hATTR Amyloidosis – rare, genetic disease disproportionate in those of Portuguese descent.

Hereditary ATTR (hATTR) amyloidosis is a rare, genetic condition that affects an estimated 50,000 people worldwide. hATTR amyloidosis is caused by a gene change, or variant, that affects the function of a protein called transthyretin (TTR). In hATTR amyloidosis, the TTR gene change causes the protein to take on an abnormal shape and misfold, which causes the TTR protein to build up in various parts of the body, including the nerves, heart, and digestive system.

Although anyone can be at risk for this disease, it is more common for people of certain ethnicities, such as those of Portuguese descent, including Brazilians, Cabo Verdeans, Equatorial Guineans, Mozambicans, and others.

Northern Portugal has the largest cluster worldwide of individuals living with hATTR amyloidosis. Nearly 1 in every 1000 Portuguese originating from Póvoa de Varzim and Vila do Conde may be affected by the disease. There are more than 120 gene variants known to be associated with hATTR amyloidosis. Individuals of Portuguese descent have a high prevalence of the V30M variant, which is the most common and is associated with nerve symptoms of numbness, tingling, and burning pain in hands and feet. People of Portuguese descent experience earlier onset symptoms, with 87% experiencing symptoms before age 40.

As a hereditary disease, hATTR amyloidosis is passed down through family members. If one parent has hATTR amyloidosis, each child will have a 50% chance of inheriting the variant from that parent. However, inheriting the variant does not necessarily mean that they will develop hATTR amyloidosis.

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PALCUS will join with Alnylam to present hATTR Amyloidosis: Portuguese Community Disproportionately Affected By A Rare, Inherited, Rapidly Progressive Disease

Hear from Dr. Gurpreet Sodhi, a healthcare professional experienced in the management of hATTR amyloidosis, and Sue Living, a patient living with hATTR amyloidosis. Learn how to recognize the signs and symptoms of the disease, how it is passed down, and where to find additional educational resources.  

Date: Wednesday, October 27^th, 2021 Time: 7:30-9 PM EST –

Register Now

www.hATTRPEL.com offers a variety of resources to patients and family members. They have an Alnylam Patient Education Liaison who can answer questions, as well as education resources and information. Go to: www.hATTRPEL.com for additional information.

To read more about symptoms, go here:

https://www.alnylam.com/wp-content/uploads/pdfs/Hereditary-ATTR-Amyloidosis-Backgrounder.pdf