St Vincent’s providing new hope for patients with amyloidosis

15 Nov 2022

St Vincent’s Cardiologist and Victor Chang Researcher, Dr Nikki Bart is leading a new multidisciplinary clinic to treat amyloidosis, a form of heart disease that can result in total heart failure.

But with new therapies, greater awareness and screening of the disease could be the start of a new era in the management of this disease.

Dr Bart, who has set up a new multidisciplinary amyloidosis clinic, says: “Five years ago this disease was fatal with a life expectancy of just four years. But we now have disease-modifying therapies which can prevent irreversible damage.

But a knowledge gap surrounding amyloidosis in both the medical and general community is leaving many Australian’s undiagnosed, or without a clear treatment pathway.

“The trouble is that many in the community are unaware of this disease and that we can now treat it. We need a paradigm shift to increase awareness, increase diagnosis, and streamline access to treatment across our medical community and the wider Australian population.

“This means educating the general population, medical students, GPs, and specialists.”

Amyloidosis occurs when abnormal protein deposits — amyloid fibrils — build up in tissue and organs including the heart, kidney, and nervous system. Once considered a rare disease, amyloidosis screening is proving to be more common than experts realised.

“We estimate there are now more than 20,000 undiagnosed and untreated cases in Australia and around 13-17% of patients with ‘at risk’ conditions; including heart failure with preserved ejection fraction and degenerative aortic stenosis, have underlying amyloidosis.

“More than 50% of patients can see up to five different doctors before a diagnosis is made. There is a critical unmet need for earlier diagnosis before irreversible organ damage occurs, especially cardiac damage.”

Until recently amyloidosis was considered a life limiting condition due to prolonged diagnosis and a lack of treatment options, but in recent years, improved screening, less invasive diagnostics and new treatment options have become available.

Treatments are now available at the clinic which not only reduce symptoms, but ultimately improve quality of life as well as mortality. Patients are also being enrolled in several different trials accessing therapies ranging from medications to injections to gene-modifying therapies.

In addition the clinic facilitates a more effective treatment plan inclusive of all their needs, such as specialist cardiology, neurology, haematology, and genetic counselling all in the one clinic.

The team of Dr Antonia Carroll, Dr Georgia McCaughan, Dr Gorrie and Dr Bart have seen 30 new patients in the last twelve months which has resulted in 20 new diagnoses of amyloidosis and two early cardiac transplant referrals.

For more information on referrals please email amyloidreferrals@svha.org.au

nikkibart

Dr Nikki Bart

(Image courtesy of Fairfax)