Dark truths to lightening your skin
When it comes to rare diseases, some get more attention than others. One that tends to slip under the radar is amyloidosis, a disease where the body produces a protein called amyloid, which builds up in the organs and stops them from functioning normally.
There is no cure for this rare condition, but the right treatment can help to ease symptoms and prevent complications.
Curious? Check out this gallery to find out more about amyloidosis.
Amyloidosis is a rare but potentially serious disease in which a protein called amyloid builds up in the organs, causing them to malfunction.
Several organs can be affected by amyloidosis, including the heart, kidneys, liver, spleen, nervous system, and digestive tract.
In some cases, amyloidosis occurs with other diseases, such as rheumatoid arthritis. In these cases, amyloidosis symptoms may improve with treatment for the other disease.
In other cases, amyloidosis occurs on its own. Treatment often includes chemotherapy, as well as other strong drugs that are used to treat cancer.
The symptoms of amyloidosis do not usually present until the later stages of the disease, and they tend to vary depending on which organs are affected.
Symptoms can include severe fatigue, shortness of breath, swelling of the ankles and legs, and numbness, pain, or tingling in the hands or feet.
Further symptoms include diarrhea or constipation, an enlarged tongue that can look rippled around the edges, and skin changes such as easy bruising.
It is important to seek medical attention if you experience, or someone you know regularly experiences, any of the symptoms associated with amyloidosis.
There are several different types of amyloidosis. Some of the variations are hereditary, while others may be caused by an inflammatory disease.
The most common type of amyloidosis in developed countries is AL amyloidosis. Also referred to as ‘primary amyloidosis,’ this variation usually affects the heart, kidneys, liver, and nerves.
Next up is AA amyloidosis, also known as ‘secondary amyloidosis.’ This is usually triggered by an inflammatory disease and primarily affects the kidneys, liver, and spleen.
Hereditary amyloidosis, or familial amyloidosis, is an inherited disorder that occurs when a protein made by the liver is abnormal. It mainly affects the nerves, heart, and kidneys.
Wild-type amyloidosis occurs when the same liver protein is normal, but it still produces amyloid for unknown reasons. It is most common in men over 70 and tends to affect the heart.
Finally, we have localized amyloidosis, which affects a single site only. Common parts of the body affected by localized amyloidosis include the bladder, skin, throat, and lungs.
With localized amyloidosis, it is very important to get the diagnosis right so that general treatments which affect the whole body can be avoided.
In terms of risk factors, age and sex are both important. Amyloidosis is normally diagnosed in people between the ages of 60 and 70, and it is more common in men.
Race may also play a role: people of African descent appear to be more likely to carry the genetic mutation associated with a type of amyloidosis that harms the heart.
In some cases, kidney dialysis can put people at a higher risk of amyloidosis, since it can cause proteins to build up in the blood and eventually be deposited in tissue.
However, amyloidosis caused by complications with kidney dialysis is less common nowadays thanks to modern dialysis techniques.
Amyloidosis can be difficult to diagnose because some of the symptoms are very general and can mimic the symptoms of other, more common diseases.
That said, early diagnosis is important, since it can help to prevent further organ damage. Precise diagnosis is also important since treatment varies depending on the condition.
If your doctor or healthcare professional suspects amyloidosis, they may order blood and/or urine tests to check for an abnormal protein that indicates the disease.
They may also order a tissue sample, otherwise known as a biopsy, to check for signs of amyloidosis.
Imaging tests, such as echocardiograms, MRIs, and nuclear imaging tests can also be used to check the organs for signs of amyloidosis.
There is no cure for amyloidosis. Instead, treatment focuses on managing the symptoms and limiting any further production of the amyloid protein.
In the case of AL amyloidosis, chemotherapy is often used to stop the growth of the abnormal cells that produce the protein that produces amyloid.
In cases of amyloidosis that affects the heart, patients may need to take blood thinners to reduce the risk of throwing a blood clot.
They may also need to take medications to control heart rate, as well as drugs that increase urination, so as to reduce the strain on the heart and kidneys.
There are also targeted therapies for specific types of amyloidosis, as well as surgical procedures that may be ordered as part of treatment.
Living with this rare disease can be difficult, but early diagnosis and the right treatment can help to manage symptoms and prevent complications.
Sources: (Mayo Clinic) (NHS)
See also: The rare inflammatory condition that is sarcoidosis
Amyloidosis: A closer look at this rare disease
Understanding this disease and its impact
HEALTH Rare disease
When it comes to rare diseases, some get more attention than others. One that tends to slip under the radar is amyloidosis, a disease where the body produces a protein called amyloid, which builds up in the organs and stops them from functioning normally.
There is no cure for this rare condition, but the right treatment can help to ease symptoms and prevent complications.
Curious? Check out this gallery to find out more about amyloidosis.