Hereditary ATTR (hATTR) amyloidosis – what this could mean for you
ABOUT hATTR AMYLOIDOSIS
hATTR amyloidosis is a rare, progressive, and life-threatening hereditary disease. Misdiagnosis is common and it can often take patients several years to get the correct diagnosis. It is important to advocate for your health by looking out for the signs and symptoms of this rare disease. Reviewing your responses to the risk questionnaire below with your doctor may help you better understand your symptoms and what they could mean for you.
THE FOUNDER POPULATIONS
When it comes to rare diseases such as hATTR amyloidosis, certain populations are more at risk of having it than others because of a phenomenon called the founder effect. Namely, individuals of Irish, Japanese, Portuguese, Swedish and/or West African descent are more susceptible to having this rare condition. In the United States, one of the most common hATTR amyloidosis mutations has been traced back to individuals of Portuguese descent.
Since hATTR amyloidosis is a genetic disease that is passed down through family members, it is important to learn about your family history to see what this could mean for you.
Fill out the risk questionnaire below to help find out if this may apply to you.
Carpal tunnel syndrome (often in both wrists)*
- Pain and numbness or tingling in the wrists and hands caused by disturbances in nerve function
Tingling, numbness or pain in feet, hands and/or lower extremities
- Nerve damage beginning in the hands and feet that can progress to the central part of the body
- Difficulty walking
Symptoms related to the eyes, often causing visual changes
- Dark floaters (spots in your vision)
- Glaucoma (can lead to vision loss or blindness)
- Eyelid swelling and inflammation
- Abnormal blood vessels in the eye
- Nausea and vomiting
- The inability to eat a full meal or feeling full after only a small amount of food
- Severe constipation
- Constipation or diarrhea that may alternate
- Unintentional weight loss
- Irregular heartbeat
- Delay or blockage of the electrical signals in the heart
- Cardiomyopathy (disease of the heart muscle)
- Thickening of heart muscle
- Pain, tingling or numbness of lower extremities caused by nerve compression in the spine due to narrowing of the spinal canal
Damage to the nerves that control internal organs (autonomic neuropathy)
- Sexual dysfunction
- Sweating abnormalities
- Dizziness upon standing after sitting or lying down caused by low blood pressure
- Recurrent urinary tract infections (due to urinary retention)
- Kidney failure
- Protein in urine (foamy, frothy or bubbly-looking urine)
The wide and varying range of hATTR amyloidosis symptoms presents a diagnostic challenge, often resulting in delayed or missed diagnoses. For this reason, genetic testing is crucial as it allows your doctor to confirm or rule out a diagnosis of hATTR amyloidosis.
Confidential genetic testing is requested by your doctor and can be delivered directly to your home.
- Genetic testing kits can be ordered online and delivered straight to your door.
- You can work with your doctor to collect the blood or saliva DNA samples required.
- Your DNA samples will be analyzed and the results sent straight to your doctor.
Assistance is available to help you understand your results.
FREE information line for education on amyloidosis and testing
Staff are available from 9 am ET / 8 am CST – 6 pm ET / 5 pm CST to answer your questions.