An evolving story: improving care for hereditary ATTR amyloidosis

Hereditary ATTR amyloidosis, characterised by the abnormal build-up of amyloid protein in the body’s organs, is caused by an inherited mutation in the transthyretin (TTR) gene.

Hereditary transthyretin mediated amyloidosis (or hATTR amyloidosis) affects the nerves and heart, as well as the gastrointestinal and autonomic nervous systems. Over time, patients can lose motor function, become prone to falls and eventually develop heart failure.

Mutations of hATTR amyloidosis

“It is a tough, unpleasant disease as it progresses,” says Professor Aisling Ryan, Consultant Neurologist at Cork University Hospital. “Until recently, we didn’t have a treatment for it.”

There are over 120 different mutations in the TTR gene. In Ireland, the most common mutation is found in Donegal, while another recently-discovered mutation has been located in the Kerry and Cork area. Patients with this mutation often report carpal tunnel syndrome in both hands and may have a personal or family history of heart problems.

Managing the symptoms

Cork University Hospital has a specialist diagnostic and treatment centre which helps patients manage symptoms.

“The availability of treatments has improved care in recent years” Professor Ryan adds. “There is solid evidence that these medicines have the potential to slow the progression or, for some patients, to improve lost function. If a health professional has even half a suspicion of amyloid, they should refer the patient to an expert.

“It’s an evolving story — and it’s been a privilege to be part of that journey.”