Amyloidosis - Causes, Symptoms, Types, Risk Factors, Diagnosis and Treatment

What Is Amyloidosis?

Amyloidosis pronounced as (am-uh-loi-DO-sis) is a disease that has a rare occurrence. It is seen to happen when an abnormal protein, known as amyloid, starts to build up in the organs and affects the normal function.

Amyloid is a protein that is not usually found in the body and its formation occurs from several different types of protein. When it is normally formed in the body due to the physiologic process, they help in performing various beneficial processes in the body like the formation of long-term memory, gradual release of stored peptide hormones, etc.

Pathologically formed amyloid material causes amyloidosis and the amyloid material has various types of appearances under different types of microscopes like fibrillar, amorphous, apple birefringence, etc. Organs that can get affected are the heart, kidneys, nervous system, liver, spleen, and digestive tract.

Sometimes, amyloidosis can occur in association with other diseases and may improve with treatment of the underlying disease. Some types of amyloidosis may prove to be life-threatening as they can cause organ failure.

What Are the Symptoms of Amyloidosis?

The signs and symptoms of amyloidosis can be experienced during the advanced stages and it depends on the organ that is affected.

Some of the signs and symptoms include:

• Swelling in the ankles and legs.

• Severe tiredness and weakness.

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• Shortness of breath with minimal exertion.

• Carpal Tunnel Syndrome: It may cause numbness, tingling sensation in hands or feet, and pain in the wrist.

• Diarrhea which can be combined with blood, or constipation.

• Unexplainable loss of weight.

• Tongue enlargement which can have a rippled appearance around its edge.

• Changes in the skin like thickening or easy bruising, purplish patches around the eyes, etc.

• Heartbeat irregularity.

• Swallowing difficulty.

What Are the Types and Causes of Amyloidosis?

First, we should understand the types before learning about the causes. It can be classified into local and systemic. Some of these can be hereditary and others may have external causative factors like inflammatory diseases or long-term dialysis. The systemic type can affect multiple organs and the local type affects only one part or organ of the body.

The subtypes of amyloidosis are as follows:

• AL Amyloidosis (Immunoglobulin Light Chain Amyloidosis): It is the most common type of amyloidosis seen in developed countries and is also called primary amyloidosis. It usually affects the heart, kidneys, liver, and nerves.

• AA Amyloidosis: It is also known as secondary amyloidosis and is usually initiated by an inflammatory disease like rheumatoid arthritis.

• Hereditary Amyloidosis (Familial Amyloidosis): This type is an inherited disorder commonly affecting the nerves, heart, and kidneys. It most frequently happens when there is abnormal protein production by the liver and this protein is called transthyretin (TTR).

• Wild-type Amyloidosis: This type of amyloidosis occurs when the TTR protein is normally produced by the liver but amyloid production is there for anonymous reasons. It is also known as senile systemic amyloidosis. It is known to affect men above 70 years of age and typically involves the heart. It can also lead to carpal tunnel syndrome.

• Localized Amyloidosis: This type of amyloidosis often has a better prognosis when compared to other varieties that affect multiple organ systems. Typically, localized amyloidosis can be seen as involving the bladder, skin, throat, or lungs. In these cases, correct diagnosis is important to give better treatment and prevent systemic involvement.

Are There Any Risk Factors for Amyloidosis?

Yes, various risk factors can lead to amyloidosis and they are as follows:

• Age: Commonly seen in people between 60 to 70 years, although younger people can also be affected.

• Sex: More common in men.

• Other conditions like a chronic infectious or inflammatory disease.

• History of amyloidosis in the family.

• Dialysis of the kidney.

Are There Any Complications for Amyloidosis?

Yes, if amyloidosis is not managed properly on time, it can lead to certain complications depending on the type of organ involvement. Some of them are associated with the heart, kidneys, and nervous system and it can also become life-threatening sometimes.

How Can Amyloidosis Be Diagnosed?

Amyloidosis is not usually kept in mind while thinking of differential diagnosis as the symptoms are similar to certain normally occurring conditions in the body. If the diagnosis is done early, it can prevent further damage to the organ.

Initially, when you visit your physician, you will be asked questions about your personal and medical history and the symptoms you have. After that, some laboratory tests, imaging tests, and a few other investigations can be done as required. Some of the laboratory tests that can be performed include blood and urine tests to check for abnormal protein content, thyroid function tests, liver function tests, and biopsy can be done. Some other imaging diagnostic modalities include nuclear imaging, magnetic resonance imaging (MRI), and echocardiogram.

How Can Amyloidosis Be Treated?

There is no specific treatment that can cure amyloidosis but the management of signs and symptoms can be done along with the prevention of further production of amyloid material in the body. If amyloidosis is due to some other underlying condition in the body, it is advisable to manage or treat that underlying condition first.

Certain medications can be initially given which includes chemotherapy, medications for the proper functioning of the heart like blood thinners, etc., and certain specific treatments like Patisiran (Onpattro) and Inotersen (Tegsedi), Tafamidis (Vyndamax, Vyndaqel), etc.

In some cases, surgical management may be required along with certain other interventional procedures like autologous blood stem cell transplant (it is a procedure where your own stem cells are collected from your blood via a vein and stored for a short time while you are having high-dose chemotherapy. Later, these stem cells are returned to your body through a vein. This type of treatment is more beneficial for individuals who do not have advanced disease and those whose heart has not been greatly affected), kidney dialysis, and in case of severe damages, organ transplant can be preferred.

Conclusion:

Amyloidosis, though not so common, can affect the functioning of various organs in the body and if not managed adequately, it may lead to certain complications that can even prove to be life-threatening. Online medical platforms have made consulting your physician or any specialist easy. Hence, consult a specialist online to get more details about this.