Amyloidosis

Dane, living with hATTR amyloidosis

Amyloidosis

Understanding Hereditary ATTR Amyloidosis

Hereditary ATTR (hATTR) amyloidosis is an inherited, progressive disease caused by a genetic mutation that results in the misfolding of transthyretin (TTR) proteins. This results in the formation of amyloid fibrils that could deposit in the nerves, heart, and/or gastrointestinal (GI) tract.

hATTR amyloidosis affects approximately 50,000 people worldwide. Many people remain undiagnosed or misdiagnosed.

How does hATTR amyloidosis affect the body?

People with hATTR amyloidosis have a genetic mutation that prevents TTR protein, which is made in the liver, from having its normal structure. Instead, TTR misfolds and accumulates as amyloid deposits in the body—in the heart, nerves, and GI tract, as well as other organs—causing debilitating symptoms.

Symptoms associated with this condition

hATTR amyloidosis symptoms can vary from person to person, depending on which organs or tissues are affected, and can worsen as the disease progresses. Symptoms may include:

  • Loss of sensation, limb weakness and pain
  • Alternating episodes of diarrhea, constipation, nausea, and vomiting
  • Heart-related issues

 

For a complete list of symptoms, see the hATTR amyloidosis Backgrounder below.

Learn more about hATTR amyloidosis

Download the Alnylam hATTR amyloidosis Backgrounder.

This is one family’s story

“Amyloidosis has kind of been the black cloud over my family.” – Tonya, family living with hATTR amyloidosis

Know Your Family History

THE BRIDGE

The BridgeTM is a program designed to help raise awareness of hereditary ATTR (hATTR) amyloidosis and promote education on the condition for patients and their families.

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ALNYLAM ACT

Alnylam Act provides no-charge, independent genetic testing and counseling to individuals in the US who may have hATTR amyloidosis.

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ALNYLAM ASSIST

Alnylam AssistTM helps patients access ONPATTROTM (patisiran) with personalized support.

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NOW APPROVED

Learn more about a newly approved treatment option available for patients in the US.

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Please see Important Safety Information and link to full Prescribing Information below.

INDICATION

What is ONPATTROTM (patisiran)?

ONPATTRO is a medicine that treats the polyneuropathy caused by an illness called hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis). ONPATTRO is used in adults only.

IMPORTANT SAFETY INFORMATION

What are the most important things I should know about ONPATTRO?

ONPATTRO can cause:

• Infusion-related reactions
ONPATTRO is given as a drip into a vein (called an “intravenous infusion”). Reactions to this infusion may happen during treatment with ONPATTRO. Before each infusion you will be given medicines that help to lower the chance of infusion-related reactions.

Tell your doctor or nurse right away if you experience any of the following signs of an infusion-related reaction during treatment:

• Reddening of the face or body (flushing), skin warm
• Body aches or pain, including pain in the back, neck, or joints
• Feeling sick (nausea)
• Stomach pain
• Feeling short of breath, cough, or other breathing problems
• Headache
• Chest discomfort or chest pain
• Rash
• Chills
• Dizziness
• Feeling tired (fatigue)
• Rapid heart rate
• Facial swelling

If you have an infusion-related reaction, your doctor or nurse may slow down or stop your infusion, and you may need to take other medicines. When these reactions stop, or get better, your doctor or nurse may decide to start the infusion again.

• Low Vitamin A levels
Treatment with ONPATTRO lowers the amount of vitamin A in your blood. Your doctor will tell you to take a vitamin A supplement every day. You should not take more than the amount of vitamin A recommended by your doctor.

Low vitamin A levels can affect vision. If you have problems with your vision (e.g., night blindness) while taking ONPATTRO, talk to your doctor. Your doctor may refer you to an eye specialist.

What are the common side effects of ONPATTRO?

The most common side effects of ONPATTRO are respiratory infections, such as colds, sinus infections, and nasal congestion, and infusion-related reactions. These are not all the possible side effects of ONPATTRO. Talk to your doctor about side effects that you experience. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

For additional information about ONPATTRO, please see the full Prescribing Information.

References

  1. Gertz MA, Benson MD, Dyck PJ, et al. J Am Coll Cardiol. 2015;66(21):2451-2466.
  2. Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
  3. Plante-Bordeneuve V. J Neurol. 2014;261(6):1227-1233.
  4. Hanna M. Curr Heart Fail Rep. 2014;11(1):50-57.
  5. Damy T, Judge DP, Kristen AV, et al. J Cardiovasc Transl Res. 2015;8(2):117-127.
  6. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  7. Mohty D, Damy T, Cosnay P, et al. Arch Cardiovasc Dis. 2013;106(10):528-540.
  8. Sekijima Y, Yoshida K, Tokuda T, Ikeda S. 2001 Nov 5 [Updated 2012 Jan 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2017. https://www.ncbi.nlm.nih.gov/books/NBK1194/.
  9. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.

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