Diagnosis
The path to diagnosis
Symptoms of hATTR amyloidosis may be similar to those of other conditions. The more educated you are about the symptoms, the better prepared you can be to speak with your healthcare professional about a possible diagnosis.
It is important that you discuss all the symptoms that you may be experiencing. Your health care professional will most likely refer you to one or more specialists including neurologists, cardiologists, gastroenterologists and opthalmologists. This is because hATTR amyloidosis is a multi-systemic disease which can affect multiple parts of the body.
How do you test for hATTR amyloidosis?
Healthcare professionals will use a combination of tests to diagnose hATTR amyloidosis. These may include:
Tissue Biopsy
By removing a small sample of tissue for lab examination, your doctors
can confirm the presence of amyloid deposits.
Genetic Testing
This simple blood test will tell you if you carry a mutation in the
TTR gene associated with hATTR amyloidosis. Genetic counsellors may
be available to help you understand the issues related to genetic
testing - including the medical, social and psychological consequences
of a positive result - and can help you decide if the test is right
for you.
Other Tests
These can include nerve tests, muscle tests, echocardiogram, MRI
and other types of scans. They can determine the impact of amyloid
deposits on the heart, nerves and other organs.
Speaking with a doctor
Speaking with your healthcare professional about hATTR amyloidosis
Symptoms of hATTR amyloidosis may be similar to those of other conditions. It's important that you discuss all the symptoms you experience because your healthcare professional may choose to refer you to a specialist who could prescribe further tests to help make a diagnosis.
