Panel of Advocates and Providers Craft Recommendations for Care of People with hATTR Amyloidosis
September 6, 2023
Rare Daily Staff
An expert panel of patient advocates and providers have published the first-ever recommendations for patient-and family-centered holistic care for people living with hereditary transthyretin-mediated amyloidosis, also known as hATTR or ATTRv.
Hereditary transthyretin-mediated (hATTR) amyloidosis is an inherited, progressively debilitating, and fatal disease caused by variants in the TTR gene. TTR protein is primarily produced in the liver and is normally a carrier of vitamin A and thyroxin. Variants in the TTR gene cause abnormal amyloid proteins to accumulate and damage body organs and tissue, such as the peripheral nerves and heart, resulting in intractable peripheral sensory-motor neuropathy, autonomic neuropathy, and/or cardiomyopathy, as well as other disease manifestations. hATTR amyloidosis represents a major unmet medical need with significant morbidity and mortality affecting approximately 50,000 people worldwide. The median survival is 4.7 years following diagnosis, with a reduced survival (3.4 years) for patients presenting with cardiomyopathy. Variant transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited disease, where the mutation of the transthyretin gene (TTR) results in the deposition of pathogenic protein fibrils in various tissues.
The recommendations, published in the journal BMJ Open, were developed by The Primary Consensus Panel, a joint patient and healthcare professional collaborative forum established in 2020 to develop these consensus recommendations and advocate for improved standards of holistic care in hATTR amyloidosis.
The panel consists of 14 multidisciplinary members from eight countries representative of patients, patient advocacy groups, key clinical specialties (neurology, cardiology, physiotherapy, psychology, nutrition, and nursing), and industry (Alnylam Pharmaceuticals).
The panel calls for early diagnosis, treatment initiation, and coordinated multidisciplinary care, as well as open dialogue between healthcare providers and patients to support shared decision-making and consistent monitoring of disease progression. The recommendations also highlight the importance of a tailored family-centered care plan inclusive of supportive care to enable patients to preserve their independence and quality of life.
“hATTR amyloidosis is an inherited, progressively debilitating, and often fatal multisystem disease. Its complexity and severity mean every aspect of a person’s life is affected,” said Laura Obici, primary consensus panel co-chair and internist at the Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy. “These recommendations provide healthcare professionals with a new blueprint for care that can potentially have a significant impact on a patient’s quality of life. We must start to think beyond treating a patient’s symptoms to other allied healthcare services that can help with the physical, psychological, social, and spiritual aspects of living with this disease.”
The panel developed 50 recommendations that were tested via a robust International Delphi Survey of 122 providers and patient advocacy group representatives from 27 countries. The international healthcare provider-patient advocacy community endorsed 98 percent of the recommendations, which focused on seven core areas aimed to improve patient care: early diagnosis and access to treatment, disease monitoring and organization of care, maintenance of physical and mental health, family-centered care and caregiver support, patient-provider dialogue and shared decision-making, access to community social support, and spiritual support and social networking.
“These recommendations underscore the importance of more robust holistic care plans to bring us one step closer to ensuring people living with hATTR amyloidosis are empowered to live life to the fullest,” said Rosaline Callaghan, primary consensus panel co-chair and founder of Amyloidosis Ireland.
In addition to testing the level of agreement for each recommendation, the survey asked voters to assess the current degree of implementation of each recommendation in their institution or practice. Most providers considered certain recommendations on early diagnosis and intervention, genetic counselling and testing, nutritional support, and tailored care provided at specialist centers to be part of standard practice. However, the majority of recommendations were considered achievable with currently available resources, and many were assessed to be attainable only with further funding and reorganization of care. The findings highlight the need for further discussion and guidance on how to develop services to address the complex needs of those affected by this rare disease.
Alnylam Pharmaceuticals funded the study and the presentations and publications that emerged from it.
Sign up for updates straight to your inbox.