The World Heart Federation (WHF) convened a special forum May 17-18, 2023 in Geneva, Switzerland, entitled “SHINING A LIGHT ON RARE CARDIOVASCULAR DISEASES” in advance of the 2023 World Heart Summit held May 19-21. Patient representatives with lived experience with four rare cardiovascular diseases were invited to bring the patient perspective and lend their voice to shape WHF’s strategies to address diagnosis and treatment of these rare CVD’s:
The panel was comprised of patient representatives of the following four rare CVD’s:
- Pulmonary arterial hypertension (PAH),
- Homozygous Familial Hypercholesterolemia (HoFH)
- Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
- Hereditary Hypertrophic Cardiomyopathy
The forum opened with statements from Dr. Daniel Piñeiro, President of WHF, reminding us that:
- Health is a human right, and all patients deserve a longer life, and a better quality of life.
- The voice of patients themselves is better than physicians speaking on patients’ behalf.
Physician specialists for each of the four rare diseases presented to the group. Dr Nikki Bart, University of New South Wales, Australia, joined the forum remotely to address key challenges facing ATTR-CM patients. Dr. Bart highlighted several key areas of affecting ATTR-CM disease diagnosis and management including delays in diagnosis and access to treatment.
Keith Dares of Canada, a member of Amyloidosis Alliance, is a patient living with ATTR-CM. Keith was pleased to participate in the forum to share his journey to diagnosis, as well as how living with ATTR-CM impacts his daily activities. The breakout sessions yielded considerable group discussion, identifying areas for improvement:
What is needed to shorten the timeline to accurate diagnosis?
How to better equip the general practitioners to avoid missed or incorrect diagnosis: can we encourage “ruling out” amyloidosis earlier, rather than later, in the diagnosis protocols? Can we develop a tool to “red-flag” situations, to yield an earlier diagnosis?
How to deal with the inequality of diagnosis for the female patients?
What models are available for “Centres of Excellence”? How can we achieve better access to better care?
How do we reduce barriers to increase access to therapies?
When the final reports were presented on day two, it was interesting to see the common challenges faced by the four rare CVD patient communities. Also interesting was the potential currently being investigated for Artificial Intelligence and “machine learning” to be harnessed to aid in shortening the diagnoses timeframes.
It is the goal of the Word Heart Federation to use the information shared by the patients to develop a work plan to address challenges to the diagnosis, treatment and care of those living with rare cardiovascular diseases.
