Description

Amyloidosis (am-uh-loi-DOSE) is a rare disease that occurs when a protein called amyloid accumulates in body organs. This accumulation of amyloid can cause the organs do not function correctly.

The organs that may be affected are the heart, the kidneys, the liver, the spleen, the nervous system and the digestive tract.

Some types of amyloidosis occur with other diseases. These types can be improved with the treatment of other diseases. Some types of amyloidosis can lead to life-threatening organ failure.

Treatments may include chemotherapy with strong medicines used to treat cancer. Other types of medications can reduce the production of amyloid, and the control of the symptoms. Some people may benefit organ or stem cell transplantation.

Symptoms

You may not experience the symptoms of amyloidosis until later in the course of the disease. The symptoms may vary, depending on the organs affected.

The signs and symptoms of amyloidosis may include:

  • Severe fatigue and weakness
  • Shortness of breath
  • Numbness, tingling, or pain in the hands or feet
  • Swelling of the ankles and the legs
  • Diarrhea, possibly with blood, or constipation
  • An enlarged tongue, which at times looks wrinkly around its edge
  • Changes in the skin, such as thickening or easy bruising, and patches of purple color around the eyes

When to see a doctor

Consult your health care provider if you regularly experience any of the signs or symptoms associated with amyloidosis.

Causes

There are many different types of amyloidosis. Some types are inherited. Others are caused by external factors, such as inflammatory diseases or long-term dialysis. Many types of affect multiple organs. Others affect only a part of the body.

Types of amyloidosis include:

  • AL amyloidosis (amyloidosis immunoglobulin light chains). This is the most common type of amyloidosis in the developed countries. AL amyloidosis is also called primary amyloidosis. It usually affects the heart, kidneys, liver, and nerves.
  • AA amyloidosis. This type is also known as secondary amyloidosis. It is usually caused by an inflammatory disease, such as rheumatoid arthritis. It is most commonly affects the kidneys, the liver and the spleen.
  • Hereditary amyloidosis (familial amyloidosis). This hereditary disorder that often affects the nerves, the heart and the kidneys. Most commonly occurs when a protein produced by the liver, is abnormal. This protein called transthyretin (TTR).
  • Wild-type amyloidosis. This variety has also been called systemic amyloidosis senile. Occurs when the TTR protein produced by the liver is normal, but produces amyloid for unknown reasons. Wild-type amyloidosis tends to affect men more than 70 years of age and is often concentrated in the heart. It can also cause carpal tunnel syndrome.
  • Localized amyloidosis. This type of amyloidosis often has a better prognosis than the varieties that affect multiple organ systems. Typical sites for localized amyloidosis include the bladder, the skin, the throat or the lungs. The correct diagnosis is important for treatments that affect the entire body can be avoided.

Risk factors

The factors that increase the risk of amyloidosis, which include:

  • Age. The majority of people with a diagnosis of amyloidosis between the ages of 60 and 70.
  • Sex. Amyloidosis occurs more commonly in men.
  • Other diseases. Having a chronic infectious or inflammatory disease increases the risk of AA amyloidosis.
  • The history of the family. Some types of amyloidosis are hereditary.
  • The kidney dialysis. Dialysis can not always remove large proteins in the blood. If you are on dialysis, abnormal proteins may accumulate in the blood and eventually are deposited in the tissue. This condition is less common with the most modern techniques of dialysis.
  • Of the race. People of African descent appear to be at higher risk of carrying a genetic mutation associated with a type of amyloidosis that can damage the heart.

Complications

Amyloidosis can cause serious damage to the:

  • Heart. Amyloid reduces the heart's ability to fill with blood between heartbeats. Less blood is pumped with each heartbeat. This can cause difficulty breathing. If amyloidosis affects the electrical system of the heart, can cause heart rhythm problems. Amyloid-related problems of the heart can be fatal.
  • Kidneys. Amyloid protein can damage the kidneys, the filtration system. This affects your ability to eliminate the waste products of the body. Eventually, it can cause kidney failure.
  • Of the nervous system. The nerve damage can cause pain, numbness, or tingling sensation in the fingers of the hands and feet. If amyloid affects the nerves that control the function of the intestines, which can cause periods of alternation of constipation and diarrhea. Damage to the nerves that control the blood pressure can make people feel faint if you stand up too fast.

Diagnosis

Amyloidosis is often overlooked because the signs and symptoms can mimic those of more common diseases.

Early diagnosis can help to prevent further damage to the organs. An accurate diagnosis is important because treatment varies greatly, depending upon your specific condition.

Laboratory tests

Blood and urine may both be tested for the abnormal protein that can indicate amyloidosis. People with certain symptoms may also need thyroid, and kidney function tests.

Biopsy

A tissue sample can be checked for signs of amyloidosis. The biopsy can be taken from the fat under the skin of the abdomen or of the bone marrow. Some people may need a biopsy of an affected organ, such as the liver or the kidney. The tissue can be tested to see what type of amyloid is involved.

Imaging tests

Images of the organs affected by amyloidosis may include:

  • The echocardiogram. This technology uses sound waves to create moving images that can show how well your heart is working.. you can Also display the heart damage that may be specific to certain types of amyloidosis.
  • Magnetic resonance imaging (MRI). MRI uses radio waves and a strong magnetic field to create detailed images of organs and tissues. These can be used to verify the structure and function of the heart.
  • The Nuclear imaging. In this test, small amounts of radioactive material (tracer) is injected into a vein. This may reveal principles of heart damage caused by certain types of amyloidosis. It can also help to distinguish between the different types of amyloidosis, which can guide treatment decisions.

Treatment

There is No cure for amyloidosis. But treatment can help manage the signs and symptoms and further limit the production of the amyloid protein. If amyloidosis has been triggered by another condition, such as rheumatoid arthritis or tuberculosis, the treatment of the underlying condition may be helpful.

Drugs

  • Chemotherapy. Some cancer drugs are used in AL amyloidosis stop the growth of abnormal cells that produce the protein that forms amyloid.
  • Drugs for the heart. If your heart is affected, you may need to take blood thinners to reduce the risk of formation of blood clots. You may also need medicines to control the rhythm of your heart. Medications that increase urination can reduce the strain on the heart and kidneys.
  • Targeted therapies. For certain types of amyloidosis, drugs such as patisiran (Onpattro) and inotersen (Tegsedi) can interfere with the commands sent by defective genes that create amyloid. Other drugs, such as tafamidis (Vyndamax, Vyndaqel) and diflunisal, you can stabilize the bits of the protein in the bloodstream and prevent it transforms in amyloid deposits.

Surgical and other procedures

  • Autologous blood stem cell transplant. This procedure involves the collection of your own stem cells from the blood through a vein, and store them for a short period of time, while you have high-dose chemotherapy. The stem cells are then returned to your body through a vein. This treatment is most appropriate for people whose disease is not advanced, and whose heart is not greatly affected.
  • The dialysis. If your kidneys have been damaged by amyloidosis, you may need to start dialysis. This procedure uses a machine to filter the wastes, salts and fluid from your blood on a regular schedule.
  • Transplantation of organs. If the amyloid deposits have been severely damaged his heart or kidneys, you may need surgery to replace the organs. Some types of amyloid is formed in the liver, so that a liver transplant could stop the production.

Preparing for your appointment

You may be referred to a doctor who specializes in blood disorders (hematologist).

What you can do

  • Write down your symptoms, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Make a list of all your medications, vitamins and supplements.
  • Write down your key medical information, including other conditions.
  • Write down key personal information, including any recent changes or stressors in your life.
  • Write questions to ask their doctor.
  • Ask a relative or friend to accompany you, to help you remember what the doctor says.

Questions to ask your doctor

  • What is the most likely cause of my symptoms?
  • What type of amyloidosis have?
  • What organs are affected?
  • What stage is the disease?
  • What kinds of tests do I need?
  • What type of treatments do I need?
  • Am I at risk of long-term complications?
  • What types of side effects can I expect from treatment?
  • Do I have to follow any diet or activity restrictions?
  • I have another health condition. How can I best manage them together?

In addition to the questions that you've prepared to ask your doctor, do not hesitate to ask questions during your appointment.

What to expect from your doctor

Your doctor may ask you a series of questions. Be prepared to respond to them can provide time to review the points that you want to spend more time. You may ask:

  • When did you first begin experiencing symptoms? How severe they are, and they are continuous or occasional?
  • Nothing seems to make your symptoms better or worse?
  • How is your appetite? You've lost weight recently without trying?
  • Have you experienced any swelling of the legs?
  • Have you experienced shortness of breath?
  • Are able to work and perform normal daily tasks? Are you often tired?
  • Have you ever noticed that you bruise easily?
  • Anyone in your family ever been diagnosed with amyloidosis?
Symptoms and treatment of Amyloidosis