Philippa Quigley
Business Lead, Ireland, Alnylam
hATTR amyloidosis is a rare, hereditary condition caused by amyloid deposits from abnormal versions of a blood protein called transthyretin (TTR).
Imagine a rare disease affecting approximately 50,000 people globally, with at least 130 mutations involving different presentations and prognoses, the third most common of which is linked to a 15-mile Irish coastline in northwest Donegal. No need to imagine — it’s real!
From that remote part of County Donegal, one mutation, T80A, has spread across the world — from Australia to the USA. What a unique connection Ireland has to this rare disease.
Benefits of early hATTR amyloidosis diagnosis
In recent years, a number of therapeutic options have been developed for hATTR amyloidosis management and treatment.
Early diagnosis has a significant effect on prognosis. Available treatments have been shown to slow down and, in some cases, halt disease progression. Recognising the ‘red flags’ for the disease in its early stage can play a major role in improving patient outcomes.
Research into this rare
disease is ongoing.
How to encourage early diagnosis
We must encourage those known to be carrying the mutation — or those with confirmed diagnosis — to be open with family members, share awareness of signs and symptoms and encourage them to seek medical advice at the first sign of any symptom.
Family cascade screening widens the testing pool for T80A, facilitating earlier diagnosis of this potentially devastating disease. The availability of — and access to — genetic testing will help healthcare professionals diagnose the condition earlier.
Genetic testing for hereditary ATTR amyloidosis can now be accessed through GP surgeries across Ireland. Irish specialists treating this disease have stipulated that the minimum age for testing of T80A is 45 years — or 10 years back from the age a relative with the disease was first diagnosed.
Expanding treatment for hATTR amyloidosis
Recent years have seen a significant improvement for patients. What was once a rapidly progressive, debilitating and life-threatening disease now has treatment options, which may slow down progression and improve the quality of life of those affected by hATTR.
Research into this rare disease is ongoing. Ireland has a unique connection to hATTR amyloidosis. This highlights the importance of prioritising such diseases and, on Rare Disease Day 2024, we ask that Irish healthcare professionals remember to think rare and think genetic, as we strive to empower the public to recognise symptoms of this rare disease, particularly in counties with endemic populations.