Amyloidosis occurs when abnormal proteins, called amyloids, build up in the blood. Amyloids can attach themselves to nerves, tissues, and organs, as well as other places in the body. In some cases, amyloids accumulate in the heart — a condition known as cardiac amyloidosis. The buildup of amyloids in the heart damages the organ by affecting the heart’s ability to pump blood, leading to a variety of systemic (widespread) and localized symptoms.
This article explores how amyloidosis can affect the heart. Read on to learn about the symptoms of cardiac amyloidosis, as well as the other ways in which amyloidosis can affect the body. If you experience any of these symptoms, consult your doctor right away. A health care provider will be able to determine whether your symptoms are caused by amyloidosis or another condition, such as heart failure.
Two types of amyloidosis are the most likely to cause heart damage: amyloid light-chain (AL) amyloidosis (AL amyloidosis) and transthyretin amyloidosis (ATTR). AL amyloidosis (also known as primary amyloidosis) is the most common type of the disease. In this condition, the immune system produces irregular forms of antibodies (proteins that help defend against invaders), which are called “light chains.”
The bone marrow (the spongy tissue found in the center of the bones) contains cells known as plasma cells. These cells produce proteins called antibodies, which help defend the body against foreign or harmful substances.
If these plasma cells become cancerous, extra pieces of antibodies (light chains) may be produced. These light chains can then circulate through the bloodstream and deposit themselves in different organs, causing damage to the organs. The organs most commonly affected by AL amyloidosis include:
There are two types of ATTR: hereditary amyloidosis (also called familial amyloidosis) and wild-type amyloidosis (also known as senile amyloidosis).
Hereditary amyloidosis (familial amyloidosis) is an inherited disorder that often affects the heart, kidneys, and nerves. This form of ATTR is known as a protein misfolding disorder. In healthy people, the liver produces the TTR protein, which helps to carry vitamin A and thyroid hormones through the blood. Familial ATTR most commonly occurs when the TTR protein misfolds and becomes abnormal. Hereditary amyloidosis is a very serious disease, but its rate of progression is generally slower than that of AL amyloidosis.
Wild-type amyloidosis, also known as senile amyloidosis, occurs when the TTR protein is normal but produces amyloid for an undetermined reason. Previously known as senile systemic amyloidosis, wild-type ATTR amyloidosis commonly targets the heart and usually affects men over the age of 65.
A person may not have any symptoms of cardiac amyloidosis until the condition has progressed to an advanced stage. Additionally, not all people will experience every symptom of the disease. The symptoms a person experiences depend on which organs have been affected.
Because cardiac amyloidosis affects the heart and impedes its function, some of its symptoms may mimic those of heart failure. It is best to contact your health care provider right away if you have any of these symptoms:
Normally, the heart can fill with blood in between heartbeats. Amyloidosis impedes the heart’s ability to fill with blood. With every beat, less blood is pumped, meaning less oxygen can be carried throughout the body. This can cause a person to become short of breath, even with little or no physical exertion. You may also find it difficult to lie flat on your back due to this shortness of breath.
One MyAmyloidosisTeam member shared their experience with shortness of breath and the frustration it causes: “Breathing issues, nothing much can be done. Just have to learn to live with it.”
Amyloid proteins in the heart’s blood vessels can cause feelings of discomfort, heaviness, or pressure in the chest (angina), especially during physical exertion. Heart palpitations are another potential symptom. These may make the heart feel as if it is pounding, fluttering, or beating quicker than normal.
The deposit of amyloid proteins in the heart causes the organ to become stiff. This, in turn, leads to the buildup of fluid in the lungs. Fluid accumulation in the lungs may result in breathlessness, as well as fluid buildup in the soft tissues. This can cause the ankles, legs, and abdomen to swell.
Before starting their first treatment, one member shared, “I have extremity and joint pain and swelling […] and am becoming quite short of breath because of the rib cage and collarbone pain.”
Amyloidosis is not always limited to the heart. The involvement of other organs and body systems alongside cardiac amyloidosis can cause other symptoms, including:
A person with amyloidosis may develop an enlarged tongue — a condition known as macroglossia. In some cases, the edges of the tongue may also look rippled. The tongue may become tender and swollen, and swallowing may be difficult. Depending on the size of the tongue, the potential for the airway to become blocked may be a concern.
Nerve damage in amyloidosis can lead to peripheral neuropathy — a condition that causes pain, weakness, numbness, or other abnormal sensations in the feet or hands. These sensations are sometimes described as a “pins-and-needles” feeling.
Pain in the wrist, also known as carpal tunnel syndrome, may be a symptom of cardiac amyloidosis. At least one study has shown that cardiac amyloidosis can be detected at an early stage while an individual is undergoing surgery for carpal tunnel syndrome. During this surgery, a biopsy of the tissue overlying the wrist can be taken. This procedure can be used to detect cardiac amyloidosis.
Feeling lightheaded or dizzy when trying to stand up too quickly after a period of sitting is referred to as orthostatic hypotension or postural hypotension. This symptom is most likely to occur if amyloidosis has affected the nerves that control blood pressure. When this is the case, standing up can cause a sudden drop in blood pressure, leading to lightheadedness or dizziness. A person may experience a progressive increase in lightheadedness, dizziness, or unsteadiness over time. In some cases, fainting can occur, which may lead to falls.
Some people with cardiac amyloidosis experience bruising or bleeding. One potential result of this is amyloid purpura — a condition in which the small blood vessels spontaneously burst, commonly around both eyes or eyelids. There may be bruising in other areas of the face, the nails, and the neck. All of these can be early signs of cardiac amyloidosis and should not be ignored.
Amyloidosis may affect different nerves in the body, including those that control bowel function. Damage to the nerves that control the bowels may cause a person to experience diarrhea and constipation (in many cases, alternating between the two).
A person with amyloidosis may experience unintentional weight loss of more than 10 pounds. This is usually due to a loss of muscle. It is important to note that the retention of fluid may mask this weight loss. Your health care provider may request a record of daily weigh-ins to help track changes in your weight.
Amyloidosis can damage the body’s tissues and organs — in some cases, more than one organ at a time. The kidneys and their functions (renal system) are among the body systems that can be affected by amyloid deposits.
In a healthy person, the renal system filters approximately 120 to 150 quarts of blood every day. This causes the production of about one to two quarts of urine, which is made up of wastes and excess fluids. This urine is then stored in the bladder until it is emptied from the body. In a person with amyloidosis, amyloid clumps may begin to damage the kidneys. This affects their ability to break down proteins and filter wastes from the body. The proteins that would normally be filtered out begin to leak into the urine.
The first symptom of renal problems with amyloidosis is often decreased frequency of urination. You may find that you do not urinate as much as you used to (assuming your kidneys and other organs were working properly previously), or your urine may be foamy. These problems could eventually lead to kidney failure and a need for dialysis.
Cardiac amyloidosis is serious, and its treatment requires a multidisciplinary approach. Your health care team may include many doctors and technicians, including cardiologists, gastroenterologists, hematologists, nephrologists, neurologists, and genetic counselors.
Currently, there is no cure for cardiac amyloidosis. However, there are treatments available that can address underlying problems, alleviate symptoms, and improve quality of life. These treatments are aimed at addressing the damage to the heart by slowing the progression of the amyloid deposits. The treatment you receive depends on your subtype of amyloidosis (AL amyloidosis or ATTR amyloidosis).
People with cardiac amyloidosis who go untreated will undergo a progressive increase in the thickness of their cardiac walls.
The thickening of the cardiac walls causes a person to feel shortness of breath and experience swelling of the abdomen and legs. These are usually the first signs of cardiac amyloidosis. The deposit of amyloid proteins in the heart’s blood vessels may also lead to tightness and discomfort in the chest (angina).
Sometimes, amyloid deposition can also cause a person with cardiac amyloidosis to develop carpal tunnel syndrome. The symptoms of carpal tunnel syndrome often appear before cardiac symptoms — sometimes even years before.
It is critical to get to the doctor’s office if you experience early symptoms of cardiac amyloidosis. Early diagnosis focuses on detecting symptomatic individuals as early as possible so they have the best chance for successful treatment.
Bring a list of questions for your doctor. Keep track of any symptoms or changes in your health, and bring that information to your doctor’s office to discuss.
On MyAmyloidosisTeam, you’ll meet other people with amyloidosis. Here, members who understand life with amyloidosis come together to share support, advice, and stories from their daily lives.
What treatments have you tried for your symptoms of cardiac amyloidosis? Share your experiences and thoughts in the comments below or by posting on MyAmyloidosisTeam.