may inherit a TTR gene variant, it does not necessarily mean that they will develop symptoms of hATTR amyloidosis.
This is not a complete list of symptoms that may be experienced in people living with hATTR amyloidosis. The symptoms of hATTR amyloidosis can vary widely among people with the condition, and different symptoms may appear at different times for each person. To learn more about hATTR amyloidosis, speak with your doctor or visit hATTRbridge.com where you can access additional information, resources and support.
A message from Alnylam Pharmaceuticals, Inc. TTR-USA-00114