Amyloidosis is a condition when an abnormal protein molecule called amyloid build ups in the tissues and organs. This condition affects their shape and how they work which can eventually damage organs and cause life-threatening organ failure. It is a rare disorder and can cause a serious health problem. The organs that amyloidosis can affect includes –heart, kidneys, intestines, joints, liver, nerves, skin and soft tissues. In some instances, amyloid collects all through the body, which is called systemic or body-wide amyloidosis.
Most forms of amyloidosis are not curable. However, symptoms can be managed well with treatment.
Generally, early stages of amyloidosis do not show any symptoms, however, when the condition become severe symptoms aggravate depending upon the organs that are affected.
If the heart is affected, the patient may experience:
Shortness of breath
Irregular heart rate
If kidneys are affected, the patient may develop swelling in the legs due to edema or foamy urine due to the presence of excess protein.
If the liver is affected the patient may experience pain and swelling in the upper part of the abdomen.
If the gastrointestinal tract is affected, the patient may experience:
Loss of appetite
If nerves are affected, the patient may experience:
Numbness and tingling sensation in the lower and upper extremities
Dizziness while standing up
Inability to feel cold or heat sensation
General symptoms include:
Bruising around your eyes or on your skin
Carpal tunnel syndrome, or numbness and tingling in your hands and thumb
If you experience any of these symptoms for more than two days, then seek immediate medical help.
Causes of Amyloidosis
The bone marrow normally makes blood cells, which the body uses to carry oxygen to tissues, combat infections and support with proper blood clotting process. In one type of amyloidosis, white blood cells in the bone marrow produce an abnormal protein called amyloid, which folds and forms masses and makes it harder for the system to break down. Amyloidosis is caused due to accumulation of amyloid in the organs and how the amyloid build-up depends on the type of condition a person may have.
Types Of Amyloidosis
Light Chain (AL) Amyloidosis:
Light chain amyloidosis is also called primary amyloidosis is the most common type where abnormal amyloid proteins called light chains build up in organs like heart, kidneys, liver and skin.
Autoimmune (AA) Amyloidosis:
This type of amyloidosis occurs after an infection like tuberculosis or any disease that causes inflammation such as rheumatoid arthritis or inflammatory bowel disease. Sometimes AA can also affect kidneys, intestines, liver or heart and this type is also called secondary amyloidosis.
This type of amyloidosis usually affects people who are on dialysis for a long duration of time, where amyloid deposits in the joints and tendons causing pain and stiffness.
This is a rare type caused due to mutation in a gene that runs in families. It can affect the nerves, heart, liver and kidneys.
This type generally affects the heart in elderly men.
This health disorder can possibly damage any organ in which amyloid builds up:
Amyloidosis interferes with the heart’s electrical system and makes it tough for the heart to function and beat properly. It causes stiffness in the heart muscles and weakening of the pumping action that leads to shortness of breath and low blood pressure. In the long run, it may even lead to heart failure.
When abnormal protein molecule starts to accumulate in the kidneys it may injure filters inside the kidneys making it hard for the excretory system to eliminate waste from the blood. In the long run, kidneys will become overworked and may develop kidney failure.
When amyloid builds up in nerves you may feel numbness and tingling sensation in your fingers and toes. Sometimes it may also affect other nerves that control bowel function or blood pressure.
The doctor will carefully evaluate all the symptoms shown by the patient and assess the complete medical history as symptoms may be similar to other conditions and misdiagnosis is possible. The physician may suggest performing the following blood works such as blood and urine tests to assess amyloid protein levels. Biopsy or bone marrow aspiration is done where a sample of tissue from the liver, nerves, kidneys, heart and other organs is collected to figure out the nature of the amyloid deposit. Once amyloid is confirmed, the physician may further do immunochemical staining and protein electrophoresis to determine the type of amyloid.
This condition is not curable, however, treatment aims to reduce amyloid protein production and mitigate symptoms. Generally, medications are prescribed to manage amyloidosis symptoms which includes:
Drugs to manage diarrhoea, nausea and vomiting
Diuretics to lessen fluid accumulation
Blood thinners to avert blood clots
Medication to control heart rate
AL amyloidosis is treated with chemotherapy, where this procedure aids to destroy abnormal blood cells that produce amyloid protein. After chemotherapy, stem cell or bone marrow transplant helps to replace damaged bone marrow cells.
AA amyloidosis is treated after evaluating cause, bacterial infections are treated with antibiotics, while medicines are given to settle down inflammation.
Dialysis-related amyloidosis is treated by changing type of dialysis and another option is to have a kidney transplant
In a patient with hereditary amyloidosis, they may need a liver transplant as an abnormal protein that causes this type is made in the liver.