AMYLOIDOSIS: KNOW IT, DETECT IT, TREAT IT

Today is #WorldAmyloidosisDay and we’re proudly showing our support! Together with @Amyloidosis Alliance and the broader #amyloidosis community, @Alnylam Pharmaceuticals commit to #bethelink to help raise awareness of this complex #RareDisease. Learn more here https://www.worldamyloidosisday.org/

On 26 October 2021 by decision of the World Health Organisation, World Amyloidosis Day is commemorated, a disease considered rare due to its low prevalence - around 50,000 patients worldwide - and which is caused by a protein metabolism disorder in which a substance called amyloid is deposited extracellularly. Why should we be aware of the existence of this disease? Basically, because a correct diagnosis is essential, and taking into account its symptoms - tiredness, exercise intolerance, dizziness, lightheadedness, edema in the body, chronic kidney disease, anemia, as well as manifestations in other organs, including cardiac and neurological ones such as tingling or numbness in the upper and lower limbs - confusion and incorrect diagnosis is quite common, delaying in some cases up to six years on average the diagnosis of amyloidosis from the time the first symptoms appear.

I have entitled this post KNOW IT, DETECT IT, TREAT IT, because these three steps are essential to making life easier for these patients. Firstly, there needs to be greater awareness of the disease, not only in society but also among health professionals, especially those who are not specialized in the disease and in primary care. It is very important that various health professionals are aware of the warning signs in order to identify the early onset of the disease. Secondly, complete and specialized multidisciplinary teams are needed, including beyond clinical specialists such as neurologists, cardiologists, and internal medicine, professionals in psychology, physiotherapy, podiatry, occupational therapy, and social work, so that the approach is not only focused on the medical side but also includes the more psychosocial side, as well as the availability of referral hospitals. And, thirdly, thanks to new research and development patients should have fast access to the best treatment options to relieve their symptoms based on their individual condition and always under the HCP supervision.

From our position as a pharmaceutical company involved in improving the quality of life of these patients, we need to develop drugs that are effective at all levels and organs affected by this disease because when amyloid initiates to accumulate in the organs is when the situation really gets complicated, and that is where we are focusing our efforts.

And let me make one last point: all this is necessary, no doubt, but in addition to knowledge, screening, and treatment, amyloidosis patients need something more: they need to feel that they are with them, that they are understood, supported and that physical treatment is complemented by strong moral support.

Sergio Bullón

Country Manager Alnylam Pharmaceuticals Spain