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

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Amyloidosis is a protein disorder that can lead to life-threatening organ failure. Read this article to know more about this condition.

Medically reviewed by

Dr. Mohammed Abdul Nasir

Published At April 19, 2022
Reviewed AtMay 9, 2024

What Is Amyloidosis?

Amyloidosis 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 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, it helps 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 appearances under different types of microscopes, such as 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.

  • 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 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, one 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 such as 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 liver normally produces the TTR protein, 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 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 they can also become life-threatening sometimes.

How Can Amyloidosis Be Diagnosed?

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

Initially, when individuals visit the physician, they will be asked questions about their personal and medical history and the symptoms they have. After that, some laboratory tests, imaging tests, and a few other investigations can be done as required.

  • Laboratory Examinations - A test for aberrant proteins that might point to amyloidosis can be performed on urine and blood. Tests for thyroid and renal function may also be necessary for people exhibiting certain symptoms.

  • Biopsy - It is possible to examine a tissue sample for amyloidosis indications. The bone marrow or the fat beneath the skin of the abdomen may be used for the biopsy. A biopsy of an afflicted organ, such as the kidney or liver, may be necessary for some individuals. To determine the kind of amyloid implicated, tests can be performed on the tissue.
  • Imaging Examinations -

    • Echocardiography: With the application of sound waves, this technique may produce moving visuals that demonstrate the heart's function. Additionally, it may demonstrate cardiac damage unique to some forms of amyloidosis.

    • MRI (Magnetic Resonance Imaging): An intense magnetic field combined with radio waves allows MRI to produce finely detailed images of tissues and organs. These can be used to examine the heart's anatomy and physiology.

    • Nuclear Imaging: Tiny doses of radioactive material, or tracers, are administered into a vein during this procedure. This may show initial heart damage from specific forms of amyloidosis. Additionally, it can assist in differentiating various forms of amyloidosis, which could assist with therapy choices.

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, including chemotherapy, medications for the proper functioning of the heart like blood thinners, etc., and specific treatments like Patisiran and Inotersen, Tafamidis, 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 one’s stem cells are collected from the blood via a vein and stored for a short time while having high-dose chemotherapy). Later, these stem cells are returned to the 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 damage, organ transplant can be preferred.

When to visit a physician?

If individuals frequently exhibit any of the symptoms or indicators of amyloidosis, consult a doctor.

Conclusion:

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

Frequently Asked Questions

1.

How Do You Know You Have Amyloidosis?

The symptoms of amyloidosis vary as per the affected body part. The symptoms common to any type of amyloidosis include,
- Swelling in the affected organ.
- Pain and discomfort.
- Constantly feeling weak.
- Numbing sensation.
- Unplanned weight loss.

2.

What Are the Tests Done to Confirm Amyloidosis?

Blood and urine tests confirm the presence of amyloid protein, help detect which organs are affected, and notice the seriousness of the disease. Also, a biopsy or a tissue sample is taken from the affected organs and analyzed for amyloidosis. Then, depending upon the suspected organs, imaging tests like MRI (magnetic resonance imaging) and CT (computed tomography) scan, echocardiogram, etc., are done.

3.

What Is the Prevalence of Amyloidosis?

According to the reports, around 4000 people are affected by AL amyloidosis per year in the United States. Whereas familial amyloidosis affects 4 % of the African Americans, who are most commonly affected by amyloidosis.

4.

What Does Cardiac Amyloidosis Mean?

Cardiac amyloidosis means amyloidosis of the heart. It is when the amyloid protein gets deposited in the heart tissue. These deposits compromise the heart's functions. Cardiac amyloidosis is a serious condition with no permanent cure; medications can only reduce its rate of progression.

5.

Who Is Most Commonly Affected by Amyloidosis?

Amyloidosis occurs more commonly in older adults who are in the fifth to seventh decade of life. However, there are a few cases diagnosed in the younger population as well.
Also, amyloidosis shows a male predilection.

6.

How Is Amyloidosis Treated?

- The term cure does not exist for amyloidosis. It can only be slowed down, and the severity can be reduced by using medications.
- The common treatment options for amyloidosis include chemotherapy, targeted drug therapy, stem cell transplant, and organ transplant, done in severe cases.
- Also, treatments are done to improve the normal functioning of the affected organs, such as dialysis in case of amyloidosis in the kidneys, heart medications for amyloidosis of the heart, and so on.

7.

How Does Amyloidosis Affect the Legs?

When affecting the legs, amyloidosis presents as swelling in the legs and the ankles. It may also involve skin lesions such as blisters, papules, and purpuric spots in the legs that could be itchy.

8.

What Does Pulmonary Amyloidosis Mean?

Pulmonary amyloidosis means the amyloidosis of the lungs. It is characterized by the deposition of an abnormal protein called amyloid extracellularly (outside the cell) in the lungs, which leads to improper functioning of the lungs, which could even become fatal. It is a not-so-common condition, though a few cases have been reported. Pulmonary amyloidosis can occur by itself or as a part of systemic amyloidosis.

9.

What Are the Effects of Amyloidosis on the Heart?

Cardiac amyloidosis is when the amyloid proteins take the place of the normal heart muscles. The heart has the ability to fill itself with blood between the heartbeats which gets compromised if amyloidosis affects the heart, thereby pumping lesser blood than usual. It can also affect the cardiac rhythm and the heart's signals and even cause abnormal heartbeats.

10.

Does Amyloidosis Have Types? If So, What Are They?

Yes, there are four main types of amyloidosis, namely;
- AL amyloidosis (light chain amyloidosis) or primary amyloidosis.
- AA amyloidosis (inflammation-related amyloidosis.
- A

11.

What Is the Timeframe for Amyloidosis to Develop?

After the symptoms start, it takes about a month to two years for the condition to be diagnosed as amyloidosis, as per reports.

12.

What Causes Amyloidosis?

Plasma cells are a type of white blood cell that has the ability to produce antibodies and immunoglobulins, which play an essential role in immunity. When there is an abnormality in the plasma cells, they produce abnormal proteins (amyloids) that enter the bloodstream and deposit in various organs, causing amyloidosis.

13.

What Are the Features of Skin Amyloidosis?

The common clinical signs associated with skin or cutaneous amyloidosis are;
- Patchy thickening of the skin.
- Itching.
- Purpura (purplish spots or patches in the skin), petechiae (pinpoint spots of bleeding under the skin), ecchymoses (discoloration of the skin due to bleeding underneath).
- Patchy hair loss.
- Blisters and papules on the skin.

14.

Is Amyloidosis Associated With Weight Gain?

The usual symptom of amyloidosis is weight loss, but when amyloidosis affects the kidneys, it can lead to swollen legs, thereby leading to weight gain.

15.

Is There Fatality Due to Amyloidosis?

Amyloidosis can affect various vital organs of the body; if the progression of the disease is not managed, it can spread rapidly and hence becomes fatal.

16.

Which Vitamins Work Best for Amyloidosis?

It has been observed that vitamin C helps in preventing amyloid from worsening. Also, omega-3-fatty acids and vitamin D have shown effects in clearing the amyloid deposits.

17.

Are There Stages of Amyloidosis?

The stages of amyloidosis range from stage I to stage IV as classified by the Mayo clinic in 2012;
Stage I - no risk factors.
Stage II - one risk factor.
Stage III - two risk factors.
Stage IV - three risk factors.

18.

Are There Any Food Restrictions for Amyloidosis?

Diet alterations in amyloidosis patients are based on the organs affected. If the gastrointestinal tract is involved, it is advised to minimize acidic and spicy foods. Similarly, in patients with amyloidosis involving the kidney, low salt, and low sodium diet is advised. It is good to consume fish, fruits, vegetables, whole grains, and olive oil as recommended.

19.

Is Amyloidosis a Serious Condition?

Amyloidosis indeed is a serious condition as it can involve multiple organ failures. It does not have a proper cure yet. The only management that exists for amyloidosis is controlling the disease progression and managing the symptoms. Diagnosis of the condition correctly and in earlier stages can slow down the disease process.

20.

What Is the Rate of Progression of Amyloidosis?

Studies suggest that it is a rapidly progressing disease and affects the heart in almost half of the cases, which decreases the survival rate.
Dr. Mohammed Abdul Nasir
Dr. Mohammed Abdul Nasir

Pain Medicine

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