ATTR-CM Symptoms Often Mistaken For Ageing, Delaying Diagnosis For Years - Clinician

KUALA LUMPUR, Oct 8 (Bernama) -- Symptoms of transthyretin amyloid cardiomyopathy (ATTR-CM), a rare and under-recognised heart condition, can be mistaken for normal ageing or common cardiovascular problems, causing diagnosis delays for years.

Hospital Serdang Consultant Cardiologist Dr Saravanan Vengadesa Pillai said greater awareness among healthcare professionals and the public is important to ensure persistent or worsening health changes are not overlooked.

“ATTR-CM can be challenging to recognise because symptoms like breathlessness, fatigue and swelling also appear in common cardiovascular conditions and may be attributed to ageing.

“What we want people to understand is that persistent or worsening health changes deserve attention. Greater awareness among healthcare professionals and the public can help ensure patients who may require further assessment are directed to appropriate care, he said in a statement.

He was speaking at the Dengarlah Degupan Kami (Hear Our Heartbeat) forum held on Sept 30, organised by Hospital Serdang's Cardiology Department in collaboration with the Malaysian Rare Disorders Society (MRDS) and supported by Pfizer Malaysia.

The forum brought together cardiologists, patients, caregivers, and patient advocates to raise awareness of ATTR-CM and its often complex diagnostic journey.

Symptoms can include persistent breathlessness, swelling in the legs and ankles, and fatigue, which overlap with other cardiovascular conditions.

ATTR-CM patient Teoh Eng Hoe said he initially noticed unexplained changes in his health before eventually receiving a diagnosis.

“For about three months I knew something was not right. I got tired very easily when I walked, and at night I could feel that something was wrong with my heart. It was my children who urged me to get checked, and that was when doctors found that my heart had become enlarged,” he said.

Teoh advised those with similar symptoms to seek medical attention early, adding that he continued living his life while managing his condition by watching his diet and avoiding strenuous exercise.

Meanwhile, MRDS Vice President Allida Muhammad Said said the challenges of rare diseases extend beyond patients to their families and caregivers, especially when they are trying to find out what is wrong.

“For many people living with a rare disease, one of the hardest parts of the journey is simply finding out what is wrong. Families may know that something has changed, yet not know where to turn or what questions to ask. This is why awareness and support matter,” she said.

In July, a multidisciplinary panel of Malaysian clinicians across cardiology, haematology, nuclear medicine and other related specialities published the country’s first expert consensus and clinical pathway recommendations for ATTR-CM in the International Journal of Heart Failure.

The recommendations provide locally relevant guidance to help Malaysian clinicians recognise, assess and manage suspected ATTR-CM. They also highlight the potential value of establishing a local patient registry for cardiac amyloidosis to strengthen understanding, collaboration and research.

Pfizer MISP Cluster Speciality Care & Internal Medicine Marketing Lead Tan Hui Yee said greater awareness of rare diseases helps patients and the public better understand conditions such as ATTR-CM.

“Pfizer has a long-standing commitment to disease education and to the rare-disease community in Malaysia. Conversations such as Hear Our Heartbeat matter because greater awareness begins with better understanding,” she said.

Tan said bringing together healthcare professionals, patients, caregivers and advocates can help improve understanding of conditions like ATTR-CM and encourage more informed health conversations.

ATTR-CM has been on the Malaysian Rare Disease List since 2023. The awareness effort will continue ahead of World Amyloidosis Day on Oct 26, with Pfizer Malaysia supporting social media health-awareness content to improve public understanding of amyloidosis and ATTR-CM, including signs and symptoms that may warrant discussion with a healthcare professional.

-- BERNAMA