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Amyloidosis is caused by a build-up of an abnormal protein called amyloid in organs and tissues which may leads to damage of organ function. The symptoms of amyloidosis depend on which tissues and organs are affected. An increase in deposit of amyloid proteins in their kidneys leads to kidney failure and symptoms could be swelling, often in the legs, caused by fluid retention (oedema), tiredness, weakness, loss of appetite. Deposits of amyloid in the heart may result in heart failure, which can cause: an abnormal heartbeat (arrhythmia), oedema and shortness of breath
Diagnosis can be done by heart ultrasound scan (an echocardiogram) to check the condition of your heart and through different blood tests to look for damage to your heart, kidneys or other organs.
ATTR amyloidosis can run in families and is known as hereditary ATTR amyloidosis. People with hereditary ATTR amyloidosis carry mutations in the TTR gene. These usually affect the nerves or the heart, or both. The non-specific symptoms of amyloidosis is hypertrophic cardiomyopathy.
Amyloidosis caused by mutations in 11 amyloidogenic precursor protein genes.