Amyloidosis is a condition that results from excessive buildup of amyloid protein in multiple body organs such as the heart, kidneys, liver, soft tissues, peripheral/autonomic nervous system, and gastrointestinal tract, making them not work normally. There are four common types of Amyloidosis, each with characteristics that distinguish them. They include AL (Primary) Amyloidosis, AA (Secondary) Amyloidosis, Familial (Hereditary) ATTR Amyloidosis, and Wild-Type (Senile) ATTR Amyloidosis. AL (Primary) Amyloidosis occurs when the body's immune system reacts to amyloid proteins, producing antibodies known as light chains that attack the patient's organs. AA (Secondary) Amyloidosis results when the body produces antibodies against a different type of amyloid, which may be similar to or different from the primary causative protein. Familial (Hereditary) ATTR Amyloidosis occurs when a person carries an abnormal gene that causes the body to produce more amyloid than normal. This is most often seen in older people with an inherited condition called familial Mediterranean fever. The Wild-Type (Senile) ATTR Amyloidosis occurs when the body produces its own type of amyloid, which is common in older people.
Signs and Symptoms of Amyloidosis
The symptoms of Amyloidosis depend on the type and the organ affected. Some symptoms include:
- Severe fatigue and weakness - Amyloidosis is often accompanied by weakness and fatigue due to the loss of muscle. The muscles become weak because they do not have the energy needed to perform their proper function. This can result in other conditions, such as bedsores and mobility problems. Fatigue can be accompanied by other symptoms (e.g., tiredness, weakness, lack of energy, feeling worn out).
- Shortness of breath - Shortness of breath develops after the weakness. If a patient has this symptom, the condition is called restrictive lung disease. The muscle deterioration in the lung causes a restriction to the expansion of the lungs, making it difficult for them to be filled with air properly.
- Swelling of the ankles and legs - As Amyloidosis leads to the breakdown of the muscles and organs, swelling is common. This is called non-pitting edema because it does not affect the skin surfaces but instead causes edema under the skin.
- An enlarged tongue - In some cases, the tongue becomes swollen and enlarged. This is caused by several factors, among which is the breakdown of skeletal muscle tissue in the tongue, which leads to its enlargement (called myositis).
- Skin discoloration - If amyloid deposits in the kidneys and liver, the patient may develop jaundice. This is caused by the bile getting blocked. The skin may then generate a yellowish tint or discoloration.
Causes of Amyloidosis
The leading cause of Amyloidosis is the abnormal buildup of amyloid proteins in certain organs. Other causes include:
- Chronic inflammatory diseases - Chronic inflammatory diseases such as rheumatoid arthritis or inflammatory bowel disease cause a person to have more amyloid deposits than normal. These diseases are a leading cause of this condition due to the close association between amyloid deposition in the tissue and inflammation.
- Inheritance - Genetics play an important role in causing Amyloidosis, where some people are predisposed to this condition due to a specific gene mutation.
Other risk factors include the following:
- Age - A person is more likely to develop Amyloidosis if they are over the age of 60.
- Race - Different races are more likely to develop amyloidosis.
- Medications - There are a number of medications that increase the risk of Amyloidosis. These medications can cause amyloid proteins to build up in the body's organs, resulting in damage to their functions and causing a patient to suffer from Amyloidosis.
Treatment of Amyloidosis
If a person is diagnosed with this condition, there are options for treatment. They include:
- Medications - There are anti-inflammatory drugs available that help reduce the amyloid proteins from building up. However, this is not a permanent treatment since it does not address the underlying genetic predisposition for Amyloidosis.
- Surgery - If the primary cause of Amyloidosis is related to inflammatory disease, surgery may be considered to remove the inflamed tissue. This surgery can eliminate deposits of amyloids and relieve some of the symptoms depending on the location of the deposits (e.g., kidney surgery may relieve kidney failure symptoms).
- Organ Transplantation - In some cases, organ transplantation is the best option for patients if the Amyloidosis is severe and life-threatening. This operation replaces the damaged organs with new ones that are free of amyloid deposits.
Amyloidosis is a rare disease, meaning it takes a lot of time to diagnose the condition and determine the best treatment options. By regularly visiting the healthcare provider, you can help detect and manage this condition at an early stage.