Musculoskeletal Manifestations of Amyloidosis

Introduction:

Amyloidosis is a rare condition caused by the accumulation of a protein called amyloid in organs. This amyloid build-up can prevent organs from functioning properly. Affected organs include the heart, kidneys, liver, spleen, nervous system, and gastrointestinal tract. Some types of amyloidosis coexist with other diseases. These types may improve with the treatment of other disorders. Some forms of amyloidosis can lead to life-threatening organ failure. Treatment may include chemotherapy with strong drugs used to treat cancer. Other types of drugs can reduce amyloid production and control symptoms. Some people can benefit from organ or stem cell transplants.

What Are The Different Types Of Amyloidosis?

Different types of amyloidosis are listed below:

• AL Amyloidosis(Immunoglobulin Light Chain Amyloidosis) - It is a common form of amyloidosis in developed nations. AL amyloidosis is also called primary amyloidosis. It usually affects the heart, liver, kidneys, and nerves.

• AA Amyloidosis - This type is also known as secondary amyloidosis. It is usually caused by inflammatory diseases such as rheumatoid arthritis. The kidneys, liver, and spleen are most commonly affected.

• Hereditary Amyloidosis (Familial Amyloidosis) - This genetic disorder often affects the nerves, heart, and kidneys. Most commonly, it occurs when proteins made by the liver are abnormal. This protein is called transthyretin (TTR).

• Wild-Type Amyloidosis - This type is also called senile systemic amyloidosis. It occurs when the TTR protein produced in the liver is normal, but for unknown reasons, it produces amyloid. Wild-type amyloidosis tends to affect men over the age of 70 and often targets the heart. It can also cause carpal tunnel syndrome.

• Localized Amyloidosis - This type of amyloidosis often has a better prognosis than variants that affect multiple organ systems. Typical locations for focal amyloidosis are the bladder, skin, throat, or lungs. Proper diagnosis is important to avoid treatments that affect the whole body.

What Are Musculoskeletal Manifestations of Amyloidosis?

The musculoskeletal manifestations of amyloidosis may not appear until later in the disease process. Symptoms depend on the organ affected. Listed below are some musculoskeletal manifestations of amyloidosis–

• Myopathy - Muscle weakness.

• Pseudohypertrophy - Muscle enlargement due to amyloid infiltration.

• Arthropathy - Disorders of the joints.

• Osteopathy - Lesions of bone.

What Are the Risk Factors for Musculoskeletal Manifestations of Amyloidosis?

Factors that raise the risk of amyloidosis include:

• Age - Most people diagnosed with amyloidosis are between 60 to 70 years of age.

• Sex - Amyloidosis is more common in men.

• Other Conditions - Chronic infections or inflammatory diseases increase the risk of AA amyloidosis.

• Dialysis - Dialysis cannot always remove large proteins from the blood. During dialysis, abnormal proteins can build up in the blood and eventually deposit in tissues. This condition is much less common with modern dialysis techniques.

• Race - People of African descent appear to be at increased risk of carrying genetic mutations associated with amyloidosis that can damage the heart.

• Family History - Some types of amyloidosis are hereditary.

What Are the Symptoms of Musculoskeletal Manifestations of Amyloidosis?

The signs and symptoms of musculoskeletal manifestations of amyloidosis are mentioned below:

• Severe fatigue and weakness.

• Enlarged muscle.

• Difficulty in breathing.

• Pain in muscles.

• Numbness and tingling, or pain in hands or feet.

• Diarrhea with traces of blood.

• Constipation.

• Swelling of joints.

• An enlarged tongue with wavy edges.

• Thickening of skin around the eyes,

• Easy bruising.

• Purple spots on the skin.

How Are Musculoskeletal Manifestations of Amyloidosis Diagnosed?

Amyloidosis is often overlooked because signs and symptoms can resemble those of more common diseases. Early diagnosis can help prevent further organ damage. Accurate diagnosis is essential because treatment varies depending on the condition.

• Clinical Examination -

1. Blood and Urine Examination - Blood and urine can be analyzed to look for abnormal proteins that may indicate amyloidosis.

2. Thyroid and Kidney Test - People may also require thyroid and kidney function tests.

3. Biopsy - Tissue samples may be tested for signs of amyloidosis. A biopsy can be taken from the abdomen’s subcutaneous fat or bone marrow. Some people need a biopsy of the affected organ, such as the liver or kidney. The tissue can be examined to determine what type of amyloid it is.

• Imaging Tests -

1. Echocardiogram - This technology uses sound waves to create videos showing how well the heart works. It may also indicate heart damage specific to certain types of amyloidosis.

2. Magnetic Resonance Imaging (MRI) - MRI uses radio waves and a strong magnetic field to make detailed pictures of organs and tissues. These can be used to check the function and structure of the heart.

3. Nuclear Imaging - A small amount of a radioactive substance (tracer) is injected into a vein for this test. This can indicate early heart damage caused by amyloidosis. It also helps distinguish between different types of amyloidosis, which can guide treatment decisions.

What Is the Treatment of Musculoskeletal Manifestations of Amyloidosis?

There is no cure for amyloidosis. However, treatment can help manage signs and symptoms and limit the further production of amyloid protein. If amyloidosis is caused by another condition, such as rheumatoid arthritis or tuberculosis, treatment of the underlying disease may help. Mentioned below are some treatment methods which may be used for managing amyloidosis:

• Chemotherapy - Some anticancer drugs are used in AL amyloidosis to impede the growth of abnormal cells that make amyloid protein.

• Heart Medicine - If the heart is affected, the person may need to take blood thinners to minimize the risk of blood clots. They may also need drugs to control their heart rate. Drugs that increase urination (water pills) can reduce the strain on the heart and kidneys.

• Targeted Therapy - In certain types of amyloidosis, drugs such as Patisiran and Innotersen can disrupt the commands sent by the defective genes that create amyloid. Other drugs, such as Tafamidis and Diflunisal, can stabilize protein fragments in the bloodstream and prevent them from turning into amyloid deposits.

Surgical and Other Procedures:

• Autologous Stem Cell Transplantation - In this procedure, a person's stem cells are taken from the blood through a vein and stored for a short period during high-dose chemotherapy. The stem cells are then reintroduced into the body through veins. This treatment is best for people having a disease that has not advanced and whose heart is not severely affected.

• Dialysis - If amyloidosis has damaged the kidneys, dialysis should be started. This procedure uses a machine to periodically filter waste, salt, and water from the blood.

• Organ Transplantation - If amyloid deposits have severely damaged the heart or kidneys, surgery may be needed to replace those organs that may stop functioning.

What Are the Complications of Musculoskeletal Manifestations of Amyloidosis?

The complications of musculoskeletal manifestations of amyloidosis are listed below:

• Heart - Amyloid reduces the heart's ability to fill with blood between beats. Less blood is pumped with each heartbeat. This can lead to shortness of breath. When amyloidosis affects the heart's electrical system, it can precipitate irregular heartbeats. Amyloid-related heart problems can be life-threatening.

• Kidney - Amyloid can damage the kidney's filtration system. This affects the ability to remove waste products from the body. It can eventually lead to kidney failure.

• Nervous System - Nerve damage can cause pain, numbness, and tingling in fingers and feet. Constipation and diarrhea may alternate when amyloid affects the nerves that control bowel function. If the nerves that control blood pressure are damaged, people may faint with a sudden change in posture.

How to Prevent Musculoskeletal Manifestations of Amyloidosis?

Musculoskeletal manifestations of amyloidosis can be prevented in the following ways:

• Fish Oil Supplements - They are rich in omega-3 fatty acids. They help reduce inflammation in chronic inflammatory conditions such as rheumatoid arthritis. Eating seafood may be more beneficial than taking fish oil supplements.

• Vitamin C -Vitamin C has antioxidant properties and is found in citrus fruits, dark leafy greens, berries, and other foods. High doses of vitamin C help the body break down amyloid and prevent amyloidosis from getting worse.

• Quercetin - It is a flavonoid compound found in some plants (including onions, berries, tea, broccoli, and apples). Quercetin has been investigated in vitro studies as an anti-inflammatory or antioxidant agent. Several studies have shown that quercetin improved brain function in mouse models of Alzheimer's disease. Quercetin may interact with certain medications, and there have been some reports of kidney damage at high doses. The doctor must be consulted before taking Quercetin.

Conclusion:

Amyloidosis (AL) is a condition wherein there is a deposition of a protein called amyloid in various parts of the body. Amyloidosis can occur as an isolated disease (primary amyloidosis) or as a consequence of another disease (secondary amyloidosis). AL causes musculoskeletal symptoms, which can affect a person’s daily activities. AL was once thought to be incurable and fatal. However, most patients live 2 to 10 years after diagnosis with current therapy. The survival rate depends on the extent of cardiac and renal involvement. After diagnosis, a doctor may perform regular tests to check the levels of protein-related substances, the size and placement of amyloid deposits, the onset of disease, and the effectiveness of treatment.