When an abnormal protein called amyloid builds up in the organs and tissues, it causes amyloidosis. The build-up impacts the organ’s shape and function. Some organs typically affected by this include the spleen, liver, kidneys, heart, digestive tract, and nervous system. It is a rare but severe health disorder and can result in life-threatening organ failure. So, to ensure timely care is taken, let’s take a look at the symptoms, causes, and diagnosis.

Symptoms of amyloidosis

While in the early phase, amyloidosis might not cause any symptoms. However, as it becomes graver, there will be evident signs. The kind of symptoms experienced depends on the type of amyloidosis and the organ affected. Also, if you experience one or more of the below-listed symptoms, you must visit a doctor.

So, if the heart is affected, the symptoms experienced will be:

• Chest pain
• Low blood pressure
• Irregular heart rate
• Breathlessness

If the kidney is affected, the symptoms experienced will be:

• Swelling in legs because of fluid build-up
• Foamy urine

If the liver is affected, symptoms experienced will be:

• Swelling in the upper part of the abdomen
• Pain in abdomen

If the gastrointestinal tract is affected, symptoms experienced will be:

• Constipation
• Nausea
• Appetite loss
• Diarrhea
• Weight loss
• Feeling of fullness immediately after eating

If the nerves are affected, symptoms experienced will be:

• Dizziness while standing up
• Numbness, pain, and tingling sensation in the lower legs, feet, and hands
• Diarrhea
• Nausea
• Inability to feel heat or cold

Other general symptoms include:

• Pain in joints
• Swollen tongue
• Weakness
• Fatigue
• Carpal tunnel syndrome
• Bruising around the eyes or on the skin

Causes of amyloidosis

Unfortunately, there is not enough clarity on the primary cause of amyloidosis. But genes have a substantial role to play. Often amyloidosis is associated with excessive and abnormal protein production, resulting in abnormal protein build-up in some organs. The areas or the organs affected depend on the kind of amyloidosis you have. Consequently, the organs fail to work as well as they should.

Risk factors

Some risk factors aggravate your susceptibility to developing the disease. They include:

• Age
  Typically amyloidosis diagnosis is prevalent in people between 60 to 70, but the disease onset may start early.

• Sex
  Men are more susceptible to developing amyloidosis.

• Inflammatory or infectious disease
  Chronic inflammatory or infectious diseases might also heighten your risk of developing amyloidosis.

• Familial link
  If your close relative has been diagnosed with amyloidosis, your susceptibility to developing it is higher.

• Race
  People of African descent have a greater risk of developing a genetic mutation related to amyloidosis that can cause issues with the heart.

• Kidney dialysis
  Unfortunately, dialysis will not eliminate the large proteins from the blood. In addition, dialysis causes abnormal protein build-up in the blood that eventually deposits in the tissue. Of course, with modern dialysis techniques, the risk of the condition has declined but has not been eliminated.

Diagnosis of amyloidosis

Several tests help with amyloidosis diagnosis. A biopsy is the best way to diagnose it. Some biopsies that the doctor may suggest are:

Heart biopsy
A catheter is guided into the heart via a vein in the neck to remove some heart muscle pieces

Kidney biopsy
A needle is inserted into the kidney with ultrasound to fetch some tissues

Bone marrow biopsy
Extracts a small section of bone marrow from the bone

Fat pad biopsy
Fetch a piece of the fat tissue from the abdomen

Further, beyond biopsy, you may need other tests to check the working of the organs. These include:

• Cardiac nuclear scan or MRI to check if the heart is affected
• Heart ultrasound
• Electrocardiogram
• A 24-hour urine sample collection to assess the working of the kidneys
• Blood samples to analyze the liver, heart, kidney function, and the degree of light chains in blood

Treatment of amyloidosis

Unfortunately, there is no available cure for amyloidosis. However, it is a treatable condition. The treatment objective is to reduce disease progression and symptoms and improve the quality of life. Treatment selection depends on the amyloidosis type and symptoms. Some therapies that help lower amyloid protein development are:

Chemotherapy

Medicines are employed to combat abnormal blood cells forming amyloid

Stem cell transplant

Usually, stem cell transplantation happens after chemotherapy to develop a healthy bone marrow.

Controlling underlying diseases

Some inflammatory diseases cause amyloids build-up. Hence, to treat amyloidosis, underlying conditions are managed. It results in fewer symptoms.

Supportive treatment

Some dietary and lifestyle changes can also help manage the disease better. Supportive treatments involve the use of treatment drugs and therapies, such as:

• Dialysis for kidney treatment
• Treatment drugs to control heart failure and blood pressure
• Nutritional support and guidance to overcome digestive issues

As stated above, amyloidosis can be life-threatening. Hence, do not delay your doctor’s visit if you experience any of the symptoms listed above.