Hereditary ATTR amyloidosis a rare disease with a unique Irish connection

Imagine a rare disease seen in a total of approximately 50,000 people across the world, with at least 120 known mutations. Then, imagine that the third most common mutation of this rare disease is believed to have originated from a 15-mile stretch of coastline right here in Ireland, in the extreme northwest of Donegal.

Mutation of the rare disease hATTR amyloidosis

From the tiny, remote area, this particular mutation, T80A, has spread across the world — as far as Australia in one direction and the USA in the other.

For those who are affected with the condition, the build-up of amyloid deposits in certain organs and systems, can lead to great difficulties in their function and, without treatment, can lead to organ failure and, often, death. The most common areas to be affected are the heart, the nervous system and the intestines.

Benefits of early hATTR amyloidosis diagnosis

In the last three to four years, a number of therapeutic options have been developed for the management and treatment of hATTR amyloidosis. Some treatments are now available in Ireland.

It is widely believed that early diagnosis has a significant effect on prognosis. Available treatments have been shown to slow down and, in some cases, halt the progression of the disease. Recognising the ‘red flags’ for the disease in the early stage can improve outcomes for the patient. These early symptoms can be seen in the disease awareness website linked below.

How to encourage early diagnosis

There is a great drive to encourage those known to be carrying the mutation — or those who have had the diagnosis confirmed — to talk to their family members openly, share the signs and symptoms to look out for and encourage them to reach out for medical advice at the first sign of any symptoms. Family cascade screening widens the pool of people being tested for the genetic mutation and can lead to the earlier diagnosis of this disease.

Expanding treatments for hATTR amyloidosis

The last few years has seen a number of changes for patients with this disease and for their family members and carers. What was for many years described as a “rapidly progressive, debilitating, life-threatening, often fatal disease” now has treatment options which may slow down the progression and improve the patient’s quality of life.

The profound link of hATTR to Ireland serves as an example on Rare Disease Day why local Health Care Professionals need to remember to think rare/think genetic and how members of the public can be empowered by knowing the symptoms of an endemic disease.