hATTR amyloidosis – could you be at risk?



Hereditary transthyretin (hATTR) amyloidosis is a serious but treatable condition and you could be at risk. While it is a rare disease, one of the mutations that causes hATTR amyloidosis may affect 3 to 4% of African-Americans in North America. Misdiagnosis of hATTR amyloidosis is common and it can often take patients several years from symptom onset to get the right diagnosis and start treatment. It is important to advocate for your health by looking out for the signs and symptoms of this rare disease. Determining if you are at risk with your doctor can help speed up the diagnostic process.


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. One of the founder populations of one of the mutations that causes hATTR amyloidosis can be traced back to West Africa. For this reason, in North America, individuals of African-Caribbean descent, including those from the islands of Haiti, Jamaica and Bermuda, are those that are at a higher risk of carrying this mutation, and thus, of having this rare disease. 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.

If you have symptoms of hATTR amyloidosis or if it runs in your family, genetic testing is a crucial step in getting correctly diagnosed.


You have a hand in your health. Ask your doctor for more information about genetic testing for hATTR amyloidosis.


Carpal tunnel syndrome in both wrists and hands*
  • Pain and numbness or tingling in the wrists and hands caused by disturbances in nerve function
* Patients often have a prior history of surgery for carpal tunnel syndrome before being diagnosed with hATTR amyloidosis.
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)
Symptoms related to the heart, blood vessels and circulation
  • Irregular heartbeat
  • Delay or blockage of the electrical signals in the heart
  • Cardiomyopathy (disease of the heart muscle)
  • Thickening of heart muscle
  • Intolerance to certain heart medications
  • Heart disease
Weakness, numbness and pain from nerve damage (peripheral sensory-motor neuropathy)
  • Nerve damage beginning in the hands and feet that can progress to the central part of the body
  • Difficulty walking
Kidney disease
  • 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
  • Nausea and vomiting
  • The inability to eat a full meal or feeling full after only a small amount of food
  • Diarrhea
  • Severe constipation
  • Alternating episodes of diarrhea/constipation
  • Unintentional weight loss
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



Take this short survey to find out if you are at risk for hATTR amyloidosis.


    AKCEA Therapeutics, Inc.

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