It can lead to organ failure and even death, but treatment can reduce symptoms.
Understanding your risk for hATTR through genetic testing can help you get potential life-saving treatment sooner.
There are more than 120 possible genetic mutations that cause hATTR.
Lourdes Balduque / Getty Images
Sometimes, you need two sets of a mutated gene toinherit a genetic condition.
However, the mutation doesnt mean that youll definitely develop hATTR.
Who Is Amyloidosis Genetic Testing For?
If you have a first-degree biological relative who has hATTR amyloidosis, you should consider amyloidosis genetic testing.
hATTR Amyloidosis Genetic Testing Process
Physically, amyloidosisgenetic testingis straightforward.
Talk to them about your medical coverage.
The sample is sent to a lab, which analyzes DNA through a process called genome sequencing.
Typically, results are ready within a few weeks.Sometimes, a biopsy may be needed.
Genetic Testing Anxiety and Coping With Emotions
Genetic testing can reveal serious information.
Genetic testing should always be coupled with genetic counseling.
Agenetic counselor will help you understand how the results of your test will impact your health and well-being.
Knowing that youre at risk for the condition is frightening, but knowledge is power.
Youll be able to get the best possible healthcare once you know the results.
Ahematologist(medical doctor who diagnoses, treats, and manages blood diseases) will often lead your care.
The first steps will include testing to see if youve actually developed amyloidosis.
Your healthcare provider will also discuss treatment and prevention strategies to help you live a long, healthy life.
In addition to thinking about your own care, you should consider your biological relatives.
Some hospitals offer testing for free to family members of someone with a recently detected mutation.
Summary
Amyloidosis genetic testing is recommended for anyone who has a close relative with hATTR amyloidosis.
This rare genetic disease can lead to heart failure and nerve-related symptoms.
However, early diagnosis is crucial for improving your outcome.
American Heart Association.Genetic testing and counseling for hATTR amyloidosis.
Alreshq R, Ruberg FL.Clinical approach to genetic testing in amyloid cardiomyopathy: From mechanism to effective therapies.
- doi: 10.1097/HCO.0000000000000841
American Heart Association.What is hATTR amyloidosis?
Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.
