One day, you begin to cough and experience shortness of breath without any apparent explanation. Soon, your feet and ankles begin to swell. Although careful testing will need to be done before a diagnosis can be made, these may be early symptoms of amyloid light-chain amyloidosis.
AL amyloidosis (also called primary amyloidosis) is the most common form of amyloidosis, and there are about 4,500 new cases diagnosed every year in the U.S. In AL amyloidosis, plasma cells produce immune proteins known as light chains that are abnormal and become misfolded in tissues. Symptoms of AL amyloidosis are caused by light-chain protein accumulation in tissues and organs.
Read more about the causes, risk factors, and prevalence of AL amyloidosis.
The symptoms associated with AL amyloidosis result from amyloid protein accumulation and deposits, known as amyloid fibrils. Symptoms vary from person to person. Symptoms can also range from mild to severe.
The more general symptoms of AL amyloidosis include:
AL amyloidosis is a serious condition because light-chain proteins misfold and build up within essential body organs. These organs include the kidneys, heart, gastrointestinal system, and nervous system. The kidneys and heart are the most commonly affected organs, while neuropathic symptoms (symptoms in the nervous system) are less common.
As AL amyloidosis progresses, symptoms become much more dangerous as critical organs are affected. Organ failure can be fatal. Thus, it is important to recognize all of the signs and symptoms of AL amyloidosis before it progresses too far.
One of the most common and early symptoms of AL amyloidosis is swelling in the body, most notably the feet and ankles. This swelling is typically a sign of kidney damage.
When light-chain protein deposits primarily form in the kidneys, the condition is called renal AL amyloidosis. (Renal means related to the kidneys.) Chronic kidney disease is common in people with AL amyloidosis.
Symptoms of renal AL amyloidosis can include:
When amyloid deposits get to the point where the kidneys lose their ability to purify blood, this can lead to renal failure. In these cases, end-stage kidney disease occurs, and kidney dialysis is often necessary.
Light-chain amyloid deposits also occur in the heart. This is referred to as AL cardiac amyloidosis or stiff heart syndrome.
The symptoms associated with amyloid protein deposits within the heart include:
When the heart tissues thicken, heart failure can occur. This is why early diagnosis is so important.
Sometimes, protein accumulation can occur in the gastrointestinal, or digestive, system. The organs of this system include the stomach, intestines, mouth, esophagus, and anus. Amyloid deposits in the gastrointestinal system can cause the following symptoms:
Less commonly, AL amyloidosis can affect the nervous system. This includes the central nervous system (the brain and spinal cord) and the peripheral nervous system (all of the nerves in the rest of the body).
Symptoms of AL amyloidosis within the nervous system include:
Since light-chain protein can build up anywhere in the body, a very wide array of symptoms are possible. Other symptoms seen in cases of AL amyloidosis include:
If left untreated, symptoms of AL amyloidosis may progress to organ failure and death. This is why treatment is so important. But first, a diagnosis is necessary. Unfortunately, the diagnostic process can be complex and lengthy. Timely diagnosis through blood and urine tests, imaging techniques such as magnetic resonance imaging (MRI) or echocardiograms, bone marrow biopsies, and biopsies of tissues and organs can decrease the time to treatment.
Treatment as early as possible is essential to improve the quality of life of those with AL amyloidosis.
Read more about treatment options for AL amyloidosis.
MyAmyloidosisTeam is the social network for people with amyloidosis and their loved ones. On MyAmyloidosisTeam, members come together to ask questions, give advice, and share their stories with others who understand life with amyloidosis.
Are you living with AL amyloidosis? Share your experience in the comments below, or start a conversation by posting on your Activities page.