hATTR amyloidosis is extremely rare in most parts of the world. However, although anyone can be at risk, it is more common for certain ethnicities or people from certain parts of the world to be diagnosed.
It can therefore be a good idea to familiarise yourself with some of these trends as knowing certain risk factors, alongside your family history, may help with making more informed decisions.
In some countries, cases of hATTR amyloidosis tend to be localised to certain regions, particularly where people may be linked to ancestors originating from Portugal, Sweden and Japan.
It is also believed that it may be more common but under-diagnosed in several other regions, including Spain, France, Brazil, Argentina, Cyprus and Bulgaria.
It is important to remember that hATTR amyloidosis is still very rare and that being from these regions, or of a certain ethnic background, only increases the risk of you carrying a gene alteration linked to the disease.
Link to ethnicity and geography
hATTR amyloidosis is extremely rare in most parts of the world. However, although anyone can be at risk, it is more common for certain ethnicities or people from certain parts of the world to be diagnosed.
It can therefore be a good idea to familiarise yourself with some of these trends as knowing certain risk factors, alongside your family history, may help with making more informed decisions.
In some countries, cases of hATTR amyloidosis tend to be localised to certain regions, particularly where people may be linked to ancestors originating from Portugal, Sweden and Japan.
It is also believed that it may be more common but under-diagnosed in several other regions, including Spain, France, Brazil, Argentina, Cyprus and Bulgaria.
It is important to remember that hATTR amyloidosis is still very rare and that being from these regions, or of a certain ethnic background, only increases the risk of you carrying a gene alteration linked to the disease.
Link between genetic variants and ethnicity
There are over 150+ variants of the TTR gene – the blueprint for making the TTR protein – that are associated with the formation of amyloid.
The most common worldwide is commonly known as the V30M variant – or the TTR Val30Met mutation.
Link between genetic variants and ethnicity
There are over 150+ variants of the TTR gene – the blueprint for making the TTR protein – that are associated with the formation of amyloid.
The most common worldwide is commonly known as the V30M variant – or the TTR Val30Met mutation.
T60A – also called the TTR Thr60Ala mutation:
- This is the most common gene variant in the UK and is often seen in people with Irish ancestry.
- People with this mutation tend to experience symptoms between the ages of 45 – 78.
- Commonly there are issues with heart function and around two-thirds of patients also experience neuropathy (disease of the nerves that can cause numbness and pain).
V122I – also called the VAL122Ile mutation:
- This genetic variant is seen in around 3-4% of African Americans and has been strongly linked to people of Afro-Caribbean and African descent.
- It is thought to be the most widely under-diagnosed gene variant and has only been linked to ATTR amyloidosis in recent years.
- People with the V122I gene alteration tend to be affected in late adulthood, usually over the age of 60.
- Common symptoms can include heart disease and many patients also report carpal tunnel syndrome (pain and numbness, particularly in the hands).
T60A – also called the TTR Thr60Ala mutation:
- This is the most common gene variant in the UK and is often seen in people with Irish ancestry.
- People with this mutation tend to experience symptoms between the ages of 45 – 78.
- Commonly there are issues with heart function and around two-thirds of patients also experience neuropathy (disease of the nerves that can cause numbness and pain).
V122I – also called the VAL122Ile mutation:
- This genetic variant is seen in around 3-4% of African Americans and has been strongly linked to people of Afro-Caribbean and African descent.
- It is thought to be the most widely under-diagnosed gene variant and has only been linked to ATTR amyloidosis in recent years.
- People with the V122I gene alteration tend to be affected in late adulthood, usually over the age of 60.
- Common symptoms can include heart disease and many patients also report carpal tunnel syndrome (pain and numbness, particularly in the hands).
How common is it for someone with one of these genetic variants to develop hATTR amyloidosis?
There is a lot of variation in how many people carrying a gene alteration linked to hATTR amyloidosis go onto develop the disease.
It is thought that around 1 in 500 people in Northern Portugal carry a V30M gene variant and that up to 80% of these people go on to develop symptoms.
However, in Northern Sweden around 1 in 25 people carry the same mutation but only 11% go on to develop the disease.
It is not wholly clear why this is, and research continues to investigate this topic.
How common is it for someone with one of these genetic variants to develop hATTR amyloidosis?
There is a lot of variation in how many people carrying a gene alteration linked to hATTR amyloidosis go onto develop the disease.
It is thought that around 1 in 500 people in Northern Portugal carry a V30M gene variant and that up to 80% of these people go on to develop symptoms.
However, in Northern Sweden around 1 in 25 people carry the same mutation but only 11% go on to develop the disease.
It is not wholly clear why this is, and research continues to investigate this topic.