Rare diseases often aren’t as recognizable and understood by people as others. It makes sense. Common diseases are more likely, and therefore, knowing their symptoms means it’s more likely to get recognized. However, many rare diseases need early diagnosis to be made, in order for treatment to begin early. That’s why knowing more about a rare disease like amyloidosis can only be of benefit.
This rare disease forms when the body’s organs start building up amyloid. Amyloid is what’s known as an abnormal protein. It comes from a person’s marrow, moves throughout the body and then is deposited into the one the internal organs or other services within the body like the digestive tract or nervous system. Severe cases are dangerous and life threatening.
Types of Amyloidosis
As mentioned, amyloidosis is caused by the buildup of amyloids into the various organs and tissues located throughout the body. There are actually four different types of amyloidosis which can affect the body. These include:
- AL Amyloidosis - This is the most common form of amyloidosis and tends to affect organs. Specifically it will often target the kidneys, liver and heart. It can also affect a person’s nerves and their skin. In this case, the bone marrow is producing amyloids that are unable to be broken down.
- AA Amyloidosis - This type of amyloidosis primarily focuses on the kidneys. This occurs when someone is dealing with other diseases. Specifically it occurs when people are suffering from a chronic inflammatory problem like rheumatoid arthritis. While usually in the kidney, it can also affect people in their heart, liver or digestive tract.
- Hereditary Amyloidosis - This type is also called familial amyloidosis and is caused by inherited gene abnormalities. Which type of amyloid gene abnormality occurs can determine many different factors of the disease.
- Dialysis Amyloidosis - This type of amyloidosis is unsurprisingly linked to people who are on long term dialysis. The amyloids end up in the joints and tendons. People feel stiffness and pain, with fluid often forming around the joints.
Symptoms of Amyloidosis
Unfortunately, symptoms tend to be gentle in the early stages of amyloidosis. They become more pronounced as the condition becomes more advanced. In addition, the symptoms are very wide ranging. This is due to amyloidosis potentially affecting many different parts of the body. Therefore the symptoms involved can be varied, or only a few can show up. Essentially, any of these symptoms should lead to seeing a doctor and allowing them to try to determine if amyloidosis may be the cause. The symptoms include:
- Irregular heartbeats
- Large amounts of unintentional weight loss
- Swelling in the legs and ankles
- Feeling a shortness of breath
- A swollen and enlarged tongue
- Feeling severely fatigued or weak
- Feeling numb or pain in the wrist, hands or feet
- Diarrhea or constipation (stool can contain blood)
- Bruising easily or forming purple patches around eyes
- Trouble swallowing
Treating Amyloidosis
Unfortunately there are no cures for amyloidosis. The treatment can work to limit more amyloids from being reduced and can alleviate the trouble caused by the symptoms. The type of amyloidosis makes a big difference. AA amyloidosis treatment for example will work on treating the underlying cause. This usually means medication to reduce the inflammation being caused.
Al amyloidosis has the most options for treatment. Chemotherapy drugs are also effective in treating amyloidosis. The other types of amyloidosis can rely on transplants. Hereditary amyloidosis often needs a liver transplant, while dialysis-related amyloidosis will often need to have a kidney transplant.