Today, 26 October 2023, is World Amyloidosis Day, a day dedicated to raising awareness about the rare disease amyloidosis and the key issues and challenges for patients. A central theme for the day, organised by the Amyloidosis Alliance, alongside amyloidosis patient organisations from across the globe, is improving the diagnosis experience of patients.
Amyloidosis is a group of rare, serious conditions caused by a build-up of an abnormal protein called amyloid in organs and tissues throughout the body. The rarity of amyloidosis and the non-specificity of symptoms make it very difficult to diagnose. The significance of an early diagnosis for amyloidosis patients cannot be overstated, as it plays a vital role in ensuring patients receive timely treatment, improving quality of life and improving survival.
To help overcome this, Myeloma Patients Europe (MPE), an umbrella organisation of 49 European myeloma and AL amyloidosis patient groups, has developed an important tool called the Amyloidosis Diagnosis Pathway. The Pathway is a diagnosis tool for general practitioners (GPs) outlining the main types of amyloidosis, the signs and symptoms, and the tests and investigations that should be considered if amyloidosis is suspected.
The Pathway will be widely shared with MPE members to provide to GPs in their countries. It will be translated into different European languages and MPE will work with stakeholders to develop dissemination strategies for the Pathway upon request. The first example is with AMILO, MPE amyloidosis member in Spain, who is launching the Pathway on 27 October 2023 at their World Amyloidosis Day 2023 event during the 65th National Congress of Spanish Society of Haematology and is working on an ongoing national campaign.
Kate Morgan, Co-Chief Executive Officer at MPE, explained:
¨Unlocking better quality of life and survival for amyloidosis patients begins with timely diagnosis. On World Amyloidosis Day, MPE wants to disseminate useful and evidence based tools that can help GPs to better identify the different types of amyloidosis and how they should handle a diagnosis. We hope to reach many GPs across Europe with the Pathway, combining it with other educational strategies to improve patient outcomes.”
You can explore the Amyloidosis Diagnosis Pathway here.
Delay in the diagnosis
To gain deeper insights into this challenging disease, MPE conducted a study revealing significant delays in the diagnosis of AL amyloidosis among many patients. AL amyloidosis, a disease related to the cancer myeloma, occurs when abnormal plasma cells in the bone marrow produce misfolded light chain proteins (amyloid proteins). These enter the blood stream and form amyloid deposits in the tissues and vital organs, causing complications.
The MPE study found that approximately 47% of AL amyloidosis patients waited 5 months or more to get a diagnosis and 22% waited over a year. In contrast, 62% of haematologists stated it took their patients 5 months or more to get a diagnosis. The study also found that patients often wait too long before presenting to the GP with symptoms, which further delays a patient entering the healthcare system.
The study used a mixed-methods research methodology, beginning with a pan-European survey and followed by patient and haematologist interviews. In total, 63 patients and 16 haematologists from 19 countries participated in this research, which explored AL amyloidosis diagnostic experiences, the impact of a delayed diagnosis and potential solutions.
Katie Joyner, Co-Chief Executive Officer at MPE, stated:
¨The MPE AL amyloidosis study showed that 20% of patients are not correctly diagnosed until two years or longer after the first symptoms appear. Our aim this World Amyloidosis Day is to raise awareness of the challenges patients face and continue to strive for better results in early diagnosis. ¨
You can explore the findings of the MPE report ¨AL Amyloidosis Diagnosis Experiences in Europe¨ here.