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Unmet Needs in hATTR Amyloidosis in Europe

key information

source: Global Alliance for Patient Access

year: 2021

summary/abstract:

People living with rare diseases face a unique set of challenges, from reaching a timely and accurate diagnosis to accessing treatment. Although individual rare diseases may impact only a small population, there are about 30 million people living in Europe with one of 6,000 identified rare diseases.

One such rare disease is hereditary transthyretin (hATTR) amyloidosis. It is caused by a hereditary gene mutation that leads to a build-up of abnormal protein in different bodily organs. The disease causes debilitating cardiovascular, neurological, renal or other symptoms. As the disease progresses, patients can experience difficulty walking, fatigue, chest pain, and weakness and pain in their limbs, making it difficult to continue with their normal lives.

Due to the complex nature of hATTR amyloidosis, and the impact on different organs, reaching a diagnosis can be a complex process. When hATTR amyloidosis is diagnosed and treated in a timely manner, however, disease progression can be stopped, giving patients hope for a better quality of life.

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