The path to discussion and diagnosis

The more educated you are about hATTR amyloidosis, the more prepared you’ll be to recognize the symptoms.

By keeping track of any hATTR amyloidosis symptoms you might be experiencing, and sharing the notes with your doctor, they can get a more accurate picture of your condition.

hATTR amyloidosis is an inherited condition, so while your family members may not have been diagnosed with the condition, they may have experienced symptoms similar to yours.

It’s important to talk to your family about any family history that may be related to hATTR amyloidosis.

Armed with your knowledge of potential symptoms and family history, it’s time to discuss hATTR amyloidosis with your doctor.

Be prepared to talk to your doctor about your concerns, including the fact that there are diseases with symptoms that may appear to be similar to those of hATTR amyloidosis and misdiagnosis may be common.

Conditions with symptoms similar to that of hATTR amyloidosis

This list may not be all-inclusive.

Alcoholic neuropathy

Amyotrophic lateral sclerosis (ALS)

Amyloid A (AA) amyloidosis

Amyloid light chain (AL) amyloidosis

Carpal tunnel syndrome

Charcot-Marie-Tooth disease

Chronic inflammatory demyelinating polyneuropathy (CIDP)

Diabetic neuropathy

Fabry disease

Hypertensive heart disease

Hypertrophic cardiomyopathy

Idiopathic polyneuropathy

Motor neuron disease

Motor polyradiculoneuropathy

Paraneoplastic neuropathy

Genetic testing has opened a new horizon for the diagnosis and management of hereditary human disease. The results of a genetic test can confirm or rule out a suspected genetic condition, such as hATTR amyloidosis, or help determine a person’s chance of developing or passing on a genetic condition.

Because genetic testing is often associated with many ethical and psychosocial issues, professional genetic counselling is important so that the patient and family can comprehend the meanings and implications of a positive or negative test result.

Genetic testing and counseling may help to:

• Identify risk of disease for patients and their family members
• Shorten the time to diagnosis and prevent misdiagnoses
• Help doctors and patients make informed treatment decisions or consider clinical trials
• Provide information about support resources such as patient advocacy organizations

Genetic counselling is a service that provides information and support for people who have, or may be at risk for, genetic conditions. Genetic counsellors are trained healthcare professionals who can discuss genetics, inheritance, and disease risk as well as the benefits, limitations, and potential implications of genetic testing. Genetic counselling can be performed before, during, or after genetic testing and is often in tandem with the treatment pathway.

Talk to your doctor about the need and possibility for genetic testing to help progress diagnosis.

If you are diagnosed with hATTR amyloidosis, treatments are available that address the underlying cause of the disease. These therapies can help by decreasing the amount of TTR protein that’s made in the body. There are also treatments that bind to TTR proteins and help prevent them from forming clusters.

Liver and/or heart transplant is also an option for some patients who meet certain eligibility criteria.

Since the symptoms of hATTR amyloidosis can worsen over time, managing symptoms is an ongoing process. Doctors may prescribe medication to help manage some of the symptoms that may reduce the daily impact on patients. Additional treatment options for hATTR amyloidosis are currently being researched.