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.

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.

Start Assessment

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?

Yes No

Question 2 of 12

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

Yes No

Question 3 of 12

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

Yes No

Question 4 of 12

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

Yes No

Question 5 of 12

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

Yes No

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?

Yes No

Question 7 of 12

Have you experienced unintentional weight loss?

Yes No

Question 8 of 12

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

Yes No

Question 9 of 12

Do you have a history of carpal tunnel syndrome?

Yes No

Question 10 of 12

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

Yes No

Question 11 of 12

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

Yes No

Question 12 of 12

What is your family heritage or background?

Scandinavian

Asian

Portuguese or Southern European

United Kingdom

African-Caribbean

South American

Haitian

Other

Results

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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.

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Find out more…

Hear from people living with hATTR amyloidosis

Resources

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

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Conceição I, J Peripher Nerv Syst. 2016;21(1):5-9.
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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.