Amyloidosis: Symptoms, Diagnosis, and Treatment

Amyloidosis is a very uncommon disorder that affects approximately one in 1000 adults, occurring most commonly in those aged 55 and over. The condition results when a buildup of a protein known as an amyloid accumulates in various parts of the body, often times affecting organs and sometimes leading to complications such as organ failure. Even though the condition is considered very rare, it is important to know exactly what it entails as it can be serious.

Symptoms Of Amyloidosis

Often times it is difficult to determine if amyloidosis is already present, as symptoms do not always manifest early on. Many times symptoms only become apparent when the disease has advanced significantly, and causing visible symptoms.

Symptoms generally vary based on the organ or location where the amyloid proteins have accumulated, but common manifestations including:

General symptoms such as:

Lethargy and tiredness
Lack of energy and feeling of weakness
Bruising or redness on the skin, particularly under the eyes which may indicate bleeding under the skin
Joint and muscle pain
Symptoms resembling carpal tunnel syndrome or tenderness and numbness originating around the wrist area
Inflamed tongue

Nerve related symptoms:

Difficulty with sensing temperature, which may cause damage to extremities, especially of the fingers and toes
Tingling, pain or numbness in the hands and legs
Dizziness especially when standing up

If the heart or lungs are affected:

Chest pain
Unsafe drops in blood pressure which may contribute to dizziness
Abnormal heart rhythms which may manifest as slow or rapid heartbeats
Getting winded easily, or experiencing shortness of breath

Kidney related symptoms:

Swelling in the legs as a result of water retention
Urine that is characteristically foamy, and indicator of excessive protein excretion

Liver related symptoms:

Pain or inflammation in the upper right quadrant of the abdomen, or jaundice like symptoms

The stomach or intestines:

Diarrhea
Constipation
Nausea or vomiting
Loss of appetite and associated weight loss
Feeling full without eating any food, or inability to sense when you have had enough

Causes And Types Of Amyloidosis

In general, amyloidosis results when amyloid proteins accumulate, being very difficult for the body to break down. Though the universal cause of amyloidosis is the namesake protein, its pathogenesis is a bit different depending on the type of amyloidosis present or at the location where it occurs.

The different types include:

Autoimmune Amyloidosis (AA)

Previously known as secondary amyloidosis, more than 50% of the people that develop this kind of amyloidosis also have an underlying autoimmune disorder, most commonly rheumatoid arthritis. It has also been known to occur in people with conditions such as inflammatory bowel disease, but can also occur following infections such as tuberculosis or many others that cause significant inflammation.

The amyloid deposits most often form in and around the kidneys, but may also occur at the location of the liver, heart or intestines.

Light Chain Amyloidosis (AL)

The most common type of amyloidosis, this occurs when amyloid proteins form “light” chains and build up in areas such as the heart, kidneys, liver and also the skin. This type was previously known as primary amyloidosis.

Dialysis Related Amyloidosis

Usually occurs in people who have been undergoing dialysis treatments for a long period of time, but the amyloid deposits do not form at the location of the kidney. Rather, the most common accompaniment is pain and inflammation around the location of the joints.

Hereditary Amyloidosis

Also known as familial amyloidosis, this type usually occurs in families and is believed to be due the mutation of a gene. This type of amyloidosis most frequently affects the heart, kidneys, liver and nerves.

Risk Factors For Amyloidosis

Anyone can develop amyloidosis, but there are certain factors that tend increase your risk. These include:

Genetics – having a first degree relative with amyloidosis significantly increases your risk of also developing the disease.

Gender – about seven in 10 persons diagnosed with amyloidosis are male.

Age – most people that develop spontaneous amyloidosis, which is the AL type, do so beyond the age of 55. However, it also occurs in younger people as well.

Ethnicity – being of African descent is associated with a higher risk of amyloidosis, and also more likely to experience a type that affects the heart.

Comorbidities – if you suffer from certain diseases, such as those that are autoimmune in nature or which have an inflammatory component, your risk of developing amyloidosis is higher.

Diagnosis Of Amyloidosis

Sadly, most often diagnosis of amyloidosis does not occur early, as symptoms may mimic those of common diseases. However, early diagnosed cases can help to greatly reduce the possibility of complications or organ damage from being experienced. Persons with a familial history are most likely to be diagnosed early.

Diagnostic modalities your physician may use include:

Physical Exams

Lab Testing

Including blood and urine tests to detect the presence of abnormal proteins. If other symptoms are present, liver function tests may also be ordered.

Biopsy

Taking a sample of cells from an area of the body where suspected amyloid deposits may be present may also be necessary. These areas may include bone marrow, liver, kidneys, or fatty cells around abdomen.

Imaging Tests

By forming complete images of organ systems your physician may be able to determine if they are affected by the amyloid deposits. ECG of the heart can also help to determine normal electrical function and size of the heart.

Treatment Of Amyloidosis

Treatment approaches attempt to alleviate the symptoms of the condition since no cure is available. These may include:

Analgesic medications
Diuretics to reduce fluid retention if the kidneys are affected
Anticoagulants or blood thinners to help prevent excessive clotting
Medication to treat nausea, vomiting, constipation or diarrhea that offer symptomatic relief.

In addition to these general approaches, amyloidosis specific modalities include:

AL Amyloidosis

Often times treated with chemotherapeutic agents, which are the same ones used to treats cancerous malignancies.

These medications destroy cells that produce the amyloidosis deposits, but are well-known to also disrupt the production of red blood cells and deplete bone marrow stem cells. Bone marrow transplants are often needed after this approach.

Immunomodulators – these are medications that are used to reduce the likelihood of organ rejection following transplantation. They work by reducing the efficiency of the immune system, but at the risk of making you more susceptible to illness.

Proteasome inhibitors-these medications block specific enzymes that break down proteins.

AA Amyloidosis

Treatment approaches differ based on the underlying cause. Common approaches may include antibiotics if the cause is bacterial in nature, or anti-inflammatory medications to help reduce or control autoimmune disorders.

Dialysis Related Amyloidosis

Kidney transplants or changing the type of dialysis received may help to prevent amyloidosis deposits from forming.

Genetic Amyloidosis

Abnormal proteins are found in the liver of persons with genetic amyloidosis, necessitating the need for liver transplant in some instances.

Summary

Though it may be difficult to diagnose amyloidosis in many instances, regular medical checkups are a great place to start. Be sure to perform routine tests, and stay on top of any comorbidities you may have been positively diagnosed with.

If you share a genetic link, your physician can keep a closer eye on you in the eventuality that you develop the condition.

Sources:

https://www.mayoclinic.org/diseases-conditions/amyloidosis/diagnosis-treatment/drc-20353183
https://www.healthline.com/health/amyloidosis#complications
https://emedicine.medscape.com/article/335414-overview