Amyloidosis

What is Amyloidosis?

Amyloidosis is a rare disease where abnormal proteins called amyloid build up in your tissues and organs. These proteins fold incorrectly and clump together in places they do not belong. Over time, this buildup can damage your organs and affect how they work.

Your body normally breaks down old or damaged proteins. In amyloidosis, certain proteins misfold and stick together instead. These clumps form deposits that can collect in your heart, kidneys, liver, spleen, nervous system, or digestive tract. The type of protein involved and where it deposits determine which organs are affected.

There are several types of amyloidosis. Light chain amyloidosis, also called AL amyloidosis, is the most common type in developed countries. It happens when plasma cells in your bone marrow produce abnormal antibody proteins. Other types include AA amyloidosis, which can result from chronic infections or inflammatory diseases, and hereditary amyloidosis, which runs in families.

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Symptoms

Severe fatigue and weakness that limits daily activities
Shortness of breath with mild activity or at rest
Swelling in your ankles, legs, or abdomen
Numbness, tingling, or pain in your hands or feet
Unintentional weight loss of 10 pounds or more
Diarrhea or constipation that does not improve
Enlarged tongue or difficulty swallowing
Purple patches or easy bruising around your eyes
Irregular heartbeat or feeling dizzy when standing
Foamy urine that may signal kidney problems

Many people have no symptoms in the early stages of amyloidosis. Symptoms often develop slowly as amyloid deposits grow larger. The symptoms you experience depend on which organs are affected by protein buildup.

Causes and risk factors

Amyloidosis happens when proteins fold incorrectly and form deposits in your body. In AL amyloidosis, plasma cells in your bone marrow make abnormal light chain proteins. These proteins travel through your bloodstream and deposit in organs. In AA amyloidosis, chronic inflammatory conditions like rheumatoid arthritis or inflammatory bowel disease trigger production of an acute phase protein called SAA. Hereditary amyloidosis results from genetic mutations that produce unstable proteins, most commonly transthyretin.

Risk factors include being over age 60, having certain blood disorders like multiple myeloma, chronic infections or inflammatory diseases, family history of amyloidosis, kidney disease requiring dialysis, and being of African descent for certain hereditary types. Men develop AL amyloidosis more often than women. Having one or more risk factors does not mean you will develop amyloidosis, but it increases your chances.

How it's diagnosed

Doctors diagnose amyloidosis through a combination of blood tests, urine tests, imaging, and tissue biopsies. Blood tests can detect abnormal proteins in your bloodstream. Protein electrophoresis separates proteins by size to identify unusual patterns. Immunofixation tests identify specific types of abnormal proteins. Free light chain tests measure the levels of kappa and lambda light chains and their ratio. Beta 2 microglobulin levels may be elevated in certain types.

A tissue biopsy is usually needed to confirm amyloidosis. Your doctor takes a small sample of tissue from an affected organ or from abdominal fat or bone marrow. The sample is stained with a special dye called Congo red that makes amyloid deposits visible under a microscope. Additional testing identifies which protein type is causing the deposits. This helps determine the best treatment approach. Talk to a doctor about specialized testing if you have symptoms or risk factors for amyloidosis.

Treatment options

Chemotherapy medications to stop abnormal plasma cells from making harmful proteins in AL amyloidosis
Stem cell transplant to replace diseased bone marrow with healthy cells in eligible patients
Medications to stabilize abnormal proteins and prevent further deposits in hereditary types
Treating underlying inflammatory conditions that trigger AA amyloidosis
Heart medications to manage fluid buildup and irregular heart rhythms
Kidney support including dialysis if kidney function declines significantly
Low salt diet to reduce fluid retention and swelling
Physical therapy to maintain strength and manage neuropathy symptoms
Regular monitoring with blood tests and imaging to track disease progression
Supportive care for specific organ damage as needed

Frequently asked questions

Life expectancy varies widely depending on the type of amyloidosis and which organs are affected. AL amyloidosis involving the heart may have a median survival of 6 months to several years without treatment. With modern treatments like chemotherapy and stem cell transplants, many patients live much longer. Some types like hereditary amyloidosis progress more slowly and may allow for decades of life with proper management.

There is no cure for amyloidosis, but treatment can slow or stop the production of abnormal proteins. In AL amyloidosis, chemotherapy can eliminate the plasma cells producing harmful proteins. Stem cell transplants may lead to long remissions in some patients. For hereditary types, liver transplant can remove the source of abnormal protein production. Early diagnosis and treatment improve outcomes significantly.

Amyloidosis itself is not cancer, but AL amyloidosis is closely related to blood cancers. It occurs when plasma cells produce abnormal proteins, similar to what happens in multiple myeloma. Some people with AL amyloidosis also have or develop multiple myeloma. Treatment often involves chemotherapy drugs used for blood cancers because they target the abnormal plasma cells.

Early symptoms are often vague and easy to miss. Unexplained fatigue, shortness of breath, and swelling in the ankles or legs are common. Some people notice numbness or tingling in their hands and feet. Weight loss without trying, changes in bowel habits, or foamy urine may also appear early. Many people have no symptoms until significant organ damage has occurred.

Amyloidosis involves proteins that misfold and form deposits in tissues, causing organ damage. Other protein disorders may involve too much or too little of a protein, but not necessarily protein deposits. The amyloid deposits have a unique structure that can be seen with special staining. The way these proteins accumulate and damage organs makes amyloidosis distinct from conditions like antibody deficiencies or enzyme disorders.

Lifestyle changes support treatment but cannot cure amyloidosis. A low salt diet helps reduce fluid retention and swelling. Limiting fluids may be necessary if your heart or kidneys are affected. Regular gentle exercise maintains strength without overworking damaged organs. Avoiding alcohol protects your liver and heart. These changes improve quality of life and may slow disease progression when combined with medical treatment.

Several blood tests help identify abnormal proteins in amyloidosis. Protein electrophoresis separates proteins to find unusual patterns. Immunofixation identifies specific types of abnormal proteins like light chains. Free light chain tests measure kappa and lambda proteins and calculate their ratio. Beta 2 microglobulin levels may be elevated. These tests suggest amyloidosis but tissue biopsy is needed to confirm the diagnosis.

Some types of amyloidosis are hereditary and run in families. Hereditary ATTR amyloidosis results from genetic mutations passed down through generations. If a parent has the mutation, each child has a 50 percent chance of inheriting it. AL amyloidosis and AA amyloidosis are not inherited. Genetic testing can identify mutations in people with family history of amyloidosis.

Amyloidosis most often affects the heart, kidneys, liver, spleen, nervous system, and digestive tract. Heart involvement can cause irregular rhythms and heart failure. Kidney deposits lead to protein in urine and kidney failure. Liver and spleen enlargement may occur. Nerve damage causes numbness, tingling, or pain. The tongue may enlarge, and digestive problems like diarrhea can develop.

Testing frequency depends on your specific risk factors and symptoms. People with multiple myeloma or related blood disorders should have regular protein testing as recommended by their doctor. Those with chronic inflammatory diseases may need periodic screening if symptoms develop. If you have a family history of hereditary amyloidosis, talk to a genetic counselor about testing. Anyone with unexplained symptoms should seek medical evaluation promptly.