Speaking with your healthcare professional about hereditary ATTR (hATTR) amyloidosis

Learning about this condition and your family health history can help you have a conversation with your healthcare professional

 

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’s important that you discuss all the symptoms you’re experiencing because your healthcare professional may choose to refer you to a specialist who could prescribe further tests to help make a diagnosis.

Are you at risk?

Take the risk assessment

Start the conversation with your doctor

Hear from people living with hATTR amyloidosisIf you think you may be experiencing symptoms of hATTR amyloidosis, the first step is to have a discussion with your doctor. Bring this discussion guide to your next GP or specialist appointment – it covers everything you need to have an informed discussion with your doctor about hATTR.

Download Discussion Guide »
Conditions with symptoms that may appear to be similar to those of hATTR amyloidosis

This list may not be all-inclusive.

Conditions associated with polyneuropathy
Chronic inflammatory demyelinating polyneuropathy (CIDP)
Amyotrophic lateral sclerosis (ALS)
Motor polyradiculoneuropathy
Carpal tunnel syndrome
Idiopathic polyneuropathy
Paraneoplastic neuropathy
Motor neuron disease
Charcot-Marie-Tooth disease
Alcoholic neuropathy
Diabetic neuropathy
Amyloid light (AL) chain amyloidosis
Amyloid A (AA) amyloidosis

Conditions associated with cardiomyopathy
Hypertensive heart disease
Hypertrophic cardiomyopathy
Fabry disease
Amyloid light (AL) chain amyloidosis

If you experience symptoms and are aware of a family history, speak to your healthcare professional—he or she can conduct an evaluation and determine the right plan of action. Because the condition affects different parts of the body, it may be necessary for your healthcare professional to refer you to a specialist who is familiar with hATTR amyloidosis.

Why take the assessment?

hATTR amyloidosis is a rare disease but its symptoms are often similar to those of other conditions, leading to potential delays in diagnosis. Timing is critical because the sooner you are diagnosed, the sooner you could get access to treatment. The good news is, genetic testing can determine if you have the condition.

Are you at risk? Use this simple assessment tool to help guide your discussion with your doctor. It only takes 1 – 2 minutes to complete.

Question 1 of 12

Do you suffer regularly from shortness of breath and/or wake up in the middle of the night unable to breath?

Question 2 of 12

Do you have swelling (fluid retention) in your legs or other areas (waist, hands) regularly?

Question 3 of 12

Do you regularly experience abdominal (stomach) pain, constipation, diarrhea/loose or watery bowel movements?

Question 4 of 12

Are you regularly unable to differentiate hot from cold (for example, when getting in the shower or bath)?

Question 5 of 12

Do you regularly feel numbness, tingling, burning or prickling sensation in the hands or feet, and/or diagnosed with neuropathy?

Question 6 of 12

Do you regularly have difficulty with balance (for example, in the shower or at night-time or other times) or require aid to walk and/or move around, or feel faint?

Question 7 of 12

Have you experienced unintentional weight loss?

Question 8 of 12

Do you have a history of heart failure, irregular or racing heartbeat, and/or a pacemaker?

Question 9 of 12

Do you have a history of carpal tunnel syndrome?

Question 10 of 12

Do you have, or have you ever had spinal stenosis (lumbar, cervical or other)?

Question 11 of 12

Do you have a family history of amyloidosis, heart disease, or a thick heart?

Question 12 of 12

What is your family heritage or background?

Results

Thank you for completing the assessment

Based on your family history and your symptoms you may be at risk for hereditary amyloidosis (hATTR). Talk to your doctor about your risk and whether genetic testing is right for you and your family. In Canada, there are programs that make genetic tests available free of charge for people who may carry the hATTR amyloidosis gene.

OR

Download Assessment Results

Find out more…

Hear from people living with hATTR amyloidosis

Resources

Have a conversation with your doctor

If you think you may be experiencing symptoms of hATTR amyloidosis, the first step is to have a discussion with your doctor. Bring this discussion guide to your next GP or specialist appointment – it covers everything you need to have an informed discussion with your doctor about hATTR.

Download Discussion Guide

Are you at risk?

Take the risk assessment

Start the conversation with your doctor

Hear from people living with hATTR amyloidosisIf you think you may be experiencing symptoms of hATTR amyloidosis, the first step is to have a discussion with your doctor. Bring this discussion guide to your next GP or specialist appointment – it covers everything you need to have an informed discussion with your doctor about hATTR.

Download Discussion Guide »
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Linart A, The heart in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds). Fabry Condition: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 20.