We need to talk about the zebra in the room: ATTR-CM and the patients we’re missing

In medicine, there’s a principle: ‘when you hear hoofbeats, think horses, not zebras’

For patients with less obvious conditions like transthyretin amyloid cardiomyopathy (ATTR-CM), that principle can come at a cost. ATTR-CM is often described as ‘rare’, but more accurately, it is rarely diagnosed.

Earlier this year, we reflected on what it means to live with a rare disease, from delayed diagnosis to fragmented care and the growing importance of patient-centred innovation. Today, as part of our rare disease spotlight series, we shine a light on ATTR-CM, a condition that exemplifies both the progress being made in rare disease science and the persistent gaps in patient experience.