Amyloidosis

Overview

Amyloidosis is a rare condition characterized by the accumulation of a protein called amyloid in organs, which can disrupt their normal functioning. It can either affect multiple organs throughout the body (systemic) or be localized to a specific area. Organs commonly impacted by amyloidosis include the heart, kidneys, liver, spleen, nervous system, and digestive tract. The classification of amyloidosis depends on the specific type of amyloid protein involved.

Sometimes, amyloidosis occurs alongside other diseases, and treating the underlying conditions can potentially improve the symptoms of amyloidosis. However, in severe cases, amyloidosis can lead to organ failure, which can be life-threatening.

Treatment options for amyloidosis typically involve the use of potent chemotherapy drugs used in cancer treatment. Additionally, specific medications can be prescribed to reduce amyloid production and manage symptoms. In some cases, organ or stem cell transplants may be recommended to address the effects of amyloidosis.

Symptoms

Symptoms of amyloidosis may not manifest until the disease has progressed further. The specific symptoms experienced can vary, depending on the organs that are affected.

Amyloidosis signs and symptoms can include:

• Severe fatigue and weakness
• Shortness of breath
• Numbness and tingling of hands and feet
• Pain in the hands or feet
• Swelling of the ankles and legs
• Constipation or diarrhea that may be bloody
• Swollen tongue that occasionally appears to have ripples around the edge.
• Purplish spots around the eyes and thickening or easy bruising of the skin
• Sudden unexplained weight loss

If the patient consistently exhibits any of the amyloidosis-related signs or symptoms, they should see a healthcare provider.

Causes

Amyloidosis occurs when the body’s proteins change, forming clumps of misshaped proteins that settle on particular organs and tissues. There are several kinds of amyloidosis. Some types run in families. Others are brought on by external causes like chronic dialysis or inflammatory illnesses. Several types affect several organs. Others only impact a single area of the body.

There are times when someone develops amyloidosis as a result of an underlying illness that could be related to a specific type of amyloidosis. For instance, 12% to 15% of those who develop AL also have multiple myeloma, a blood condition. In your bone marrow, abnormal plasma cells form and grow uncontrollably to cause multiple myeloma.

The types of amyloidosis that are most common are:

• AL amyloidosis (immunoglobulin light chain amyloidosis): AL amyloidosis is a condition characterized by a disorder in plasma cells, which are essential components of the immune system. These specialized cells produce antibodies, including immunoglobulin proteins composed of both heavy and light protein chains, to combat infections. However, in AL amyloidosis, the plasma cells generate excessive abnormal light chains. These light chains undergo misfolding and aggregation, forming amyloid fibrils that accumulate in various organs. Primarily, AL amyloidosis tends to impact the heart (referred to as cardiac amyloidosis) and kidneys. Additionally, it can affect other organs such as the stomach, large intestine, liver, nerves, and skin.
• AA amyloidosis: Excessive levels of serum A protein in the body lead to the development of this particular type of amyloidosis. The accumulation of serum A protein occurs as a result of prolonged abnormal inflammation in the body. Rheumatoid arthritis, inflammatory bowel disease, and chronic infections are some of the conditions that can trigger AA. AA primarily affects the kidneys, liver, stomach, and intestines, and in rare cases, it may also impact the heart.
• Amyloid transthyretin protein or TRR protein (ATTR): Transthyretin protein, or TRR, is created in the liver. Thyroid hormone and vitamin A are carried in the blood by this protein. The kidneys, heart, and nerves are all frequently affected by this inherited condition. It often occurs when a protein produced abnormally by the liver. When the transthyretin protein fragments, fibrils are produced that lodge in the heart and/or nerves, causing ATTR.
• Wild-type amyloidosis: This particular type of amyloidosis is sometimes referred to as senile systemic amyloidosis. It occurs when the liver produces a normal TTR protein, but for reasons that are not yet understood, it leads to the production of amyloid. Wild-type amyloidosis typically affects men who are over the age of 70 and primarily affects the heart. Additionally, it may result in the development of carpal tunnel syndrome.
• Localized amyloidosis: Localized amyloidosis, which commonly affects the bladder, skin, throat, or lungs, generally carries a more favorable prognosis compared to the types that involve multiple organ systems. It is crucial to accurately diagnose this condition to prevent the use of treatments that have a widespread impact on the entire body.

Risk factors

The following factors increase the risk of amyloidosis:

• Age: Most amyloidosis diagnoses are made in patients between the ages of 60 and 70.
• Sex: The condition affects more men than women.
• Family history: Certain forms of amyloidosis are inherited.
• Race: African Americans appear to be more likely than other people to have a genetic mutation linked to a heart-harming form of amyloidosis.
• Other diseases: The chance of developing AA amyloidosis is increased by having a chronic inflammatory or infectious condition.
• Kidney dialysis: Large proteins cannot usually be removed from the blood by dialysis. Abnormal proteins can accumulate in the blood of dialysis patients and eventually deposit in tissue. With more recent dialysis methods, this syndrome is less frequent.