Pediatric amyloidosis

What is pediatric amyloidosis?

Amyloidosis is a rare condition that occurs when the protein amyloid builds up in the heart, kidneys, liver, or other organs or tissues. Normally, amyloid is produced in the bone marrow and deposited into other tissues and organs. When too much amyloid builds up, it causes problems with the way the organs function. Severe amyloidosis can cause organ failure.

What are the different types of pediatric amyloidosis?

• AL amyloidosis (immunoglobulin light chain amyloidosis) is the most common form of the condition and was previously called primary amyloidosis. AL amyloidosis happens when the bone marrow produces abnormal antibodies that cannot be broken down by your child’s body and therefore, interfere with normal function. This most often affects the heart, kidneys, skin, nerves and liver.

• AA amyloidosis (secondary amyloidosis), previously known as secondary amyloidosis, AA amyloidosis usually affects the kidneys and can also affect the digestive tract, liver or heart. Children who have chronic infections or inflammatory diseases are at risk for AA amyloidosis.

• Hereditary amyloidosis (familial amyloidosis), also called familial amyloidosis, this type of amyloidosis happens when a child has an inherited gene defect. Hereditary amyloidosis most often affects the heart, kidneys, liver or nervous system.

• Dialysis-related amyloidosis is associated with receiving long-term dialysis (process of removing waste and extra fluid from the body). As a result of dialysis, some proteins in the blood may be deposited in joints and tendons, causing amyloidosis.

What are the signs and symptoms of pediatric amyloidosis?

• Bruising easily

• Carpal tunnel syndrome (CTS)

• Constipation

• Diarrhea

• Difficulty swallowing

• Edema (swelling in the ankles, legs and face)

• Enlarged tongue

• Fatigue (extreme tiredness) and weakness

• Hoarse voice

• Irregular heart rhythm 

• Joint pain

• Kidney problems

• Numbness in the hands and feet

• Pins and needles sensation

• Rash (small red or purple dots)

• Shortness of breath

• Unexplained weight gain or loss

• Weak hand grip

• Wrist pain

What are the causes of pediatric amyloidosis?

In general, amyloidosis is caused by the buildup of an abnormal protein called amyloid. The specific cause of the condition can vary based on the type of amyloidosis your child has.