Care for the Rare: ATTR-CM Unmasked
PULSE Issue 43 | July 2024
Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a rare heart condition caused by misfolding of the native transthyretin protein1 into insoluble amyloid fibrils2. These abnormal amyloid fibrils accumulate in various organs, including the heart, leading to organ dysfunction. ATTR-CM can manifest as either an inherited condition, or as an effect of ageing.
The symptoms of ATTR-CM cloak themselves in ambiguity, often eluding detection until their grip tightens. Patients often feel tired more easily, get dizzy from posture changes and notice their legs swelling up. At times, they could have also been silently battling numbness in their hands and feet, or have feelings of weakness in their legs for a period of time.
Traditionally, diagnosing ATTR-CM requires individuals to undergo an invasive heart muscle biopsy3. However, with advancement in technology, ATTR-CM can now be diagnosed through blood tests and a non-invasive nuclear scan4. Plus, new medicines have also been introduced in the past few years, bringing hope to patients with this condition that was once deemed untreatable.
With the growing accessibility of diagnosis and emergence of new treatments options, there has been a resurgence of interest in this previously under-diagnosed condition. The National University Heart Centre, Singapore (NUHCS), organised the “Getting to know Cardiac Amyloidosis” event, on 7 October 2023, with the aim to bring together like-minded ATTR-CM patients and caregivers journeying with this rare heart condition, giving them a platform to better understand the condition and how to self-manage symptoms.
This event also served as an opportunity to introduce the ATTR-CM patients and families to the NUHCS Caring Hearts Support Group (CHSG) – a patient support and advocacy group, by patients for patients, that offers support to fellow heart patients.
Commencing the event, Asst Prof Lin Weiqin, Clinical Director of the Heart Failure and Cardiomyopathy Programme and Senior Consultant, Department of Cardiology, NUHCS, introduced the audience to ATTR-CM and the genetic basis of this condition. Following that, Ms Aisha Aziz, Case Manager, Dept. of Cardiology, NUHCS, imparted invaluable self-management methods for patients dealing with heart failure and volume overload
5 – an issue commonly faced by ATTR-CM patients. The attendees also had the valuable opportunity to hear a recount of an ATTR-CM patient (late Mr Ong), on his personal journey battling this condition.
A virtual embrace spanned continents where Ms Jaime Christmas, Chief Executive of the New Zealand Amyloidosis Patients’ Association, lent her voice to the cause, as a caregiver herself to her late husband, who was also an ATTR-CM patient. She shared on the importance of patient advocacy in advancing treatment of rare conditions such as cardiac amyloidosis. As the event drew to a close, Ms Magdalene Chia, Programme Lead of the CHSG, beckoned the audience to partake in a vibrant tapestry of support and camaraderie. Introducing the breadth of activities and support that CHSG provides, Ms Chia welcomed everyone to join in, with the aim to foster a nurturing community where individuals can find solace and assistance.
It was heartwarming to see that attendees acquired greater knowledge on ATTR-CM, with hope that this event also left them feeling empowered in their journey with this condition, and that support is always accessible for them when needed.
1. Transthyretin protein – A tetrametric protein mainly produced in the liver and choroid plexus of the brain, acting as a crucial transportation of thyroxine (T4) and retinol (Vitamin A) in the blood and cerebrospinal fluid.
2. Amyloid fibrils – Tiny structures formed from misfolded proteins that clump together abnormally and accumulate in tissues.
3. Invasive heart muscle biopsy – A medical procedure where a small sample of heart tissue is taken for examination through a catheter, to diagnose or evaluate heart conditions.
4. Non-invasive nuclear scan – Imaging procedure that involves the use of radioactive tracers to visualise specific tissues or organs within the body without surgery or biopsy.
5. Volume overload – The state in which one of the heart chambers has too large a volume of blood to pump out, forming excess retention of fluid in the heart that can worsen heart failure symptoms.
