Amyloidosis Causes, Symptoms, Diagnosis, Treatment, Prevention, Home Remedies

Amyloidosis Causes, Symptoms, Diagnosis, Treatment, Prevention


What is Amyloidosis?


Amyloidosis is not a form of lymph node cancer, although it may occur in some people who have multiple myeloma.  Multiple myeloma is part of a spectrum of diseases called plasma cell dyscrasia. Plasma cells are responsible for forming antibodies against bacteria and foreign proteins. For reasons that are unclear, these cells lose their ability to respond to controlling signals from immune cells. Plasma cells then divide and form abnormal proteins that damage the bone, bone marrow or other organs of the body.

Amyloidosis can affect different organs in different people, and there are different types of amyloid. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and gastrointestinal tract.

Amyloidosis is rare, and the exact cause is often unknown. Treatments are available to help you manage your symptoms of amyloidosis and limit the production of amyloid protein.

Read more: Causes, Symptoms, Diagnosis, Treatment for Amyotrophic lateral sclerosis (ALS)

Causes and Types of Amyloidosis


Many different proteins can lead to the formation of amyloid deposits, but only a few have been linked to significant health problems. The type of protein and where it collects determines the type of amyloidosis you have. Amyloid deposits may collect throughout your body or in just one area.

There are different types of amyloidosis, including:

Primary (systemic AL) amyloidosis


This occurs without a known cause, but It has been seen in people with a blood cancer called multiple myeloma. This is the most common type of amyloidosis. Systemic means it affects the entire body. The most commonly affected body parts are the kidney, heart, liver, intestines, and certain nerves. AL stands for "amyloid light chains," which is the type of protein responsible for this type of amyloidosis.

Secondary (systemic AA) amyloidosis


This is the result of another chronic inflammatory disease, such as lupus, rheumatoid arthritis, tuberculosis, inflammatory bowel disease (Crohn's disease and ulcerative colitis), and certain cancers. It most commonly affects the spleen, kidneys, liver, adrenal gland, and lymph nodes. AA means the amyloid type A protein causes this type of amyloidosis.

Dialysis-related amyloidosis (DRA)


This is more common in older adults and people who have been on dialysis for more than five years. This form of amyloidosis is caused by deposits of beta-2 microglobulin that build up in the blood. Deposits can occur in many different tissues, but most commonly affects bones, joints, and tendons.


Familial, or hereditary, amyloidosis (AF)


This is a rare form that is passed down through families. It is caused by an abnormal amyloid transthyretin (TTR) protein, which is made in the liver. This protein is responsible for the most common forms of hereditary amyloidosis.

Senile systemic amyloidosis (SSA)


This is caused deposits of normal TTR in the heart and other tissues. It occurs most commonly in older men.

Organ-specific amyloidosis


This is cause deposits of amyloid protein in single organs, including the skin (cutaneous amyloidosis).

While some types of amyloid deposits have been linked to Alzheimer's disease, the brain is rarely involved in systemic (body-wide) amyloidosis.

What are amyloidosis symptoms and signs?


Signs and symptoms of amyloidosis depend on which of your organs are affected. When signs and symptoms are evident, they may include:

  • Swelling of your ankles and legs
  • Weakness
  • Significant weight loss
  • Shortness of breath
  • Numbness or tingling in your hands or feet
  • Diarrhea or constipation
  • Feeling full quickly
  • Severe fatigue
  • An enlarged tongue (macroglossia)
  • Skin changes, such as thickening or easy bruising
  • Purplish patches (purpura) around the eyes
  • An irregular heartbeat
  • Difficulty swallowing
  • Protein in the urine (detected by urine tests)

When to see a doctor


If you persistently experience any of the signs or symptoms that may be associated with amyloidosis, see your doctor to determine whether the underlying cause may be amyloidosis or another problem.

Cardiac (Heart) Amyloidosis


Amyloid deposits in the heart can make the walls of the heart muscle stiff. They can also make the heart muscle weaker and affect the electrical rhythm of the heart. This condition can cause less blood to flow to your heart. Eventually, your heart will no longer be able to pump. If amyloidosis affects your heart, you may have:

  • Shortness of breath with light activity
  • An irregular heartbeat
  • Signs of heart failure, including swelling of the feet and ankles, weakness, fatigue, and nausea, among others


Renal (Kidney) Amyloidosis


Your kidneys filter waste and toxins from your blood. Amyloid deposits in the kidneys make it hard for them to do this job. When your kidneys do not work properly, water and dangerous toxins build up in your body. If amyloidosis affects the kidneys, you may have:

Signs of kidney failure, including swelling of the feet and ankles and puffiness around the eyes.
High levels of protein in your urine.

Gastrointestinal Amyloidosis


Amyloid deposits along your gastrointestinal (GI) tract slow down the muscle contractions that help move food through your intestines. This interferes with digestion. If amyloidosis affects your GI tract, you may have:

  • Decreased appetite
  • Diarrhea
  • Nausea
  • Stomach pain
  • Weight loss
Liver involvement can cause liver enlargement, fluid buildup in the body, and abnormal liver function tests.

Amyloid Neuropathy


Amyloid deposits can damage the nerves outside your brain and spinal cord called the peripheral nerves. The peripheral nerves carry information between your brain and spinal cord (central nervous system) and the rest of your body. For example, they make your brain perceive pain if you burn your hand or stub your toes. If amyloidosis affects your nerves, you may have:

  • Balance problems
  • Problems controlling your bladder and bowel
  • Sweating problems
  • Tingling and weakness
Light-headedness when standing due to a problem with your body's ability to control blood pressure
Amyloidosis can also involve other organs including the lungs, skin, and spleen.

How is Amyloidosis Diagnosed?


The diagnosis of amyloidosis is often delayed either because the cause is unclear (as in primary amyloidosis) or the signs and symptoms of the underlying chronic disease mask the signs of amyloid deposits (as in secondary amyloidosis).

Upon physical examination, amyloidosis should be suspected in the presence of any combination of the signs and symptoms listed to the left or when there is:

  • Slow onset of unexplained protein in the urine
  • Unexplained kidney failure
  • Enlarged liver or spleen
  • Malabsorption of food
  • Nerve damage
  • Unexplained congestive heart failure
The following tests are performed to confirm amyloidosis:

Blood Tests


The results of blood tests can also indicate amyloidosis.  A high platelet count occurs in 5 to 10% of people with amyloidosis and may be a clue to the diagnosis.  Levels of serum alkaline phosphatase (an enzyme in the bone and the liver) may increase and occurs in about 25% of the patients with amyloidosis.  A low hemoglobin level (anemia) is not a prominent feature of amyloidosis but may occur due to kidney dysfunction, multiple myeloma or stomach bleeding. Low blood protein levels could occur because of a loss of protein through the urine and could result in increased cholesterol and triglyceride levels.

Electrocardiogram


An electrocardiogram (EKG) is a test that detects and records the flow of electrical impulses throughout the heart. When an EKG is performed on a person with amyloidosis, low voltage and false signs of heart attack may appear.

Biopsy


A biopsy, which can detect the presence of amyloids in tissues or organs, is necessary to confirm the diagnosis. The most common biopsy sites include abdominal fat, rectum, gums and bone marrow. Biopsies of the kidneys, nerves, heart or liver are sometimes performed to confirm the diagnosis.

Treatments and drugs for Amyloidosis


Though there's no cure for amyloidosis, treatment may help manage signs and symptoms and limit further production of amyloid protein.

Treating primary systemic amyloidosis 


Researchers are studying several therapies to determine their place in the treatment of amyloidosis. Ask your doctor whether these treatments are appropriate for you. For primary systemic amyloidosis, some of these include:

Medicines

Therapies include melphalan (Alkeran) or cyclophosphamide (Cytoxan) — chemotherapy agents that are also used to treat certain types of cancer — and dexamethasone, a corticosteroid used for its anti-inflammatory effects. These drugs interrupt the growth of the abnormal cells that produce amyloid protein.

Researchers are investigating other types of chemotherapy regimens for amyloidosis. Several medications that are used in the treatment of multiple myeloma are being tested to see if they're effective in treating amyloidosis. These include bortezomib (Velcade), thalidomide (Thalomid) and a thalidomide derivative called lenalidomide (Revlimid). These drugs may be used alone or in combination with dexamethasone.

Ask your doctor what clinical trials may be available to you. Undergoing chemotherapy for amyloidosis may cause side effects similar to those of chemotherapy for cancer treatment, such as nausea, vomiting, hair loss, infection and extreme fatigue.

Peripheral blood stem cell transplantation

Peripheral blood stem cell transplantation involves using high-dose chemotherapy and transfusion of previously collected immature blood cells (stem cells) to replace diseased or damaged marrow. These cells are your own (autologous transplant). Autologous transplant is the preferred approach. Not everyone is a candidate for this aggressive treatment, and it has serious risks, including death. In some research, results from stem cell transplants have been promising, although it's unclear yet whether overall survival rates are better for those given chemotherapy alone compared with those given chemotherapy and stem cell transplantation. Discuss the potential risks and benefits of this treatment with your doctor.

Treating secondary amyloidosis 


If you have secondary amyloidosis, the goal of therapy is to treat the underlying condition — for example, taking an anti-inflammatory medication for inflammatory arthritis.

Treating hereditary amyloidosis 


For hereditary amyloidosis, one possible therapy may be liver transplantation because the protein that causes this form of amyloidosis is made in the liver. In addition, researchers are investigating new drugs to stop the progression of inherited amyloidosis.

Treating complications


Because amyloidosis can cause a number of complications, you may also need treatment for those specific conditions, based on your signs and symptoms and affected organs.

For example, if amyloidosis affects your heart or kidneys, you may be asked to follow a low-salt diet to control fluid retention. Or your doctor may prescribe diuretics and other medications. In some cases, your doctor might prescribe medication for pain control.

If any of your organs are severely damaged from amyloid deposits, you may need an organ transplant. Although such a transplant won't cure you because amyloid deposits could potentially collect in the new organ as well, a transplant could prolong your life.

What are complications of amyloidosis?


Complications of amyloidosis are a function of what organs and tissues are affected and to what degree their function is impaired. Additionally, the treatments including chemotherapy as well as stem-cell and organ transplantation can have serious side effects.


What is the prognosis of amyloidosis?


The outlook for depends on the form of amyloidosis and its response to treatment. Systemic amyloidosis is slowly progressive and fatal if untreated. The average survival for AL amyloidosis is approximately one year while familial amyloidosis is up to 15 years. The outlook is adversely affected by vital organ involvement.


Can amyloidosis be prevented?


There is no prevention for amyloidosis. However, the secondary forms of amyloidosis can be prevented by treating the underlying diseases that are associated with inflammation. Genetic counseling can be beneficial in familial amyloidosis.

Home remedies for Amyloidosis


Pace yourself. If you feel short of breath, take a break. Although you'll need to avoid strenuous activities, you may be able to continue normal daily activities, such as going to work. Talk to your doctor about what's an appropriate level of activity for you.

Follow a balanced diet. Balanced nutrition is important to provide your body with an adequate energy supply.