A rare cause of heart failure, cardiac amyloidosis, is an overproduction of a protein that leads to a stiffening of the heart.
“I only diagnose one or two people a year with it. It can be part of chronic blood conditions and sometimes independent of blood conditions,” he says.
Amyloidosis is an overproduction of the amyloid protein, which is then deposited throughout the body in various sites and can lead to different symptoms.
“Patients generally present with what we call heart failure, an accumulation of fluid because the heart is not working normally. Patients can experience shortness of breath and/or ankle swelling.”
“In terms of cardiac amyloidosis, what happens is the protein gets deposited in the heart and that can lead to a stiffness. The heart doesn’t fill up as easily because it is stiff from the protein deposition.”
“It can cause the heart to not squeeze as well. You can also get arrhythmias because the protein interferes with the normal electrical circuitry of the heart.”
Older people, patients with chronic blood conditions, such as myeloma, and those with a family history of amyloidosis and are at risk of developing cardiac amyloidosis.
How is it diagnosed?
The first line of diagnosis is usually an echocardiogram, a heart ultrasound which can measure heart muscle thickness and stiffness.
“The heart ultrasound can identify thickened muscle. The heart muscle itself is thickened because of the accumulation of protein,” Dr Ellims says.
Other tests include cardiac MRI and a tissue biopsy to confirm the type of amyloid protein.
Treatment of cardiac amyloidosis
There are currently no specific treatments for removing the amyloid protein from the heart, although ongoing clinical trials provide hope for a future solution. Dr Ellims says doctors treat the underlying cause in addition to prescribing heart failure medications, such as diuretics, which keep fluid off the body.
“Treatment is targeting the underlying cause. If it’s a blood condition, you treat the blood condition.”
26 September 2019