Founder and CEO, Amyloidosis Research Consortium
October 26th is World Amyloidosis Day, and transthyretin amyloidosis (ATTR) is a rare disease that is often underdiagnosed and undertreated.1 In honor of those with ATTR, AstraZeneca is committed to raising awareness and shining a light on the challenges of living with this disease.
We sat down with Isabelle Lousada, Founder and CEO of the Amyloidosis Research Consortium (ARC), to learn more about the journey for patients and ARC’s work to advocate for individuals with ATTR and other amyloidosis diagnoses.
The Basics: About Amyloidosis and ATTR
What is amyloidosis? This systemic disease is caused by a protein called amyloid building up in various parts of the body, such as the heart, kidneys, liver, nervous system and digestive tract.2 Amyloidosis comes in many forms – some types are hereditary, and some can be caused by other diseases.
While all forms of amyloidosis have the potential to be devastating diseases, ATTR is the most common type of hereditary amyloidosis and is often underdiagnosed. 2 This disease is caused by mutations in the transthyretin gene, and it often affects the cardiac and peripheral nervous systems. 1 This can lead to cardiomyopathy (CM) and polyneuropathy (PN), which can bring challenging symptoms to patients, such as fatigue, insomnia, diarrhea/constipation, and sensory deficits.3
The Journey to Diagnosis
Because signs and symptoms of ATTR can be misattributed to other conditions, patients often have a difficult time arriving at a proper diagnosis. These delays and the complex journey to receiving care and support can take both an emotional and physical toll.
Isabelle explained that ATTR doesn't always come to mind for physicians. “Symptoms can be nonspecific and are similar to those of other more common diseases, and so in many cases can lead to a misdiagnosis,” she said. “ATTR patients can present with different symptoms, especially with hereditary ATTR where patients may present with neurological or cardiac symptoms first. This makes it even more challenging to diagnose and increases the delays in diagnosis.”
Even after a diagnosis, the journey can be difficult for patients. “To be diagnosed with a disease that you can't even pronounce, you have never heard of, and physicians don't really understand is really challenging. And the need to learn about the disease, to be your own mentor, do your own research, and find the best care is incredibly complex,” Isabelle said.
Because of these challenges, those with ATTR need to work closely with their doctors to develop an appropriate treatment plan. Isabelle shared that “having a care team that really knows about ATTR is really beneficial. It can mean that patients have access to clinical trials and the latest standard of care.”
Advocating for the Community
Isabelle has a deep understanding of the difficulties this community faces because she lives with another form of amyloidosis herself – amyloid light chain (AL) amyloidosis.
“It took probably about a decade for me to get diagnosed,” Isabelle said. “What I had was slowly declining health. There were many things that were ruled out. But that's something we really still see in the patient experience. It's often the really tenacious patients that go to numerous physicians, often multiple cardiologists, that get diagnosed – and that's not available to the majority of people. So that's a real concern, and we need to do better and address that disparity.”
Isabelle shared that her diagnosis changed her life completely. “I was an architect. I was working full time and it took about three years before I could get back to work. One of the side effects of treatment was that it impacted my fertility, so our plans to build a family significantly shifted. It felt like I was living on borrowed time, and nobody had lived or survived with this disease for more than a year or two.”
Thanks to treatment, Isabelle was able to recover significantly and see regression in the disease. Her experience “really shifted what I felt I could do and where I could have an impact in the world, and so my career trajectory took a complete 180.”
Since then, she has committed her life to advocacy, founding the Amyloidosis Research Consortium to help patients like herself. ARC is a nonprofit organization dedicated to driving advances in the awareness, science, and treatment of amyloid diseases.4 Through ARC, Isabelle has been able to gather stakeholders in the community to work together in advancing outcomes for patients.
Isabelle encourages patients and physicians alike to work with organizations like ARC “to make sure they’re getting the latest information, understand the latest diagnostic tools, and receive help in making informed decisions about where to get the best treatment and access to clinical trials.”
Compared to when she was diagnosed 25 years ago, the future for those with amyloidosis is much brighter. In thinking about the future, Isabelle said “I think patients should feel very optimistic about a very different future. I would say there’s real hope. The amyloidosis landscape is fast changing and evolving.”
AstraZeneca’s Commitment to Increasing Awareness
At AstraZeneca, we believe that raising awareness of ATTR and how to detect it can help patients receive a more timely and accurate diagnosis. We’re committed to bringing focus to this patient community with the hope that more education, combined with advancements in the scientific landscape, will bring about better outcomes for those living with this disease.
References
- 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: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513485/
- Amyloidosis [Internet]. NORD (National Organization for Rare Disorders). 2020 [cited 2022Oct11]. Available from: https://rarediseases.org/rare-diseases/amyloidosis/
- 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.
- About ARC. Amyloidosis Research Consortium. Available from: https://arci.org/about-arc/