Amyloidosis Ireland
What is amyloidosis?
Amyloidosis is a group of rare, serious conditions where an abnormal protein called amyloid builds up in organs, nerves and tissues.
At a glance
- Amyloid build-up can stop organs and nerves working properly.
- ATTR amyloidosis involves a protein called transthyretin, or TTR.
- ATTR can be hereditary or wild-type. Hereditary ATTR runs in families; wild-type usually appears later in life.
- In Ireland, Amyloidosis Ireland focuses mainly on ATTR, including the Thr60Ala variant often known as Donegal Amy.
The simple explanation
Proteins normally fold into a useful shape and then leave the body safely when they are no longer needed. In amyloidosis, some proteins misfold, clump together and form amyloid deposits.
Those deposits can collect in different parts of the body. The symptoms depend on where the deposits are — for example the heart, the peripheral nerves, the autonomic nervous system, the digestive system, the kidneys or the eyes.
What does ATTR mean?
Amyloidosis
The “A” stands for amyloidosis — the build-up of amyloid deposits.
Transthyretin
“TTR” stands for transthyretin, pronounced trans-thigh-re-tin. It is the protein involved in ATTR amyloidosis.
Hereditary and wild-type ATTR
ATTR amyloidosis has two main forms: hereditary ATTR and wild-type ATTR. Everyone’s experience is different, even within the same family.
Hereditary ATTR is caused by a change in the TTR gene. Wild-type ATTR is not inherited and is more often diagnosed in older adults.
Donegal Amy
Thr60Ala is one type of hereditary ATTR amyloidosis with a specific origin in Donegal, in the north west of Ireland. It is often called Donegal Amy.
Although it is classed as a rare genetic disease, experts have estimated that around 1% of the population of north west Donegal may carry the faulty gene. Not everyone who carries the gene will develop the condition.
Why clear information matters
Most people have never heard of amyloidosis until they or someone in their family is diagnosed. Many health professionals also see it rarely. Clear, readable information can help patients and families ask better questions and seek the right support.