Thousands of patients have varying types of transthyretin amyloidosis (ATTR) around the world, but it is still an underdiagnosed and underrecognised disease.1,2
What is amyloidosis?
Amyloidosis is a progressive disease with varying subtypes and symptoms across patient groups.2-4 The condition arises when a protein called amyloid builds up in certain body parts such as the heart, kidneys, liver, nervous system and digestive tract. 2 The buildup of the amyloid protein then negatively impacts the function and health of the affected organs.3 There are both hereditary and non-hereditary forms of amyloidosis. 3,4 Patients with amyloidosis have care options to help manage their symptoms, but currently, there is no cure for the disease.5
One type of amyloidosis that can be challenging to diagnose is transthyretin amyloidosis (ATTR).2 For patients with ATTR, their livers produce transthyretin proteins that misfold and build up in other parts of the body, such as organs and tissues.6 These misfolded proteins, called fibrils, cause damage to the body the more they accumulate.2 ATTR is progressive, systemic and potentially fatal.2
How many types of ATTR are there?
There are two main types of ATTR: cardiomyopathy (CM), which can lead to heart failure, and polyneuropathy (PN).2,7 It can be hard to find and treat the thousands of patients impacted by ATTR across the globe due to lack of awareness or delayed diagnosis, so many typically do not live for more than two to five years after they receive their initial diagnosis, depending on the type of ATTR.2,8
Signs and symptoms of ATTR are commonly misattributed to other conditions, often resulting in misdiagnoses and treatment delays.9,10 Growing understanding of the drivers of ATTR and recognition of the role it plays in mortality has made the disease a priority for our team.2
Without increased awareness and scientific advancements, ATTR will continue to be misdiagnosed, adversely impacting patients’ health.11
Patients with ATTR often face a difficult and complex journey towards getting the help they need. The first hurdle is getting a diagnosis, which is often a lengthy process.9 Health care teams commonly misattribute the symptoms of ATTR to other conditions, requiring visits to different types of physicians before patients receive a correct diagnosis.9
To increase ATTR patients’ access to care management strategies, greater awareness and knowledge of the condition and how to detect it is vital. Education can help increase the likelihood people with the disease receive a timely and accurate diagnosis to improve their prognosis and quality of life.1
Additional research and innovation are also key to advancing the understanding of both ATTR-CM and ATTR-PN.
At AstraZeneca, we’re committed to raising awareness of ATTR and other amyloidosis conditions as well as advancing the science and understanding of these devastating diseases. Efforts must be focused on deepening knowledge of amyloidosis with the aim of stopping the condition in its tracks. We believe that through increased awareness, accurate and earlier diagnoses and dedication to advancing the science, the medical community will be well positioned to help more people with ATTR in current and future generations combat this devastating disease.
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References
1. Coelho T, et al. Design and Rationale of the Global Phase 3 NEURO-TTRansform Study of Antisense Oligonucleotide AKCEA-TTR-LRx(ION-682884-CS3) in Hereditary Transthyretin-Mediated Amyloid Polyneuropathy. Neurol Ther. 2021 Jun;10(1):375-389.
2. Gertz M, Adams D, Ando Y, Beirão JM, Bokhari S, Coelho T, et al. Avoiding misdiagnosis: Expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner [Internet]. BMC family practice. BioMed Central; 2020 [cited 2022Oct11]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513485/
3. Amyloidosis [Internet]. NORD (National Organization for Rare Disorders). 2020 [cited 2022Oct11]. Available from: http://rarediseases.org/rare-diseases/amyloidosis/
4. González-Duarte A, et al. Impact of non-cardiac clinicopathologic characteristics on survival in transthyretin amyloid polyneuropathy. Neurol Ther. 2020;9(1):135-149. doi:10.1007/s40120-020-00183-7.
5. Amyloidosis facts - leukemia & lymphoma society [Internet]. Leukemia & Lymphoma Society ; 2015 [cited 2022Oct11]. Available from: http://llscorp.stg.lls.org/sites/default/files/2021-05/Amyloidosis_FINAL.pdf
6. Ellahham S.H. [Internet] American College of Cardiology. Emerging Therapeutics for Cardiac Transthyretin Amyloidosis. American College of Cardiology [cited 26 May 2022]. Available from: http://www.acc.org/latest-in-cardiology/articles/2020/08/06/08/12/emerging-therapeutics-for-cardiac-transthyretin-amyloidosis.
7. Rintell D, et al. Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups. Orphanet J Rare Dis. 2021;16:7.v
8. Grogan M, Dispenzieri A, Carlsson M, Stewart M, Schumacher J. A survival analysis of subjects with transthyretin amyloid cardiomyopathy from the transthyretin amyloidosis outcomes survey [Internet]. Journal of Cardiac Failure. Elsevier; 2017 [cited 2022Oct11]. Available from: http://www.onlinejcf.com/article/S1071-9164(17)30332-9/fulltext#relatedArticles
9. Benson MD, Dasgupta NR, Rao R. Diagnosis and screening of patients with hereditary transthyretin amyloidosis (hattr): Current strategies and guidelines [Internet]. Therapeutics and clinical risk management. Dove; 2020 [cited 2022Sep30]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434568/#:~:text=The%20diagnosis%20of%20hereditary%20ATTR,
%2C%20kidney%2C%20or%20gastrointestinal%20tract.
10. Lauppe RE, et al. Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden. Open Heart. 2021;8(2):e001755.
11. Maurer MS, Mathew S. Maurer Mathew S. Maurer, Bokhari S, Sabahat Bokhari Division of Cardiology, Damy T, Thibaud Damy Department of Cardiology, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis [Internet]. Circulation: Heart Failure. 2019 [cited 2022Oct11]. Available from: http://www.ahajournals.org/doi/full/10.1161/CIRCHEARTFAILURE.119.006075
Veeva ID: Z4-45072
Date of preparation: October 2022