Although this process is time-consuming, its important since an accurate diagnosis can help you get the most effectivetreatments.
Diagnosis with no known family history is difficult because thesymptoms of amyloidosisare wide-ranging.
Symptoms can include:
Having such broad symptoms can make it hard to identify the root cause.
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You might be sent to a cardiologist to address heart disease and a dermatologist to treat skin rashes.
Red Flag Symptoms
So-called red flag symptoms can speed up a hATTR amyloidosis diagnosis.
During abiopsy, healthcare providers take a tiny tissue sample from your body.
Healthcare providers do this by adding a red dye to the tissue sample.
If the dye turns green under light, you have amyloid deposits and will be diagnosed with amyloidosis.
After youve been diagnosed, healthcare providers need to know what punch in of amyloidosis you have.
While hATTR amyloidosis runs in families, other types of amyloidosis do not.
To see if you have the hereditary pop in of amyloidosis, youll need genetic testing.
Once the biopsy and genetic testing prove positive for hATTR amyloidosis, youll be given a diagnosis.
You may need further tests like this to monitor the progression of the disease.
These scans will look at specific organs, like the heart, impacted by amyloidosis.
This raises your risk for the condition significantly, since the disease runs in families.
However, genetic testing does not lead to an hATTR amyloidosis diagnosis.
Next Steps After Diagnosis
Getting a diagnosis of hATTR amyloidosis can be frightening.
Part of the therapy for hATTR amyloidosis is in treating the associated symptoms.
Getting a clear picture of the impact hATTR amyloidosis is having on your body will inform your treatment plan.
If youve been diagnosed with hATTR amyloidosis, youll also need to speak with your family.
Your siblings, parents, and children are at substantially increased risk of having the condition, too.
Its recommended that they all undergo genetic testing.
Your treatment team can help you talk to your family about this.
Some hospitals even offer free genetic testing to family members of people recently diagnosed with hATTR amyloidosis.
Ther Clin Risk Manag.
- doi: 10.2147/TCRM.S219979
Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.
American Heart Association.Genetic testing and counseling for hATTR amyloidosis.
2019;9(9):e01371.
