AL Amyloidosis
About AL Amyloidosis (AL AMY)
AL amyloidosis is one of the most common types of amyloidosis – a rare type of blood disorder.[1] When abnormal white plasma cells in your bone marrow produce too many misfolded proteins (light chains) that form deposits (amyloid deposits). These deposits cause a build-up of fibrils which create blockages that keep essential organs – such as the heart, kidneys, liver, spleen, nerves or digestive system – from working properly. The condition can seriously impact quality of life and may at times lead to organ failure.[2]
It is estimated that around 5000 new people are diagnosed with AL amyloidosis each year in the European Union.[3] Still, diagnosis is often delayed since the symptoms may be non-specific, often mimicking other conditions, and it is a relatively rare condition.[4][3][5]
A late diagnosis is concerning given the severity of the disease, which can be life-threatening if the symptoms and causes [hyperlink to symptoms and causes] are not appropriately managed. [1]
Although AL amyloidosis is not cancerous, the condition may occasionally be associated with a rare type of blood cancer that also starts in plasma cells called Multiple Myeloma. And while treatment approaches can be similar, there is a key distinction between the two diseases.[2] In Multiple Myeloma there is an abnormal growth of cells in the bone marrow, while in AL Amyloidosis the problem stems from a build-up of proteins (light chains) produced by abnormal cells.[6]
Types of Amyloidosis
Hereditary Amyloidosis
Is a specific gene mutation which causes the body to produce amyloid proteins that form into an abnormal shape.[9] If you have this type, you carry the gene from birth, and you may not experience any symptoms until adulthood, or even at all. However, you can pass it on to your children whether you have symptoms or not. This type affects a wide range of organs, but is common in the kidneys, liver and spleen, as well as the heart and nerves.
Wild-type Amyloidosis
Is unusual because, unlike the others, which have clear causes, there is no genetic or underlying health reason for it.[10] Despite the body creating seemingly normal cells, build-up still occurs. Found primarily in men in their 70s, and most commonly affecting the heart; medical experts associate this type with old age.[11]
Causes
AL amyloidosis is caused by an overproduction of light chain proteins which misfold and bind together to form amyloid fibrils that are then deposited into organs.[1] However, scientists do not yet fully understand why someone produces too many light chains. It is likely to stem from a combination of both genetic and environmental factors.[12]
That said, certain risk factors may increase the likelihood of someone developing AL amyloidosis:
- Age: the median age at diagnosis is 63 years old [13]
Being male: approximately 55% of people living with AL amyloidosis are male [13]
Individuals with monoclonal gammopathy of undetermined significance (MGUS), a condition where low levels of white plasma cells produce the light chain that may form amyloid, are nine times more likely to develop AL amyloidosis: [13]
Having Multiple Myeloma—people with Multiple Myeloma may develop AL amyloidosis [14]
References
