Hereditary ATTR (hATTR) amyloidosis – it could be hidden in your genes
ABOUT hATTR AMYLOIDOSIS
hATTR amyloidosis is a rare, progressive, and life-threatening hereditary disease that could be hidden in your genes. 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 U.S., hATTR amyloidosis may affect between 3% to 4% of African Americans.
Since hATTR amyloidosis is a genetic disease that is passed down through family members, it is important to go back to your roots and learn about your family history – this disease could be hidden in your genes.
“Access to adequate healthcare free of discrimnation should be a given for all. However, you have a hand in your health. Be empowered to seek medical care without fear of being discounted if you have symptoms of hATTR amyloidosis or if it runs in your family. Genetic testing is a crucial step in confirming a hATTR amyloidosis diagnosis – not only for yourself, but for your family as well.”
- Ugochukwu O. Egolum, MD, FACC
Medical Director, Advanced Heart Failure and Transplant Cardiology
The Heart Center of Northeast Georgia Medical Center
You have a hand in your health. Fill out the risk questionnaire below to help find out if this may apply to you.
Dr. Ugochukwu O. Egolum,
- Carpal tunnel syndrome
- Damage to the nerves
- Gastrointestinal issues
- Tingling, numbness or pain
- Kidney disease
- Spinal stenosis
- Heart problems
- The eyes
- Click to find out more
Carpal tunnel syndrome (often in both wrists)*
- Pain and numbness or tingling in the wrists and hands caused by disturbances in nerve function
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)
- Nausea and vomiting
- The inability to eat a full meal or feeling full after only a small amount of food
- Constipation or diarrhea that may alternate
- Unintentional weight loss
Tingling, numbness or pain in feet, hands and/or lower extremities
- Nerve damage beginning in the hands and feet that can rapidly progress to the central part of the body
- Difficulty walking
- Kidney failure
- Protein in urine (foamy, frothy or bubbly-looking urine)
- Pain, tingling or numbness of lower extremities caused by nerve compression in the spine due to narrowing of the spinal canal
- Irregular heartbeat
- Delay or blockage of the electrical signals in the heart
- Cardiomyopathy (disease of the heart muscle)
- Thickening of heart muscle
- Intolerance to heart failure medications
- Family history of heart failure
- Shortness of breath
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
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.
“Having nine siblings, I thought my symptoms were part of the common conditions we saw in our family. It wasn’t until my physician ordered genetic testing that I realized I truly do have a family disease, hereditary Amyloidosis. To me, encouraging genetic testing for your family members shows how much you care.”
-Ruth, a patient with hATTR amyloidosis
When it comes to confirming a diagnosis of hATTR amyloidosis, genetic testing is a crucial part of the process.
To help facilitate a conversation with your doctor, complete the risk questionnaire yourself or with the help of your caregiver.