The Crucial Role of Genetic Testing in Amyloidosis

What is Hereditary ATTR (hATTR)?

Hereditary transthyretin-mediated amyloidosis (hATTR) is an inherited genetic condition affecting a protein called transthyretin (TTR).1 A variant in the TTR gene causes the protein to become abnormally shaped and misfolded. This misfolded TTR forms amyloid fibrils which can build up and deposit in the nerves, digestive system, heart and other tissues and organs, causing a variety of symptoms such as numbness, pain or tingling in the hands and feet, shortness of breath, swelling in the feet and ankles, diarrhea, or constipation, changes in vision and kidney problems.

Early detection and diagnosis through genetic testing are vital to beginning a care and treatment plan before significant disease progression.

Navigating Amyloidosis Through Genetic Testing

Getting a genetic test is a crucial step in the diagnosis process. It confirms the presence of specific variants, providing a more conclusive diagnosis.

If you’re showing a combination of disease symptoms and have a family history of hATTR, testing is recommended. Symptoms may include:

  • Peripheral neuropathy
  • Heart failure with preserved ejection fraction (HFpEF) and increased left ventricular wall thickness
  • Bilateral carpal tunnel syndrome
  • Trigger fingers
  • Spinal stenosis
  • Sudden biceps tendon rupture
  • Previous orthopedic procedures
  • Intolerance to some heart failure medications

Understanding the Role of Genetic Testing

Understanding your genetic predisposition is essential for early detection and effective treatment of hATTR since intervention is more successful before the disease advances.1,2 Genetic testing can provide a precise identification of hereditary ATTR and can empower healthcare providers to craft a personalized care plan catering to your unique needs. Approximately 50,000 individuals around the world may be affected by hATTR, although the number could be higher due to delayed or incorrect diagnoses.1 While this condition can manifest across all races and ethnicities, it tends to be more prevalent among people with West African, Irish or Portuguese ancestry.

Genetic Counseling

In addition to testing, genetic counseling provides information about ways these conditions may impact you and your family.2 Before the genetic testing process, a counselor provides insight on the testing process and potential results, risks, and uncertainties associated with testing. After receiving test results, the counselor explains the results, next steps, and can provide resources and support. It can be taxing, both physically and mentally, to receive a challenging health diagnosis, but genetic counseling offers an additional layer of support for those navigating this experience.

Helpful Patient Resources

Talk with your healthcare provider to learn more about available genetic testing locations and counseling services that may be appropriate for you and your family. You can also find a genetic counselor through the Centers for Disease Control and Prevention (CDC).

There are also organizations like Amyloidosis Support Groups, Amyloidosis Research Consortium, and Amyloidosis Foundation that offer vital support and resources around amyloidosis. Some of their helpful resources can be found below.

For more information on navigating an hATTR diagnosis and treatment, including discussion guides for speaking with family and healthcare providers and additional support resources, visit My ATTR Road Map.

Genetic testing is very important for those with a family history of hATTR or related symptoms, and testing prior to severe disease progression can make a positive difference in your treatment plan and quality of life.2 Talk with your healthcare provider and learn more about your diagnostic and treatment options, to help manage your health proactively.

To learn more about the importance genetic testing in Amyloidosis, click here.

References

  1. American Heart Association. Answers by Heart: What is hATTR amyloidosis? Accessed 22 February 2024. https://www.heart.org/-/media/Files/Health-Topics/Answers-by-Heart/What-is- hATTR-Amyloidosis.pdf
  2. 100 Years. Genetic Testing and Counseling for hATTR Amyloidosis. Accessed 22 February 2024. https://www.heart.org/en/health-topics/cardiomyopathy/understand-your-risk-for- cardiomyopathy/genetic-testing-for-hattr-amyloidosis