Hereditary ATTR (hATTR) amyloidosis is a rare, inherited, rapidly progressive disease caused by variants, or changes, in the transthyretin, or TTR, gene. These variants cause the TTR protein to take on an abnormal shape and build up as amyloid deposits in various parts of the body, including the nerves, heart, and digestive system, which cause symptoms of the disease.
Symptoms of hATTR amyloidosis vary widely among people with the condition, even within families, and different symptoms may appear at different times for each person. Common symptoms include tingling and/or numbness in the hands, feet, arms and legs, carpal tunnel syndrome, diarrhea, nausea or vomiting, fatigue, and shortness of breath. Nerve damage that affects sensation, movement, strength, the digestive system, and other bodily functions may be referred to as polyneuropathy, which can lead to significant disability and dysfunction. This is not a complete list of symptoms that may be experienced with hATTR amyloidosis.
Misdiagnosis or delays in diagnosis are common, as symptoms can be similar to those of more common conditions, and awareness is low due to its rarity. However, early diagnosis and management are important as the disease can progress rapidly and significantly. Also, as a genetic disease, when a diagnosis in one patient is delayed, an entire family can remain unaware that they may also be at risk for developing symptoms of the disease.
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